nphp3[All Fields] AND 1[has_clinical] - dbVar

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Number of Variants: 20

Variant Region ID	Type	Number of Variant Calls	Study ID	Organism	Clinical Assertion	Location	Genes in region
nsv3885884	copy number variation	1	nstd102	human	Benign	GRCh37 chr3: 132,588,834-132,598,678 , GRCh38.p12 chr3: 132,869,990-132,879,834	NPHP3-AS1
nsv4681268	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr3: 132,400,734-132,403,658 , GRCh38.p12 chr3: 132,681,890-132,684,814	NPHP3, NPHP3-ACAD11
nsv7096441	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr3: 132,410,016-132,411,682 , GRCh38.p12 chr3: 132,691,172-132,692,838	NPHP3, NPHP3-ACAD11
nsv7096535	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr3: 132,387,642-132,389,148 , GRCh38.p12 chr3: 132,668,798-132,670,304	UBA5, NPHP3-ACAD11
nsv6311854	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr3: 132,407,898-132,411,682 , GRCh38.p12 chr3: 132,689,054-132,692,838	NPHP3, NPHP3-ACAD11
nsv6311776	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr3: 132,413,221-132,415,677 , GRCh38.p12 chr3: 132,694,377-132,696,833	NPHP3, NPHP3-ACAD11
nsv6311952	copy number variation	3	nstd102	human	Uncertain significance, Pathogenic	GRCh37 chr3: 132,379,382-132,441,199 , GRCh38.p12 chr3: 132,660,538-132,722,355	NPHP3, UBA5, 3 more genes
nsv7096682	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr3: 132,438,675-132,441,126 , GRCh38.p12 chr3: 132,719,831-132,722,282	NPHP3, NPHP3-AS1, 1 more genes
nsv4682513	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr3: 132,345,535-132,441,199 , GRCh38.p12 chr3: 132,626,691-132,722,355	NPHP3, UBA5, 4 more genes
nsv3920279	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr3: 129,817,243-143,381,624 , GRCh37 chr3: 129,536,086-143,100,466 , NCBI36 chr3: 131,018,776-144,583,156	NPHP3, NPHP3-AS1, 218 more genes
nsv6311770	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr3: 120,365,818-133,465,047 , GRCh38.p12 chr3: 120,646,971-133,746,203	NPHP3, HNRNPA1P23, 278 more genes
nsv3921297	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr3: 133,918,512-145,986,275 , GRCh38 chr3: 132,716,978-144,784,743 , GRCh37 chr3: 132,435,822-144,503,585	NPHP3, BFSP2, 169 more genes
nsv3914757	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr3: 131,018,776-142,626,687 , GRCh38 chr3: 129,817,243-141,425,155 , GRCh37 chr3: 129,536,086-141,143,997	NPHP3, CLSTN2-AS1, 177 more genes
nsv6112714	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr3: 127,927,712-136,889,323 , GRCh38.p12 chr3: 128,208,869-137,170,481	NPHP3, RNU6-789P, 169 more genes
nsv3918871	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr3: 130,401,265-139,005,019 , NCBI36 chr3: 131,602,799-140,206,551 , GRCh37 chr3: 130,120,109-138,723,861	NPHP3, FOXL2, 132 more genes
nsv6311775	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr3: 132,379,382-133,191,429 , GRCh38.p12 chr3: 132,660,538-133,472,585	NPHP3, LOC105374115, 9 more genes
nsv3885606	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr3: 60,174-197,948,027 , GRCh38.p12 chr3: 18,496-198,221,156	NPHP3, RNU4-62P, 2880 more genes
nsv3889228	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chr3: 61,892-197,851,986 , GRCh38.p12 chr3: 20,214-198,125,115	NPHP3, NDUFB4, 2876 more genes
nsv3880617	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr3: 61,495-197,838,262 , GRCh38.p12 chr3: 19,817-198,111,391	NPHP3, RPL23AP49, 2875 more genes
nsv3918981	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr3: 103,145,726-197,837,049 , GRCh38 chr3: 103,426,882-198,110,178 , NCBI36 chr3: 104,628,416-199,321,446	NPHP3, LINC02614, 1469 more genes

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dbVar

Result Filters

Object Type

Organism

Variant Type

Method Type

Clinical Interpretation

Has Clinical Interpretation

Sex of Subject

Origin

Study Type

Subject Phenotype Status

Additional filters

Search results

Items: 1 to 20 of 32

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Number of Variants: 20

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Supplemental Content

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