prpf3[All Fields] AND 1[has_clinical] - dbVar - NCBI

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Items: 13

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Number of Variants: 13

Variant Region ID	Type	Number of Variant Calls	Study ID	Organism	Clinical Assertion	Location	Genes in region
nsv3912840	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr1: 144,764,751-247,199,719 , GRCh37.p13 chr1: 146,053,394-249,233,096 , GRCh38.p12 chr1: 120,836,007-206,268,643	PRPF3, CRB1, 1608 more genes
nsv3877365	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 47,851-249,228,449 , GRCh38.p12 chr1: 47,851-248,934,250	PRPF3, MARK1, 4930 more genes
nsv3885206	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 82,154-249,218,992 , GRCh38.p12 chr1: 82,154-248,924,793	PRPF3, SNAP47, 4927 more genes
nsv3884414	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chr1: 849,467-249,224,684 , GRCh38.p12 chr1: 914,087-248,930,485	PRPF3, RNU1-153P, 4887 more genes
nsv3918947	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr1: 144,475,856-247,199,719 , GRCh37.p13 chr1: 145,764,499-249,233,096 , GRCh38.p12 chr1: 120,836,007-206,268,643	PRPF3, LOC101060227, 1608 more genes
nsv3900459	copy number variation	1	nstd102	human	Pathogenic	GRCh38 chr1: 149,854,269-180,267,197 , NCBI36 chr1: 148,092,455-178,502,955 , GRCh37 chr1: 149,825,831-180,236,332	PRPF3, HORMAD1, 923 more genes
nsv3895295	copy number variation	1	nstd102	human	Likely benign	NCBI36 chr1: 148,453,763-148,804,107 , GRCh38 chr1: 150,214,843-150,565,007 , GRCh37 chr1: 150,187,139-150,537,483	PRPF3, MRPS21, 18 more genes
nsv3891069	copy number variation	1	nstd102	human	Uncertain significance	GRCh38 chr1: 150,034,379-150,414,215 , GRCh37 chr1: 150,006,344-150,311,095 , NCBI36 chr1: 148,272,968-148,653,315	PRPF3, C1orf54, 14 more genes
nsv5381285	copy number variation	2	nstd102	human	Uncertain significance	GRCh37 chr1: 130,980,840-248,900,000 , GRCh38.p12 chr1: 120,324,463-248,736,699	PRPF3, DCST1, 2428 more genes
nsv6310678	copy number variation	4	nstd102	human	Uncertain significance	GRCh37 chr1: 149,895,434-156,851,434 , GRCh38.p12 chr1: 149,923,542-156,881,642	PRPF3, KHDC4, 352 more genes
nsv6310679	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr1: 150,044,213-150,477,474 , GRCh38.p12 chr1: 150,072,146-150,504,998	PRPF3, TARS2, 15 more genes
nsv7095319	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr1: 150,039,915-150,464,158 , GRCh38.p12 chr1: 150,067,858-150,491,682	PRPF3, MIR6878, 15 more genes
nsv4453239	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr1: 150,270,870-150,527,943 , GRCh38.p12 chr1: 150,298,445-150,555,467	PRPF3, MIR6878, 8 more genes

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