topaz1[All Fields] AND 1[has_clinical] - dbVar - NCBI

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Number of Variants: 6

Variant Region ID	Type	Number of Variant Calls	Study ID	Organism	Clinical Assertion	Location	Genes in region
nsv3881275	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr3: 41,104,508-44,636,698 , GRCh38.p12 chr3: 41,063,017-44,595,206	TOPAZ1, LOC107986077, 69 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	TOPAZ1, 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	TOPAZ1, 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	TOPAZ1, RPL23AP49, 2875 more genes
nsv3885169	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr3: 16,923,595-45,249,923 , GRCh38.p12 chr3: 16,884,818-45,208,431	TOPAZ1, RNU6-243P, 382 more genes
nsv3883164	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr3: 37,028,313-49,929,220 , GRCh38.p12 chr3: 36,986,822-49,891,787	TOPAZ1, ACAA1, 344 more genes

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topaz1[All Fields] AND 1[has_clinical] (7)
dbVar
PREDICTED: Xenopus laevis calcyphosine L homeolog (caps.L), mRNA
PREDICTED: Xenopus laevis calcyphosine L homeolog (caps.L), mRNA
gi|2038129036|ref|XM_018255144.2|

Nucleotide

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