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

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Number of Variants: 9

Variant Region ID	Type	Number of Variant Calls	Study ID	Organism	Clinical Assertion	Location	Genes in region
nsv3904885	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr19: 68,029-59,110,290 , GRCh38.p12 chr19: 68,029-58,598,923	SNRPA, ZNF321P, 2443 more genes
nsv3903203	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr19: 260,912-59,097,160 , GRCh38.p12 chr19: 260,912-58,585,793	SNRPA, BABAM1, 2426 more genes
nsv3903092	copy number variation	2	nstd102	human	Pathogenic	GRCh37 chr19: 260,912-58,956,888 , GRCh38.p12 chr19: 260,912-58,445,521	SNRPA, LENG8, 2408 more genes
nsv3913730	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr19: 11,199,618-49,821,491 , GRCh37 chr19: 11,338,618-45,129,651 , GRCh38 chr19: 11,227,942-44,626,354	SNRPA, BCKDHA, 1102 more genes
nsv6290300	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr19: 19,546,923-41,313,229 , GRCh38.p12 chr19: 19,436,114-40,807,324	SNRPA, ZNF420, 574 more genes
nsv4457372	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr19: 28,271,106-49,213,832 , GRCh38.p12 chr19: 27,780,198-48,710,575	SNRPA, ZNF461, 735 more genes
nsv3912447	copy number variation	1	nstd102	human	Pathogenic	NCBI36 chr19: 42,502,119-47,934,680 , GRCh37 chr19: 37,810,279-43,242,840 , GRCh38 chr19: 37,319,377-42,738,688	SNRPA, MIR8077, 233 more genes
nsv3895066	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr19: 37,582,250-41,630,908 , GRCh38.p12 chr19: 37,091,348-41,125,003	SNRPA, RNU6-140P, 162 more genes
nsv7095480	copy number variation	4	nstd102	human	Uncertain significance	GRCh37 chr19: 39,904,727-42,931,301 , GRCh38.p12 chr19: 39,414,087-42,427,149	SNRPA, CYP2B6, 140 more genes

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