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

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Number of Variants: 12

Variant Region ID	Type	Number of Variant Calls	Study ID	Organism	Clinical Assertion	Location	Genes in region
nsv6636064	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 46,774,245-46,776,035 , GRCh38 chr1: 46,308,573-46,310,363	UQCRH
nsv3877365	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 47,851-249,228,449 , GRCh38.p12 chr1: 47,851-248,934,250	UQCRH, 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	UQCRH, 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	UQCRH, RNU1-153P, 4887 more genes
nsv6313688	copy number variation	1	nstd102	human	Pathogenic	GRCh37 chr1: 33,285,582-47,891,811 , GRCh38.p12 chr1: 32,819,981-47,426,139	UQCRH, LOC107984940, 407 more genes
nsv3888489	copy number variation	1	nstd102	human	Likely pathogenic	GRCh37 chr1: 45,303,358-52,157,856 , GRCh38.p12 chr1: 44,837,686-51,692,184	UQCRH, CDKN2C, 141 more genes
nsv4436181	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr1: 10,333,430-103,467,088 , GRCh38.p12 chr1: 10,273,372-103,001,532	UQCRH, LINC01776, 1853 more genes
nsv3889597	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr1: 46,372,688-47,188,150 , GRCh38.p12 chr1: 45,907,016-46,722,478	UQCRH, NENFP1, 27 more genes
nsv3882928	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr1: 46,541,307-47,088,882 , GRCh38.p12 chr1: 46,075,635-46,623,210	UQCRH, PIK3R3, 19 more genes
nsv3884951	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr1: 46,747,177-47,280,720 , GRCh38.p12 chr1: 46,281,505-46,815,048	UQCRH, ATPAF1, 19 more genes
nsv4674638	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr1: 46,768,408-47,174,149 , GRCh38.p12 chr1: 46,302,736-46,708,477	UQCRH, MKNK1-AS1, 17 more genes
nsv4674480	copy number variation	1	nstd102	human	Uncertain significance	GRCh37 chr1: 46,501,759-46,898,503 , GRCh38.p12 chr1: 46,036,087-46,432,831	UQCRH, LRRC41, 12 more genes

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uqcrh[All Fields] AND 1[has_clinical] (13)
dbVar
Dhh desert hedgehog [Mus musculus]
Dhh desert hedgehog [Mus musculus]
Gene ID:13363

Gene
desert hedgehog protein preproprotein [Homo sapiens]
desert hedgehog protein preproprotein [Homo sapiens]
gi|19482158|ref|NP_066382.1|

Protein

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