ClinVar Miner

List of variants studied for autosomal dominant nonsyndromic hearing loss 4A by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001145809.2(MYH14):c.1329+15C>T rs200176028 0.00227
NM_001145809.2(MYH14):c.563-17C>A rs201570558 0.00116
NM_001145809.2(MYH14):c.1301A>G (p.Tyr434Cys) rs556541366 0.00012
NM_001145809.2(MYH14):c.3304C>T (p.Arg1102Trp) rs397516629 0.00011
NM_001145809.2(MYH14):c.3821G>A (p.Arg1274Gln) rs763472009 0.00010
NM_001145809.2(MYH14):c.1631C>T (p.Pro544Leu) rs371300947 0.00003
NM_001145809.2(MYH14):c.3913C>T (p.Arg1305Cys) rs755704452 0.00003
NM_001145809.2(MYH14):c.3141C>T (p.Leu1047=) rs886054592 0.00001
NM_001145809.2(MYH14):c.5875C>T (p.Arg1959Trp) rs758424787 0.00001
NM_001145809.2(MYH14):c.5384G>A (p.Arg1795His) rs567922009

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