ClinVar Miner

List of variants studied for Autosomal dominant nonsyndromic hearing loss 4A; Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome

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Total variants: 25
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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.3850C>T (p.Arg1284Trp) rs201515738 0.00037
NM_001145809.2(MYH14):c.1244G>A (p.Gly415Glu) rs368472938 0.00014
NM_001145809.2(MYH14):c.1301A>G (p.Tyr434Cys) rs556541366 0.00012
NM_001145809.2(MYH14):c.1067C>T (p.Thr356Met) rs151082668 0.00011
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.4439G>A (p.Arg1480His) rs187782753 0.00004
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.4088G>A (p.Arg1363His) rs727504915 0.00003
NM_001145809.2(MYH14):c.3141C>T (p.Leu1047=) rs886054592 0.00001
NM_001145809.2(MYH14):c.3322C>T (p.Arg1108Cys) rs769702697 0.00001
NM_001145809.2(MYH14):c.3401A>G (p.Gln1134Arg) rs934260773 0.00001
NM_001145809.2(MYH14):c.5875C>T (p.Arg1959Trp) rs758424787 0.00001
NM_001145809.2(MYH14):c.1021G>C (p.Gly341Arg)
NM_001145809.2(MYH14):c.1888G>A (p.Val630Ile)
NM_001145809.2(MYH14):c.2282G>C (p.Gly761Ala)
NM_001145809.2(MYH14):c.2299C>T (p.Arg767Cys) rs28940307
NM_001145809.2(MYH14):c.2525T>C (p.Leu842Pro) rs2034878363
NM_001145809.2(MYH14):c.4306C>T (p.Arg1436Trp) rs762144894
NM_001145809.2(MYH14):c.5384G>A (p.Arg1795His) rs567922009
NM_001145809.2(MYH14):c.5960G>A (p.Arg1987Gln)
NM_001145809.2(MYH14):c.6096_6097del (p.Ala2033fs) rs2036794277

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