ClinVar Miner

List of variants in gene MYH14 reported as uncertain significance for autosomal dominant distal myopathy

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_001145809.2(MYH14):c.2432C>T (p.Ala811Val) rs201337011 0.00093
NM_001145809.2(MYH14):c.3850C>T (p.Arg1284Trp) rs201515738 0.00037
NM_001145809.2(MYH14):c.3304C>T (p.Arg1102Trp) rs397516629 0.00011
NM_001145809.2(MYH14):c.1049G>A (p.Arg350Gln) rs373908919 0.00010
NM_001145809.2(MYH14):c.3821G>A (p.Arg1274Gln) rs763472009 0.00010
NM_001145809.2(MYH14):c.5469+13del rs760445854 0.00006
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.4693C>T (p.Arg1565Trp) rs769989306 0.00003
NM_001145809.2(MYH14):c.5986C>T (p.Arg1996Cys) rs749591626 0.00003
NM_001145809.2(MYH14):c.1462G>T (p.Ala488Ser) rs887619644 0.00001
NM_001145809.2(MYH14):c.2347C>T (p.Arg783Trp) rs747057989 0.00001
NM_001145809.2(MYH14):c.2900C>T (p.Thr967Met) rs142134135 0.00001
NM_001145809.2(MYH14):c.3141C>T (p.Leu1047=) rs886054592 0.00001
NM_001145809.2(MYH14):c.4761G>A (p.Glu1587=) rs2035993400 0.00001
NM_001145809.2(MYH14):c.5875C>T (p.Arg1959Trp) rs758424787 0.00001
NM_001145809.2(MYH14):c.1979G>A (p.Gly660Asp) rs1568504395
NM_001145809.2(MYH14):c.2272C>G (p.Arg758Gly)
NM_001145809.2(MYH14):c.2599C>T (p.Arg867Cys) rs753356694
NM_001145809.2(MYH14):c.2929G>C (p.Glu977Gln)
NM_001145809.2(MYH14):c.3457G>A (p.Ala1153Thr) rs2123394094
NM_001145809.2(MYH14):c.3820C>T (p.Arg1274Trp)
NM_001145809.2(MYH14):c.4582G>A (p.Glu1528Lys) rs944541812
NM_001145809.2(MYH14):c.5041G>A (p.Glu1681Lys) rs556548077
NM_001145809.2(MYH14):c.5281C>T (p.Arg1761Trp) rs116035034
NM_001145809.2(MYH14):c.5368C>T (p.Arg1790Cys)
NM_001145809.2(MYH14):c.5384G>A (p.Arg1795His) rs567922009
NM_001145809.2(MYH14):c.5848G>A (p.Glu1950Lys) rs774096368
NM_001145809.2(MYH14):c.6034G>A (p.Glu2012Lys)
NM_001145809.2(MYH14):c.6097G>C (p.Ala2033Pro) rs2036794429
NM_001145809.2(MYH14):c.6101A>C (p.His2034Pro) rs1215273187
NM_001145809.2(MYH14):c.6108_6111del (p.Gln2036fs) rs2036795216
NM_001145809.2(MYH14):c.91C>T (p.Pro31Ser) rs590722

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