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: 19
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HGVS dbSNP
NM_001145809.2(MYH14):c.1049G>A (p.Arg350Gln)
NM_001145809.2(MYH14):c.1462G>T (p.Ala488Ser) rs887619644
NM_001145809.2(MYH14):c.1979G>A (p.Gly660Asp) rs1568504395
NM_001145809.2(MYH14):c.2347C>T (p.Arg783Trp)
NM_001145809.2(MYH14):c.2432C>T (p.Ala811Val) rs201337011
NM_001145809.2(MYH14):c.2599C>T (p.Arg867Cys)
NM_001145809.2(MYH14):c.2900C>T (p.Thr967Met)
NM_001145809.2(MYH14):c.3850C>T (p.Arg1284Trp) rs201515738
NM_001145809.2(MYH14):c.4582G>A (p.Glu1528Lys)
NM_001145809.2(MYH14):c.4693C>T (p.Arg1565Trp) rs769989306
NM_001145809.2(MYH14):c.4761G>A (p.Glu1587=)
NM_001145809.2(MYH14):c.5041G>A (p.Glu1681Lys) rs556548077
NM_001145809.2(MYH14):c.5281C>T (p.Arg1761Trp)
NM_001145809.2(MYH14):c.5469+13del
NM_001145809.2(MYH14):c.5986C>T (p.Arg1996Cys) rs749591626
NM_001145809.2(MYH14):c.6097G>C (p.Ala2033Pro)
NM_001145809.2(MYH14):c.6101A>C (p.His2034Pro)
NM_001145809.2(MYH14):c.6108_6111del (p.Gln2036fs)
NM_001145809.2(MYH14):c.91C>T (p.Pro31Ser)

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