ClinVar Miner

List of variants in gene MYO3A studied for autosomal dominant nonsyndromic hearing loss

Included ClinVar conditions (118):
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Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_017433.4(MYO3A):c.-215A>G rs7073084 0.08165
NM_017433.4(MYO3A):c.-312G>A rs184554148 0.00035
NM_017433.5(MYO3A):c.1463G>A (p.Gly488Glu) rs145970949 0.00022
NM_017433.5(MYO3A):c.2089T>G (p.Leu697Val) rs753357658 0.00003
NM_017433.5(MYO3A):c.2999G>A (p.Arg1000Gln) rs755548787 0.00003
NM_017433.4(MYO3A):c.-302G>C rs886046915
NM_017433.5(MYO3A):c.*399del rs558895234
NM_017433.5(MYO3A):c.*399dup rs558895234
NM_017433.5(MYO3A):c.-104-14del rs886046916
NM_017433.5(MYO3A):c.1053+11_1053+12inv
NM_017433.5(MYO3A):c.1286_1288del (p.Ile429_Ser430delinsThr) rs886046920
NM_017433.5(MYO3A):c.2090T>G (p.Leu697Trp) rs1564573788
NM_017433.5(MYO3A):c.2682G>A (p.Met894Ile)
NM_017433.5(MYO3A):c.680A>G (p.Asp227Gly) rs1842309816
NM_017433.5(MYO3A):c.716T>C (p.Leu239Pro)

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