ClinVar Miner

List of variants in gene MYO1A reported as likely benign by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_005379.4(MYO1A):c.2390C>T (p.Ser797Phe) rs113470661 0.00506
NM_005379.4(MYO1A):c.2341A>G (p.Lys781Glu) rs144384395 0.00103
NM_005379.4(MYO1A):c.659G>A (p.Arg220Gln) rs114674819 0.00068
NM_005379.4(MYO1A):c.2302C>T (p.Arg768Trp) rs143613424 0.00052
NM_005379.4(MYO1A):c.1340G>A (p.Arg447Gln) rs138679694 0.00046
NM_005379.4(MYO1A):c.2228T>C (p.Ile743Thr) rs145027196 0.00043
NM_005379.4(MYO1A):c.658C>T (p.Arg220Trp) rs144009842 0.00042
NM_005379.4(MYO1A):c.1770G>A (p.Lys590=) rs200927840 0.00033
NM_005379.4(MYO1A):c.2684T>C (p.Met895Thr) rs148582008 0.00016
NM_005379.4(MYO1A):c.48G>T (p.Leu16=) rs201000642 0.00010
NM_005379.4(MYO1A):c.2082C>G (p.Arg694=) rs189900453 0.00009
NM_005379.4(MYO1A):c.771G>A (p.Ser257=) rs201705384 0.00006
NM_005379.4(MYO1A):c.1333-8C>T rs727505302 0.00004
NM_005379.4(MYO1A):c.1928G>A (p.Arg643Gln) rs200450661 0.00004
NM_005379.4(MYO1A):c.2316C>T (p.Ala772=) rs147832651 0.00004
NM_005379.4(MYO1A):c.2162G>A (p.Arg721Gln) rs138855953 0.00003
NM_005379.4(MYO1A):c.2141G>A (p.Arg714His) rs369452147 0.00002
NM_005379.4(MYO1A):c.2499G>T (p.Arg833=) rs727504563 0.00002
NM_005379.4(MYO1A):c.1270-10C>T rs727503322 0.00001
NM_005379.4(MYO1A):c.1882C>G (p.Arg628Gly) rs151187460
NM_005379.4(MYO1A):c.2238C>G (p.Ser746=) rs140932379
NM_005379.4(MYO1A):c.2238C>T (p.Ser746=) rs140932379
NM_005379.4(MYO1A):c.3128A>G (p.Gln1043Arg) rs370617353

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