ClinVar Miner

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

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Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_005379.4(MYO1A):c.2987C>T (p.Thr996Ile) rs17119344 0.08795
NM_005379.4(MYO1A):c.1185T>C (p.Phe395=) rs17546153 0.02982
NM_005379.4(MYO1A):c.1985G>A (p.Gly662Glu) rs33962952 0.02416
NM_005379.4(MYO1A):c.3026A>C (p.Glu1009Ala) rs76394585 0.02062
NM_005379.4(MYO1A):c.1277C>T (p.Pro426Leu) rs4759043 0.01201
NM_005379.4(MYO1A):c.2919C>T (p.Ser973=) rs79857347 0.01159
NM_005379.4(MYO1A):c.1517G>C (p.Cys506Ser) rs12297756 0.00793
NM_005379.4(MYO1A):c.916G>A (p.Val306Met) rs55679042 0.00570
NM_005379.4(MYO1A):c.2390C>T (p.Ser797Phe) rs113470661 0.00506
NM_005379.4(MYO1A):c.49G>C (p.Glu17Gln) rs141658242 0.00339
NM_005379.4(MYO1A):c.2724+7G>A rs55985817 0.00264
NM_005379.4(MYO1A):c.2032A>T (p.Ile678Phe) rs151269703 0.00253
NM_005379.4(MYO1A):c.682C>G (p.Leu228Val) rs137975387 0.00125
NM_005379.4(MYO1A):c.2341A>G (p.Lys781Glu) rs144384395 0.00103
NM_005379.4(MYO1A):c.2406C>T (p.Asp802=) rs150587673 0.00083
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.1667C>T (p.Ser556Phe) rs571906190 0.00024
NM_005379.4(MYO1A):c.-11C>T rs560209125 0.00016
NM_005379.4(MYO1A):c.2684T>C (p.Met895Thr) rs148582008 0.00016
NM_005379.4(MYO1A):c.2804T>C (p.Ile935Thr) rs372760228 0.00014
NM_005379.4(MYO1A):c.881G>A (p.Arg294His) rs368189667 0.00013
NM_005379.4(MYO1A):c.92G>A (p.Arg31His) rs727504447 0.00011
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.2872A>G (p.Ser958Gly) rs184810732 0.00009
NM_005379.4(MYO1A):c.3091A>G (p.Lys1031Glu) rs371613423 0.00008
NM_005379.4(MYO1A):c.1055G>A (p.Arg352His) rs727504566 0.00006
NM_005379.4(MYO1A):c.771G>A (p.Ser257=) rs201705384 0.00006
NM_005379.4(MYO1A):c.2572A>G (p.Lys858Glu) rs142017261 0.00005
NM_005379.4(MYO1A):c.1333-8C>T rs727505302 0.00004
NM_005379.4(MYO1A):c.1678C>G (p.Pro560Ala) rs140586750 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.2708A>G (p.Asn903Ser) rs146373415 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.2920G>A (p.Glu974Lys) rs370708976
NM_005379.4(MYO1A):c.3128A>G (p.Gln1043Arg) rs370617353
NM_005379.4(MYO1A):c.829G>A (p.Val277Met) rs141826192

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