ClinVar Miner

List of variants in gene MYOM1 reported as likely benign by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_003803.4(MYOM1):c.739G>A (p.Glu247Lys) rs139422575 0.00435
NM_003803.4(MYOM1):c.2062A>T (p.Thr688Ser) rs188677538 0.00276
NM_003803.4(MYOM1):c.1901-14T>C rs200115559 0.00262
NM_003803.4(MYOM1):c.3539A>G (p.Asp1180Gly) rs188319622 0.00176
NM_003803.4(MYOM1):c.3572A>G (p.Asn1191Ser) rs200480164 0.00166
NM_003803.4(MYOM1):c.4776C>G (p.Leu1592=) rs1143658 0.00149
NM_003803.4(MYOM1):c.117C>T (p.Tyr39=) rs375113650 0.00139
NM_003803.4(MYOM1):c.1952G>A (p.Arg651Gln) rs184721031 0.00116
NM_003803.4(MYOM1):c.1978C>G (p.Pro660Ala) rs201104206 0.00100
NM_003803.4(MYOM1):c.5019C>T (p.Ala1673=) rs199980922 0.00076
NM_003803.4(MYOM1):c.5001G>A (p.Glu1667=) rs376007739 0.00064
NM_003803.4(MYOM1):c.2064G>A (p.Thr688=) rs374462999 0.00054
NM_003803.4(MYOM1):c.2656A>G (p.Ser886Gly) rs199900004 0.00051
NM_003803.4(MYOM1):c.2385-13G>A rs116126674 0.00042
NM_003803.4(MYOM1):c.1627G>A (p.Gly543Arg) rs370063864 0.00015
NM_003803.4(MYOM1):c.4648+7A>G rs555598943 0.00014
NM_003803.4(MYOM1):c.2350G>A (p.Glu784Lys) rs368949465 0.00006
NM_003803.4(MYOM1):c.4672T>C (p.Phe1558Leu) rs187108957 0.00004
NM_003803.4(MYOM1):c.2598G>A (p.Pro866=) rs778413922 0.00003
NM_003803.4(MYOM1):c.3190C>T (p.His1064Tyr) rs755409090 0.00002
NM_003803.4(MYOM1):c.3308G>A (p.Arg1103Gln) rs186972208 0.00002
NM_003803.4(MYOM1):c.93G>A (p.Arg31=) rs876657536 0.00002
NM_003803.4(MYOM1):c.120C>G (p.Thr40=) rs876657535 0.00001
NM_003803.4(MYOM1):c.297A>G (p.Thr99=) rs369402806 0.00001
NM_003803.4(MYOM1):c.1023-14G>A rs372359086
NM_003803.4(MYOM1):c.1340-14del rs554705715
NM_003803.4(MYOM1):c.1917C>T (p.Gly639=) rs761762328
NM_003803.4(MYOM1):c.2506+15C>G rs1272570164
NM_003803.4(MYOM1):c.2697A>C (p.Val899=) rs771666952
NM_003803.4(MYOM1):c.3683-9C>T rs1060504725
NM_003803.4(MYOM1):c.5045dup (p.Lys1683fs) rs573184538

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