ClinVar Miner

List of variants in gene MYOM1 reported as uncertain significance for not provided

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_003803.4(MYOM1):c.461C>T (p.Thr154Met) rs140845661 0.00197
NM_003803.4(MYOM1):c.3539A>G (p.Asp1180Gly) rs188319622 0.00176
NM_003803.4(MYOM1):c.1052G>A (p.Arg351Gln) rs369420540 0.00029
NM_003803.4(MYOM1):c.3548G>A (p.Arg1183Gln) rs147050513 0.00024
NM_003803.4(MYOM1):c.4711C>T (p.Arg1571Cys) rs373419422 0.00020
NM_003803.4(MYOM1):c.2087G>A (p.Arg696His) rs767192545 0.00015
NM_003803.4(MYOM1):c.1051C>T (p.Arg351Trp) rs375848036 0.00005
NM_003803.4(MYOM1):c.2086C>T (p.Arg696Cys) rs757565820 0.00002
NM_003803.4(MYOM1):c.4007A>T (p.Asp1336Val) rs575609095 0.00002
GRCh37/hg19 18p11.31(chr18:3031247-3082647)x3
NM_003803.4(MYOM1):c.113_125dup (p.Ser43fs) rs2144260314
NM_003803.4(MYOM1):c.1358C>A (p.Ser453Ter) rs368424215
NM_003803.4(MYOM1):c.2103C>G (p.Asp701Glu)
NM_003803.4(MYOM1):c.4211A>G (p.His1404Arg)
NM_003803.4(MYOM1):c.5020G>A (p.Ala1674Thr)
NM_003803.4(MYOM1):c.5041G>C (p.Gly1681Arg)
NM_003803.4(MYOM1):c.814C>T (p.His272Tyr) rs1555628272
NM_003803.4(MYOM1):c.979ATT[1] (p.Ile328del) rs765548922

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