ClinVar Miner

List of variants reported as uncertain significance for Steinert myotonic dystrophy syndrome

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_004409.5(DMPK):c.1754T>C (p.Leu585Pro) rs200760629 0.00055
NM_004409.5(DMPK):c.161-131G>T rs192671827 0.00036
NM_004409.5(DMPK):c.1178C>T (p.Pro393Leu) rs200491028 0.00028
NM_004409.5(DMPK):c.1580T>G (p.Leu527Arg) rs149990515 0.00015
NM_004409.5(DMPK):c.628C>T (p.Arg210Cys) rs530588467 0.00012
NM_004409.5(DMPK):c.1324G>A (p.Val442Met) rs780659624 0.00004
NM_004409.5(DMPK):c.1685C>T (p.Pro562Leu) rs1403210034 0.00003
NM_004409.5(DMPK):c.983G>A (p.Gly328Asp) rs750614096 0.00001
NM_004409.5(DMPK):c.1618_1624del (p.Ser540fs)
NM_004409.5(DMPK):c.1789G>A (p.Val597Ile) rs1310210930
NM_004409.5(DMPK):c.395C>G (p.Thr132Arg) rs1600444823
NM_004409.5(DMPK):c.931C>T (p.Arg311Ter) rs762280354

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