ClinVar Miner

List of variants in gene SMAD4 reported as pathogenic by OMIM

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_005359.6(SMAD4):c.1042_1043del (p.Val348fs) rs377767344
NM_005359.6(SMAD4):c.1054G>A (p.Gly352Arg) rs121912581
NM_005359.6(SMAD4):c.1072G>T (p.Gly358Ter) rs121912576
NM_005359.6(SMAD4):c.1081C>T (p.Arg361Cys) rs80338963
NM_005359.6(SMAD4):c.1157G>A (p.Gly386Asp) rs121912580
NM_005359.6(SMAD4):c.1236C>G (p.Tyr412Ter) rs121912577
NM_005359.6(SMAD4):c.1245_1248del (p.Asp415Glufs) rs80338965
NM_005359.6(SMAD4):c.1333C>T (p.Arg445Ter) rs377767360
NM_005359.6(SMAD4):c.1477G>C (p.Asp493His) rs121912578
NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val) rs281875322
NM_005359.6(SMAD4):c.1499T>C (p.Ile500Thr) rs281875321
NM_005359.6(SMAD4):c.1500A>G (p.Ile500Met) rs281875320
NM_005359.6(SMAD4):c.1543A>T (p.Arg515Ter) rs121912579
NM_005359.6(SMAD4):c.1596_1597delinsT (p.Leu533fs) rs377767379
NM_005359.6(SMAD4):c.1612_1625del (p.Glu538fs) rs377767385
NM_005359.6(SMAD4):c.692dup (p.Ser232fs) rs377767334
NM_005359.6(SMAD4):c.831_832del (p.Thr277_Pro278insTer) rs377767336

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