ClinVar Miner

List of variants in gene SMAD4 reported by OMIM

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Total variants: 17
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HGVS dbSNP
NM_005359.5(SMAD4):c.1054G>A (p.Gly352Arg) rs121912581
NM_005359.5(SMAD4):c.1072G>T (p.Gly358Ter) rs121912576
NM_005359.5(SMAD4):c.1081C>T (p.Arg361Cys) rs80338963
NM_005359.5(SMAD4):c.1157G>A (p.Gly386Asp) rs121912580
NM_005359.5(SMAD4):c.1236C>G (p.Tyr412Ter) rs121912577
NM_005359.5(SMAD4):c.1333C>T (p.Arg445Ter) rs377767360
NM_005359.5(SMAD4):c.1477G>C (p.Asp493His) rs121912578
NM_005359.5(SMAD4):c.1498A>G (p.Ile500Val) rs281875322
NM_005359.5(SMAD4):c.1499T>C (p.Ile500Thr) rs281875321
NM_005359.5(SMAD4):c.1500A>G (p.Ile500Met) rs281875320
NM_005359.5(SMAD4):c.1543A>T (p.Arg515Ter) rs121912579
SMAD4, 1-BP INS
SMAD4, 14-BP DEL, NT1612
SMAD4, 2-BP DEL
SMAD4, 2-BP DEL, 959AC
SMAD4, 2-BP DEL/1-BP INS, 1596CC/T
SMAD4, 4-BP DEL, NT1372

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