ClinVar Miner

List of variants in gene SMAD4 reported as pathogenic for Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome

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Total variants: 26
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HGVS dbSNP
NM_005359.5(SMAD4):c.1054G>A (p.Gly352Arg) rs121912581
NM_005359.5(SMAD4):c.1055G>A (p.Gly352Glu) rs377767345
NM_005359.5(SMAD4):c.1081C>T (p.Arg361Cys) rs80338963
NM_005359.5(SMAD4):c.1082G>T (p.Arg361Leu) rs377767347
NM_005359.5(SMAD4):c.1088_1090delGTT (p.Cys363del) rs377767349
NM_005359.5(SMAD4):c.1102_1103delTC (p.Ser368Glnfs) rs377767351
NM_005359.5(SMAD4):c.1148T>A (p.Ile383Lys) rs377767355
NM_005359.5(SMAD4):c.1157G>A (p.Gly386Asp) rs121912580
NM_005359.5(SMAD4):c.1245_1248delCAGA (p.Asp415Glufs) rs80338965
NM_005359.5(SMAD4):c.1308+2T>C rs1555686624
NM_005359.5(SMAD4):c.1333C>T (p.Arg445Ter) rs377767360
NM_005359.5(SMAD4):c.1447+1G>A rs377767387
NM_005359.5(SMAD4):c.1586_1587dup (p.His530Tyrfs) rs1555687599
NM_005359.5(SMAD4):c.1594delG (p.Ala532Profs) rs377767378
NM_005359.5(SMAD4):c.1596_1597delCCinsT (p.Leu533Serfs) rs377767379
NM_005359.5(SMAD4):c.1596delC (p.Leu533Serfs) rs377767380
NM_005359.5(SMAD4):c.1598T>C (p.Leu533Pro) rs377767382
NM_005359.5(SMAD4):c.1598T>G (p.Leu533Arg) rs377767382
NM_005359.5(SMAD4):c.1600C>T (p.Gln534Ter) rs377767383
NM_005359.5(SMAD4):c.1612_1625del (p.Glu538Hisfs) rs377767385
NM_005359.5(SMAD4):c.302G>A (p.Trp101Ter) rs377767323
NM_005359.5(SMAD4):c.692dupG (p.Ser232Glnfs) rs377767334
NM_005359.5:c.1228-1229delCA rs483352871
SMAD4, 1-BP INS
SMAD4, 14-BP DEL, NT1612
SMAD4, 2-BP DEL/1-BP INS, 1596CC/T

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