ClinVar Miner

List of variants in gene SMAD4 studied for colorectal neoplasm

Included ClinVar conditions (84):
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Gene type:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_005359.6(SMAD4):c.*11C>T rs11663402 0.00538
NM_005359.6(SMAD4):c.354G>A (p.Ala118=) rs145988618 0.00268
NM_005359.6(SMAD4):c.1051G>A (p.Asp351Asn) rs1057519739
NM_005359.6(SMAD4):c.1051G>C (p.Asp351His) rs1057519739
NM_005359.6(SMAD4):c.1065C>A (p.Asp355Glu) rs1057519740
NM_005359.6(SMAD4):c.1081C>A (p.Arg361Ser) rs80338963
NM_005359.6(SMAD4):c.1081C>G (p.Arg361Gly) rs80338963
NM_005359.6(SMAD4):c.1081C>T (p.Arg361Cys) rs80338963
NM_005359.6(SMAD4):c.1082G>A (p.Arg361His) rs377767347
NM_005359.6(SMAD4):c.1082G>C (p.Arg361Pro) rs377767347
NM_005359.6(SMAD4):c.1156G>A (p.Gly386Ser) rs1057519962
NM_005359.6(SMAD4):c.1156G>T (p.Gly386Cys) rs1057519962
NM_005359.6(SMAD4):c.1157G>A (p.Gly386Asp) rs121912580
NM_005359.6(SMAD4):c.1157G>C (p.Gly386Ala) rs121912580
NM_005359.6(SMAD4):c.1157G>T (p.Gly386Val) rs121912580
NM_005359.6(SMAD4):c.1241del (p.Tyr413_Leu414insTer) rs1910183166
NM_005359.6(SMAD4):c.1245_1248del (p.Asp415Glufs) rs80338965
NM_005359.6(SMAD4):c.1609G>T (p.Asp537Tyr) rs1057519741
NM_005359.6(SMAD4):c.1610A>G (p.Asp537Gly) rs1555687605
NM_005359.6(SMAD4):c.733C>T (p.Gln245Ter) rs2144427253
NM_005359.6(SMAD4):c.989A>C (p.Glu330Ala) rs281875324

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