ClinVar Miner

List of variants in gene SMAD3 reported by CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario

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Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_005902.4(SMAD3):c.309A>G (p.Leu103=) rs1065080 0.87365
NM_005902.4(SMAD3):c.508A>G (p.Ile170Val) rs35874463 0.03414
NM_005902.4(SMAD3):c.870C>T (p.Ile290=) rs117185005 0.01464
NM_005902.4(SMAD3):c.66G>A (p.Glu22=) rs187952791 0.00039
NM_005902.4(SMAD3):c.636G>A (p.Met212Ile) rs202094530 0.00016
NM_005902.4(SMAD3):c.984G>A (p.Pro328=) rs150994304 0.00016
NM_005902.4(SMAD3):c.714C>T (p.Tyr238=) rs149443777 0.00009
NM_005902.4(SMAD3):c.885G>A (p.Arg295=) rs139616052 0.00009
NM_005902.4(SMAD3):c.1128C>T (p.Phe376=) rs560348826 0.00007
NM_005902.4(SMAD3):c.510C>T (p.Ile170=) rs375925515 0.00006
NM_005902.4(SMAD3):c.401-7C>T rs774268232 0.00005
NM_005902.4(SMAD3):c.440C>T (p.Pro147Leu) rs377026877 0.00005
NM_005902.4(SMAD3):c.1258C>T (p.Arg420Cys) rs1206533102 0.00003
NM_005902.4(SMAD3):c.738G>A (p.Glu246=) rs771037017 0.00002
NM_005902.4(SMAD3):c.1010-10T>C rs1179340088 0.00001
NM_005902.4(SMAD3):c.597C>T (p.Ser199=) rs769225687 0.00001
NM_005902.4(SMAD3):c.603C>T (p.Asp201=) rs774814963 0.00001
NM_005902.4(SMAD3):c.633G>A (p.Pro211=) rs776009102 0.00001
NM_005902.4(SMAD3):c.798G>A (p.Ser266=) rs761391442 0.00001
NM_005902.4(SMAD3):c.1009+1G>A rs1963180892
NM_005902.4(SMAD3):c.106A>T (p.Lys36Ter)
NM_005902.4(SMAD3):c.1118G>A (p.Arg373His) rs1060500766
NM_005902.4(SMAD3):c.1132A>G (p.Lys378Glu) rs2140323743
NM_005902.4(SMAD3):c.1154+1G>A rs2140323831
NM_005902.4(SMAD3):c.1155-1G>C rs1963331116
NM_005902.4(SMAD3):c.1185G>T (p.Trp395Cys)
NM_005902.4(SMAD3):c.185C>T (p.Thr62Ile) rs1959916186
NM_005902.4(SMAD3):c.229G>A (p.Val77Met)
NM_005902.4(SMAD3):c.263A>G (p.Tyr88Cys) rs1595941635
NM_005902.4(SMAD3):c.269G>A (p.Arg90His) rs886038803
NM_005902.4(SMAD3):c.278G>A (p.Arg93Gln) rs863223765
NM_005902.4(SMAD3):c.278G>T (p.Arg93Leu) rs863223765
NM_005902.4(SMAD3):c.431_432del (p.Thr144fs) rs2140294762
NM_005902.4(SMAD3):c.441G>A (p.Pro147=) rs140275295
NM_005902.4(SMAD3):c.441G>T (p.Pro147=) rs140275295
NM_005902.4(SMAD3):c.445G>A (p.Glu149Lys) rs1429991069
NM_005902.4(SMAD3):c.533-1G>A rs1350129614
NM_005902.4(SMAD3):c.666G>A (p.Gln222=) rs2140313814
NM_005902.4(SMAD3):c.720_743del (p.Asn241_Phe248del) rs1566999378
NM_005902.4(SMAD3):c.772_797delinsT (p.Asp258fs)
NM_005902.4(SMAD3):c.773A>C (p.Asp258Ala) rs1566999483
NM_005902.4(SMAD3):c.803G>A (p.Arg268His) rs863223740
NM_005902.4(SMAD3):c.859C>T (p.Arg287Trp) rs387906850
NM_005902.4(SMAD3):c.860G>A (p.Arg287Gln) rs730880214
NM_005902.4(SMAD3):c.872-1G>A rs1555413988
NM_005902.4(SMAD3):c.925A>G (p.Ser309Gly) rs754409301

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