ClinVar Miner

List of variants in gene SMAD3 reported as likely benign by Ambry Genetics

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Gene type:
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Total variants: 70
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HGVS dbSNP gnomAD frequency
NM_005902.4(SMAD3):c.316A>G (p.Met106Val) rs138550573 0.00099
NM_005902.4(SMAD3):c.483C>T (p.Pro161=) rs202203039 0.00038
NM_005902.4(SMAD3):c.747C>T (p.His249=) rs139907582 0.00025
NM_005902.4(SMAD3):c.636G>A (p.Met212Ile) rs202094530 0.00016
NM_005902.4(SMAD3):c.687G>A (p.Pro229=) rs138940179 0.00016
NM_005902.4(SMAD3):c.984G>A (p.Pro328=) rs150994304 0.00016
NM_005902.4(SMAD3):c.777C>T (p.Gly259=) rs145414319 0.00013
NM_005902.4(SMAD3):c.1092C>T (p.Tyr364=) rs753875974 0.00010
NM_005902.4(SMAD3):c.457C>T (p.Leu153=) rs145380987 0.00010
NM_005902.4(SMAD3):c.714C>T (p.Tyr238=) rs149443777 0.00009
NM_005902.4(SMAD3):c.783C>T (p.Thr261=) rs370620091 0.00009
NM_005902.4(SMAD3):c.885G>A (p.Arg295=) rs139616052 0.00009
NM_005902.4(SMAD3):c.933C>T (p.Ser311=) rs771384141 0.00008
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.990C>T (p.Thr330=) rs774470515 0.00006
NM_005902.4(SMAD3):c.1044C>T (p.Phe348=) rs751780616 0.00005
NM_005902.4(SMAD3):c.354C>T (p.Asp118=) rs752196822 0.00005
NM_005902.4(SMAD3):c.872-4G>A rs776577220 0.00005
NM_005902.4(SMAD3):c.1125C>T (p.Ser375=) rs144245324 0.00004
NM_005902.4(SMAD3):c.723C>T (p.Asn241=) rs144667334 0.00004
NM_005902.4(SMAD3):c.1102C>A (p.Arg368=) rs757106110 0.00003
NM_005902.4(SMAD3):c.333C>T (p.Phe111=) rs762612490 0.00003
NM_005902.4(SMAD3):c.102G>T (p.Ala34=) rs748990258 0.00002
NM_005902.4(SMAD3):c.1065G>A (p.Ser355=) rs756181827 0.00002
NM_005902.4(SMAD3):c.210C>T (p.Ser70=) rs1224939970 0.00002
NM_005902.4(SMAD3):c.372C>A (p.Pro124=) rs765624013 0.00002
NM_005902.4(SMAD3):c.738G>A (p.Glu246=) rs771037017 0.00002
NM_005902.4(SMAD3):c.897C>T (p.Ile299=) rs773943578 0.00002
NM_005902.4(SMAD3):c.1059C>A (p.Ala353=) rs767649515 0.00001
NM_005902.4(SMAD3):c.179T>C (p.Val60Ala) rs1242358787 0.00001
NM_005902.4(SMAD3):c.195C>T (p.Ile65=) rs368462984 0.00001
NM_005902.4(SMAD3):c.294C>T (p.His98=) rs781320332 0.00001
NM_005902.4(SMAD3):c.303C>T (p.His101=) rs762889441 0.00001
NM_005902.4(SMAD3):c.363C>T (p.Cys121=) rs760286714 0.00001
NM_005902.4(SMAD3):c.381C>T (p.Tyr127=) rs886038971 0.00001
NM_005902.4(SMAD3):c.414G>A (p.Val138=) rs771802144 0.00001
NM_005902.4(SMAD3):c.444C>T (p.Ala148=) rs563100221 0.00001
NM_005902.4(SMAD3):c.462C>T (p.Asp154=) rs756124653 0.00001
NM_005902.4(SMAD3):c.48G>A (p.Leu16=) rs886039210 0.00001
NM_005902.4(SMAD3):c.498C>T (p.Phe166=) rs1217111697 0.00001
NM_005902.4(SMAD3):c.501C>T (p.Pro167=) rs138395233 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.729C>T (p.Arg243=) rs569358776 0.00001
NM_005902.4(SMAD3):c.732C>T (p.Val244=) rs749576770 0.00001
NM_005902.4(SMAD3):c.744C>T (p.Phe248=) rs376023379 0.00001
NM_005902.4(SMAD3):c.798G>A (p.Ser266=) rs761391442 0.00001
NM_005902.4(SMAD3):c.801G>A (p.Glu267=) rs764958567 0.00001
NM_005902.4(SMAD3):c.822C>T (p.Leu274=) rs984900419 0.00001
NM_005902.4(SMAD3):c.1176C>A (p.Thr392=)
NM_005902.4(SMAD3):c.1206G>T (p.Gly402=) rs1963332496
NM_005902.4(SMAD3):c.1227G>A (p.Lys409=)
NM_005902.4(SMAD3):c.1245C>A (p.Gly415=) rs146659831
NM_005902.4(SMAD3):c.1245C>T (p.Gly415=) rs146659831
NM_005902.4(SMAD3):c.1254C>T (p.Ser418=)
NM_005902.4(SMAD3):c.126C>G (p.Leu42=) rs1595882137
NM_005902.4(SMAD3):c.165C>T (p.Ile55=)
NM_005902.4(SMAD3):c.186C>T (p.Thr62=)
NM_005902.4(SMAD3):c.261C>T (p.Ile87=) rs1421383761
NM_005902.4(SMAD3):c.309A>T (p.Leu103=) rs1065080
NM_005902.4(SMAD3):c.432A>G (p.Thr144=)
NM_005902.4(SMAD3):c.45G>C (p.Leu15=)
NM_005902.4(SMAD3):c.495C>T (p.Asn165=) rs374111837
NM_005902.4(SMAD3):c.672T>C (p.Val224=)
NM_005902.4(SMAD3):c.729C>A (p.Arg243=)
NM_005902.4(SMAD3):c.756G>A (p.Gln252=) rs1278345256
NM_005902.4(SMAD3):c.789C>T (p.Pro263=)
NM_005902.4(SMAD3):c.871+22_871+23insCCCCCCCCCCCCCCC
NM_005902.4(SMAD3):c.918G>A (p.Glu306=)

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