ClinVar Miner

List of variants in gene SMAD3 reported as likely pathogenic by Invitae

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Gene type:
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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_005902.4(SMAD3):c.1129G>A (p.Val377Ile) rs730880216 0.00001
NM_005902.4(SMAD3):c.268C>T (p.Arg90Cys) rs1085307496 0.00001
NC_000015.10:g.(?_67190393)_(67190556_?)del
NC_000015.9:g.(?_67457213)_(67462962_?)dup
NM_005902.4(SMAD3):c.1010-1G>C rs2140323368
NM_005902.4(SMAD3):c.1247C>T (p.Ser416Phe) rs1963334285
NM_005902.4(SMAD3):c.1268G>T (p.Ser423Ile)
NM_005902.4(SMAD3):c.207-1G>C rs1962532975
NM_005902.4(SMAD3):c.209C>A (p.Ser70Tyr) rs2140293635
NM_005902.4(SMAD3):c.228G>T (p.Gln76His) rs886041046
NM_005902.4(SMAD3):c.346AAG[1] (p.Lys117del) rs2140294164
NM_005902.4(SMAD3):c.371C>T (p.Pro124Leu) rs886039050
NM_005902.4(SMAD3):c.532+1G>C rs2140295070
NM_005902.4(SMAD3):c.607+1G>T rs1060500771
NM_005902.4(SMAD3):c.659-2A>G
NM_005902.4(SMAD3):c.715G>A (p.Glu239Lys) rs387906853
NM_005902.4(SMAD3):c.772G>C (p.Asp258His) rs863223738
NM_005902.4(SMAD3):c.780C>G (p.Phe260Leu) rs1250669634
NM_005902.4(SMAD3):c.788C>G (p.Pro263Arg) rs387906855
NM_005902.4(SMAD3):c.814G>C (p.Gly272Arg) rs1057524127
NM_005902.4(SMAD3):c.872-2A>G
NM_005902.4(SMAD3):c.991G>T (p.Val331Phe) rs1320208623

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