List of variants in gene SMAD3 reported as pathogenic for not provided

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_005902.4(SMAD3):c.1102C>T (p.Arg368Ter)	rs757106110
NM_005902.4(SMAD3):c.154G>T (p.Glu52Ter)	rs863223762
NM_005902.4(SMAD3):c.263dup (p.Tyr88Ter)	rs863223770
NM_005902.4(SMAD3):c.401-6G>A	rs745672741
NM_005902.4(SMAD3):c.427_431del (p.His143fs)	rs1060500773
NM_005902.4(SMAD3):c.455del (p.Pro152fs)	rs863223759
NM_005902.4(SMAD3):c.483del (p.Glu162fs)	rs863223771
NM_005902.4(SMAD3):c.696G>A (p.Trp232Ter)
NM_005902.4(SMAD3):c.769del (p.Val257fs)	rs1555413562
NM_005902.4(SMAD3):c.802C>T (p.Arg268Cys)	rs794727798
NM_005902.4(SMAD3):c.82G>T (p.Glu28Ter)	rs863223750
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.990dup (p.Val331fs)	rs863223754

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