List of variants in gene SMAD3 reported as pathogenic by OMIM

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: 10

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HGVS	dbSNP	gnomAD frequency
NM_005902.4(SMAD3):c.1081G>T (p.Glu361Ter)	rs387906856
NM_005902.4(SMAD3):c.313del (p.Ala105fs)	rs587776882
NM_005902.4(SMAD3):c.335C>T (p.Ala112Val)	rs387906854
NM_005902.4(SMAD3):c.653del (p.Asn218fs)	rs587776881
NM_005902.4(SMAD3):c.715G>A (p.Glu239Lys)	rs387906853
NM_005902.4(SMAD3):c.741_742del (p.Phe248fs)	rs587776880
NM_005902.4(SMAD3):c.782C>T (p.Thr261Ile)	rs387906851
NM_005902.4(SMAD3):c.788C>T (p.Pro263Leu)	rs387906855
NM_005902.4(SMAD3):c.836G>A (p.Arg279Lys)	rs387906852
NM_005902.4(SMAD3):c.859C>T (p.Arg287Trp)	rs387906850

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