List of variants in gene SMAD4 reported as likely benign for bone disorder

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: 19

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HGVS	dbSNP	gnomAD frequency
NM_005359.6(SMAD4):c.1169_1173del	rs138404813	0.00832
NM_005359.6(SMAD4):c.*4867dup	rs571773833	0.00286
NM_005359.6(SMAD4):c.*2968del	rs574286440	0.00280
NM_005359.6(SMAD4):c.1140-10T>C	rs186332162	0.00205
NM_005359.6(SMAD4):c.1573A>G (p.Ile525Val)	rs149755320	0.00068
NM_005359.6(SMAD4):c.1392C>T (p.Ala464=)	rs140487104	0.00033
NM_005359.6(SMAD4):c.21G>A (p.Thr7=)	rs142292491	0.00010
NM_005359.6(SMAD4):c.852A>G (p.Gln284=)	rs144378484	0.00008
NC_000018.10:g.51085053C>T	rs534182161	0.00006
NM_005359.6(SMAD4):c.1653A>G (p.Leu551=)	rs199526820	0.00004
NC_000018.10:g.51085055C>G	rs186324049	0.00003
NM_005359.6(SMAD4):c.342T>C (p.Tyr114=)	rs757211048	0.00002
NM_005359.6(SMAD4):c.677C>T (p.Ala226Val)	rs539739051	0.00002
NM_005359.6(SMAD4):c.1125C>T (p.Ala375=)	rs1060504023	0.00001
NM_005359.6(SMAD4):c.*3878dup	rs373831598
NM_005359.6(SMAD4):c.*4585GA[1]	rs374333786
NM_005359.6(SMAD4):c.*6353del	rs573785159
NM_005359.6(SMAD4):c.298A>C (p.Arg100=)	rs751154230
NM_005359.6(SMAD4):c.954T>C (p.Pro318=)	rs773615487

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