List of variants in gene SMC3 reported as likely pathogenic for congenital limb malformation

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: 36

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HGVS	dbSNP	gnomAD frequency
NM_005445.4(SMC3):c.1127A>C (p.Tyr376Ser)
NM_005445.4(SMC3):c.1343dup (p.Glu449fs)	rs2134735614
NM_005445.4(SMC3):c.1417T>C (p.Trp473Arg)	rs1861180567
NM_005445.4(SMC3):c.1417T>G (p.Trp473Gly)	rs1861180567
NM_005445.4(SMC3):c.1419G>C (p.Trp473Cys)	rs1861180589
NM_005445.4(SMC3):c.1450GCT[1] (p.Ala485del)	rs1564792181
NM_005445.4(SMC3):c.181C>T (p.Arg61Trp)	rs866273473
NM_005445.4(SMC3):c.1901G>A (p.Arg634His)	rs2134740210
NM_005445.4(SMC3):c.1925T>C (p.Leu642Pro)	rs1590563617
NM_005445.4(SMC3):c.1942A>G (p.Met648Val)	rs886041239
NM_005445.4(SMC3):c.1964G>A (p.Gly655Asp)	rs587784425
NM_005445.4(SMC3):c.2005T>G (p.Tyr669Asp)	rs776056911
NM_005445.4(SMC3):c.2111T>C (p.Ile704Thr)	rs1564794233
NM_005445.4(SMC3):c.2338G>C (p.Glu780Gln)	rs587784427
NM_005445.4(SMC3):c.2347A>C (p.Thr783Pro)
NM_005445.4(SMC3):c.2399T>C (p.Leu800Pro)
NM_005445.4(SMC3):c.2495T>C (p.Leu832Pro)	rs1861369323
NM_005445.4(SMC3):c.2513A>C (p.Lys838Thr)	rs2134750930
NM_005445.4(SMC3):c.2590T>C (p.Ser864Pro)
NM_005445.4(SMC3):c.2636G>C (p.Arg879Pro)	rs797045996
NM_005445.4(SMC3):c.283G>A (p.Glu95Lys)	rs869312672
NM_005445.4(SMC3):c.2952_2954del (p.Lys985del)	rs1590571077
NM_005445.4(SMC3):c.3007C>T (p.Arg1003Cys)	rs1861395935
NM_005445.4(SMC3):c.3362C>T (p.Ser1121Phe)	rs1564796294
NM_005445.4(SMC3):c.3373C>G (p.Leu1125Val)	rs901512521
NM_005445.4(SMC3):c.3442G>T (p.Ala1148Ser)	rs2134754195
NM_005445.4(SMC3):c.3563G>T (p.Gly1188Val)	rs1590572104
NM_005445.4(SMC3):c.3625_3630dup (p.Val1210_Glu1211insPheVal)
NM_005445.4(SMC3):c.381C>G (p.Ser127Arg)	rs748876063
NM_005445.4(SMC3):c.435C>A (p.Asn145Lys)
NM_005445.4(SMC3):c.463A>G (p.Arg155Gly)
NM_005445.4(SMC3):c.587T>C (p.Ile196Thr)	rs797045070
NM_005445.4(SMC3):c.707G>A (p.Arg236His)
NM_005445.4(SMC3):c.707G>C (p.Arg236Pro)	rs587784429
NM_005445.4(SMC3):c.856GAA[3] (p.Glu287dup)	rs797045997
NM_005445.4(SMC3):c.932A>G (p.Asp311Gly)	rs1590556378

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