ClinVar Miner

List of variants reported as likely benign for Congenital muscular hypertrophy-cerebral syndrome by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
Download table as spreadsheet
HGVS dbSNP
NM_001281463.1(SMC1A):c.-150C>T rs781999328
NM_001281463.1(SMC1A):c.1032G>A (p.Thr344=) rs140585416
NM_001281463.1(SMC1A):c.2884G>A (p.Gly962Ser) rs782381563
NM_001281463.1(SMC1A):c.3552+7C>T rs782267492
NM_001281463.1(SMC1A):c.3597C>T (p.Thr1199=) rs28997583
NM_006306.4(SMC1A):c.1863C>T (p.Asn621=) rs782665597
NM_006306.4(SMC1A):c.2039G>A (p.Arg680His) rs1556889522
NM_006306.4(SMC1A):c.2556C>A (p.Leu852=) rs1602407405
NM_006306.4(SMC1A):c.3063C>T (p.Ala1021=) rs202083908
NM_006306.4(SMC1A):c.3177C>T (p.Phe1059=) rs375312256
NM_006306.4(SMC1A):c.3286-4C>T rs1556885985
NM_006306.4(SMC1A):c.579G>A (p.Ala193=) rs199571320
NM_006306.4(SMC1A):c.764G>A (p.Arg255His)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.