ClinVar Miner

Variants in gene SMC1A with conflicting interpretations "pathogenic" and "likely pathogenic"

Submission 1 (pathogenic) minimum review status: Submission 1 (pathogenic) method:
Submission 2 (likely pathogenic) minimum review status: Submission 2 (likely pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 10
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HGVS dbSNP gnomAD frequency
NM_006306.4(SMC1A):c.1495C>T (p.Arg499Ter) rs1556890135
NM_006306.4(SMC1A):c.2078G>A (p.Arg693Gln) rs587784408
NM_006306.4(SMC1A):c.2351T>C (p.Ile784Thr) rs387906702
NM_006306.4(SMC1A):c.2420G>A (p.Arg807His) rs1569356550
NM_006306.4(SMC1A):c.2611C>T (p.Gln871Ter) rs2075652085
NM_006306.4(SMC1A):c.2948A>G (p.Tyr983Cys) rs1556887759
NM_006306.4(SMC1A):c.3103C>T (p.Arg1035Ter) rs1556886124
NM_006306.4(SMC1A):c.3146G>A (p.Arg1049Gln) rs587784416
NM_006306.4(SMC1A):c.3254A>G (p.Tyr1085Cys) rs587784418
NM_006306.4(SMC1A):c.586C>T (p.Arg196Cys) rs587784422

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