ClinVar Miner

List of variants in gene SMC1A reported by Center for Human Genetics, University Hospitals Case Medical Center/Case Western Reserve University

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_006306.4(SMC1A):c.2853_2856del (p.Ser951fs) rs863225458
NM_006306.4(SMC1A):c.3549_3552dup (p.Ile1185fs) rs863225459

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