ClinVar Miner

List of variants in gene SMC1A reported as pathogenic by Genetic Services Laboratory, University of Chicago

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Total variants: 9
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HGVS dbSNP
NM_001281463.1(SMC1A):c.520C>T (p.Arg174Cys) rs587784422
NM_001281463.1(SMC1A):c.730_732AAG[2] (p.Lys246del) rs727503773
NM_006306.3(SMC1A):c.1193G>A (p.Arg398Gln) rs587784403
NM_006306.3(SMC1A):c.2131C>T (p.Arg711Trp) rs587784409
NM_006306.3(SMC1A):c.2368C>T (p.Arg790Trp) rs587784412
NM_006306.3(SMC1A):c.2369G>A (p.Arg790Gln) rs797045993
NM_006306.3(SMC1A):c.3254A>G (p.Tyr1085Cys) rs587784418
NM_006306.3(SMC1A):c.547C>T (p.Gln183Ter) rs587784421
NM_006306.3(SMC1A):c.616-2A>G rs587784423

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