ClinVar Miner

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

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Total variants: 12
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HGVS dbSNP
NM_006306.3(SMC1A):c.1136_1138AAG[2] (p.Glu381del) rs797045991
NM_006306.3(SMC1A):c.1267C>A (p.Gln423Lys) rs587784404
NM_006306.3(SMC1A):c.1457A>G (p.Asp486Gly) rs587784405
NM_006306.3(SMC1A):c.1754T>C (p.Leu585Pro) rs587784406
NM_006306.3(SMC1A):c.1877G>A (p.Arg626His) rs587784407
NM_006306.3(SMC1A):c.2046_2048del (p.Glu684del) rs797045992
NM_006306.3(SMC1A):c.2078G>A (p.Arg693Gln) rs587784408
NM_006306.3(SMC1A):c.2327T>A (p.Val776Glu) rs587784410
NM_006306.3(SMC1A):c.3070A>T (p.Asn1024Tyr) rs587784415
NM_006306.3(SMC1A):c.3146G>A (p.Arg1049Gln) rs587784416
NM_006306.3(SMC1A):c.3557T>C (p.Val1186Ala) rs587784419
NM_006306.3(SMC1A):c.421G>A (p.Glu141Lys) rs587784420

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