ClinVar Miner

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

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Total variants: 42
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HGVS dbSNP
NM_001281463.1(SMC1A):c.2131-5T>C rs2297104
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.*14C>T rs112727682
NM_006306.3(SMC1A):c.1136_1138AAG[2] (p.Glu381del) rs797045991
NM_006306.3(SMC1A):c.1190A>G (p.Asn397Ser) rs782697006
NM_006306.3(SMC1A):c.1193G>A (p.Arg398Gln) rs587784403
NM_006306.3(SMC1A):c.1254+11G>C rs144354524
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.1545+4A>C rs377270943
NM_006306.3(SMC1A):c.1698G>A (p.Glu566=) rs7052858
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.2131C>T (p.Arg711Trp) rs587784409
NM_006306.3(SMC1A):c.2191C>T (p.Leu731=) rs782301753
NM_006306.3(SMC1A):c.2327T>A (p.Val776Glu) rs587784410
NM_006306.3(SMC1A):c.2350A>G (p.Ile784Val) rs587784411
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.2456T>G (p.Ile819Ser) rs587784413
NM_006306.3(SMC1A):c.2788C>T (p.Leu930=) rs781912370
NM_006306.3(SMC1A):c.2824C>T (p.Leu942=) rs139654605
NM_006306.3(SMC1A):c.285C>G (p.Ala95=) rs587784414
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.3252C>T (p.Ile1084=) rs587784417
NM_006306.3(SMC1A):c.3254A>G (p.Tyr1085Cys) rs587784418
NM_006306.3(SMC1A):c.3306C>G (p.Asn1102Lys) rs797045994
NM_006306.3(SMC1A):c.3450C>T (p.Ala1150=) rs142611198
NM_006306.3(SMC1A):c.3557T>C (p.Val1186Ala) rs587784419
NM_006306.3(SMC1A):c.3618+10G>A rs782278656
NM_006306.3(SMC1A):c.3618+7C>T rs782267492
NM_006306.3(SMC1A):c.412-10C>T rs149219651
NM_006306.3(SMC1A):c.421G>A (p.Glu141Lys) rs587784420
NM_006306.3(SMC1A):c.480T>A (p.Arg160=) rs782369322
NM_006306.3(SMC1A):c.547C>T (p.Gln183Ter) rs587784421
NM_006306.3(SMC1A):c.616-2A>G rs587784423
NM_006306.3(SMC1A):c.616-6G>A rs587784424
NM_006306.3(SMC1A):c.855-15C>T rs147791932

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