ClinVar Miner

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

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Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_006306.4(SMC1A):c.412-10C>T rs149219651 0.01511
NM_006306.4(SMC1A):c.2197-5T>C rs2297104 0.00852
NM_006306.4(SMC1A):c.1698G>A (p.Glu566=) rs7052858 0.00452
NM_006306.4(SMC1A):c.*14C>T rs112727682 0.00436
NM_006306.4(SMC1A):c.855-15C>T rs147791932 0.00326
NM_006306.4(SMC1A):c.1254+11G>C rs144354524 0.00258
NM_006306.4(SMC1A):c.3450C>T (p.Ala1150=) rs142611198 0.00183
NM_006306.4(SMC1A):c.1545+4A>C rs377270943 0.00129
NM_006306.4(SMC1A):c.2824C>T (p.Leu942=) rs139654605 0.00039
NM_006306.4(SMC1A):c.3186C>G (p.Ile1062Met) rs372307204 0.00004
NM_006306.4(SMC1A):c.1254+4G>A rs781824288 0.00002
NM_006306.4(SMC1A):c.3618+7C>T rs782267492 0.00002
NM_006306.4(SMC1A):c.2191C>T (p.Leu731=) rs782301753 0.00001
NM_006306.4(SMC1A):c.2788C>T (p.Leu930=) rs781912370 0.00001
NM_006306.4(SMC1A):c.285C>G (p.Ala95=) rs587784414 0.00001
NM_006306.4(SMC1A):c.3252C>T (p.Ile1084=) rs587784417 0.00001
NM_006306.4(SMC1A):c.3618+10G>A rs782278656 0.00001
NM_006306.4(SMC1A):c.480T>A (p.Arg160=) rs782369322 0.00001
NM_006306.4(SMC1A):c.1136AAG[2] (p.Glu381del) rs797045991
NM_006306.4(SMC1A):c.1190A>G (p.Asn397Ser) rs782697006
NM_006306.4(SMC1A):c.1193G>A (p.Arg398Gln) rs587784403
NM_006306.4(SMC1A):c.1267C>A (p.Gln423Lys) rs587784404
NM_006306.4(SMC1A):c.1457A>G (p.Asp486Gly) rs587784405
NM_006306.4(SMC1A):c.1754T>C (p.Leu585Pro) rs587784406
NM_006306.4(SMC1A):c.1877G>A (p.Arg626His) rs587784407
NM_006306.4(SMC1A):c.2046_2048del (p.Glu684del) rs797045992
NM_006306.4(SMC1A):c.2078G>A (p.Arg693Gln) rs587784408
NM_006306.4(SMC1A):c.2131C>T (p.Arg711Trp) rs587784409
NM_006306.4(SMC1A):c.2327T>A (p.Val776Glu) rs587784410
NM_006306.4(SMC1A):c.2350A>G (p.Ile784Val) rs587784411
NM_006306.4(SMC1A):c.2368C>T (p.Arg790Trp) rs587784412
NM_006306.4(SMC1A):c.2369G>A (p.Arg790Gln) rs797045993
NM_006306.4(SMC1A):c.2456T>G (p.Ile819Ser) rs587784413
NM_006306.4(SMC1A):c.3070A>T (p.Asn1024Tyr) rs587784415
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.3306C>G (p.Asn1102Lys) rs797045994
NM_006306.4(SMC1A):c.3557T>C (p.Val1186Ala) rs587784419
NM_006306.4(SMC1A):c.421G>A (p.Glu141Lys) rs587784420
NM_006306.4(SMC1A):c.547C>T (p.Gln183Ter) rs587784421
NM_006306.4(SMC1A):c.586C>T (p.Arg196Cys) rs587784422
NM_006306.4(SMC1A):c.616-2A>G rs587784423
NM_006306.4(SMC1A):c.616-6G>A rs587784424
NM_006306.4(SMC1A):c.796AAG[2] (p.Lys268del) rs727503773

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