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.*14C>T rs112727682
NM_001281463.1(SMC1A):c.1124A>G (p.Asn375Ser) rs782697006
NM_001281463.1(SMC1A):c.1127G>A (p.Arg376Gln) rs587784403
NM_001281463.1(SMC1A):c.1188+11G>C rs144354524
NM_001281463.1(SMC1A):c.1201C>A (p.Gln401Lys) rs587784404
NM_001281463.1(SMC1A):c.1391A>G (p.Asp464Gly) rs587784405
NM_001281463.1(SMC1A):c.1479+4A>C rs377270943
NM_001281463.1(SMC1A):c.1632G>A (p.Glu544=) rs7052858
NM_001281463.1(SMC1A):c.1688T>C (p.Leu563Pro) rs587784406
NM_001281463.1(SMC1A):c.1811G>A (p.Arg604His) rs587784407
NM_001281463.1(SMC1A):c.1980_1982del (p.Glu662del) rs797045992
NM_001281463.1(SMC1A):c.2012G>A (p.Arg671Gln) rs587784408
NM_001281463.1(SMC1A):c.2065C>T (p.Arg689Trp) rs587784409
NM_001281463.1(SMC1A):c.2125C>T (p.Leu709=) rs782301753
NM_001281463.1(SMC1A):c.2131-5T>C rs2297104
NM_001281463.1(SMC1A):c.219C>G (p.Ala73=) rs587784414
NM_001281463.1(SMC1A):c.2261T>A (p.Val754Glu) rs587784410
NM_001281463.1(SMC1A):c.2284A>G (p.Ile762Val) rs587784411
NM_001281463.1(SMC1A):c.2302C>T (p.Arg768Trp) rs587784412
NM_001281463.1(SMC1A):c.2303G>A (p.Arg768Gln) rs797045993
NM_001281463.1(SMC1A):c.2390T>G (p.Ile797Ser) rs587784413
NM_001281463.1(SMC1A):c.2722C>T (p.Leu908=) rs781912370
NM_001281463.1(SMC1A):c.2758C>T (p.Leu920=) rs139654605
NM_001281463.1(SMC1A):c.3004A>T (p.Asn1002Tyr) rs587784415
NM_001281463.1(SMC1A):c.3080G>A (p.Arg1027Gln) rs587784416
NM_001281463.1(SMC1A):c.3186C>T (p.Ile1062=) rs587784417
NM_001281463.1(SMC1A):c.3188A>G (p.Tyr1063Cys) rs587784418
NM_001281463.1(SMC1A):c.3240C>G (p.Asn1080Lys) rs797045994
NM_001281463.1(SMC1A):c.3384C>T (p.Ala1128=) rs142611198
NM_001281463.1(SMC1A):c.346-10C>T rs149219651
NM_001281463.1(SMC1A):c.3491T>C (p.Val1164Ala) rs587784419
NM_001281463.1(SMC1A):c.3552+10G>A rs782278656
NM_001281463.1(SMC1A):c.3552+7C>T rs782267492
NM_001281463.1(SMC1A):c.355G>A (p.Glu119Lys) rs587784420
NM_001281463.1(SMC1A):c.414T>A (p.Arg138=) rs782369322
NM_001281463.1(SMC1A):c.481C>T (p.Gln161Ter) rs587784421
NM_001281463.1(SMC1A):c.520C>T (p.Arg174Cys) rs587784422
NM_001281463.1(SMC1A):c.550-2A>G rs587784423
NM_001281463.1(SMC1A):c.550-6G>A rs587784424
NM_001281463.1(SMC1A):c.789-15C>T rs147791932
NM_006306.4(SMC1A):c.1136AAG[2] (p.Glu381del) rs797045991
NM_006306.4(SMC1A):c.796AAG[2] (p.Lys268del) rs727503773

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