ClinVar Miner

List of variants reported as likely pathogenic for Cornelia de Lange syndrome 2

Included ClinVar conditions (2):
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Total variants: 27
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HGVS dbSNP
NM_006306.3(SMC1A):c.110G>T (p.Gly37Val) rs1569359540
NM_006306.3(SMC1A):c.1136_1138AAG[2] (p.Glu381del) rs797045991
NM_006306.3(SMC1A):c.124A>G (p.Met42Val) rs1556891104
NM_006306.3(SMC1A):c.1267C>A (p.Gln423Lys) rs587784404
NM_006306.3(SMC1A):c.128A>T (p.Asp43Val) rs1569359535
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.2314-2A>G
NM_006306.3(SMC1A):c.2327T>A (p.Val776Glu) rs587784410
NM_006306.3(SMC1A):c.2351T>C (p.Ile784Thr) rs387906702
NM_006306.3(SMC1A):c.2368C>T (p.Arg790Trp) rs587784412
NM_006306.3(SMC1A):c.2420G>A (p.Arg807His) rs1569356550
NM_006306.3(SMC1A):c.3056_3082delinsTGCAG (p.Arg1019fs) rs1556886127
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.3254A>G (p.Tyr1085Cys) rs587784418
NM_006306.3(SMC1A):c.3373A>G (p.Met1125Val) rs1057519499
NM_006306.3(SMC1A):c.3461T>A (p.Val1154Asp) rs1569351534
NM_006306.3(SMC1A):c.3468T>G (p.Asp1156Glu) rs1556885815
NM_006306.3(SMC1A):c.3557T>C (p.Val1186Ala) rs587784419
NM_006306.3(SMC1A):c.3652_3663del (p.Phe1218_Thr1221del) rs1569351341
NM_006306.3(SMC1A):c.421G>A (p.Glu141Lys) rs587784420
NM_006306.3(SMC1A):c.586C>T (p.Arg196Cys) rs587784422
NM_006306.3(SMC1A):c.95G>A (p.Gly32Glu) rs1556892359

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