ClinVar Miner

List of variants studied for Cornelia de Lange syndrome 2 by Genetic Services Laboratory, University of Chicago

Included ClinVar conditions (2):
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Total variants: 27
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HGVS dbSNP
NM_001281463.1(SMC1A):c.1070_1072AAG[2] (p.Glu359del) rs797045991
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.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.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.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.3491T>C (p.Val1164Ala) rs587784419
NM_001281463.1(SMC1A):c.355G>A (p.Glu119Lys) rs587784420
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.730_732AAG[2] (p.Lys246del) rs727503773
NM_001281463.1(SMC1A):c.789-15C>T rs147791932

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