ClinVar Miner

List of variants studied for Cornelia de Lange syndrome by Mendelics

Included ClinVar conditions (12):
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ClinVar version:
Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_133433.4(NIPBL):c.4378C>T (p.Leu1460Phe) rs1580456602 0.00001
NM_133433.4(NIPBL):c.5195A>G (p.Lys1732Arg) rs775226349 0.00001
NM_001379291.1(BRD4):c.4020+1G>A rs2145497734
NM_005445.4(SMC3):c.1417T>C (p.Trp473Arg) rs1861180567
NM_005445.4(SMC3):c.2044G>A (p.Val682Ile) rs2134745322
NM_005445.4(SMC3):c.2215A>G (p.Met739Val) rs1590567950
NM_005445.4(SMC3):c.932A>G (p.Asp311Gly) rs1590556378
NM_006265.3(RAD21):c.144+1G>A rs1586275911
NM_006265.3(RAD21):c.815-17_815-5del rs35902828
NM_006306.4(SMC1A):c.1964G>A (p.Gly655Glu) rs1602410098
NM_006306.4(SMC1A):c.2447G>A (p.Arg816His) rs886044819
NM_006306.4(SMC1A):c.2814dup (p.Lys939Ter) rs1602405588
NM_006306.4(SMC1A):c.3022C>T (p.Gln1008Ter) rs1602398950
NM_006306.4(SMC1A):c.411+1G>C rs2146606502
NM_006306.4(SMC1A):c.583G>T (p.Glu195Ter) rs1602413582
NM_006306.4(SMC1A):c.615+2T>C rs868985177
NM_018486.3(HDAC8):c.1019A>G (p.Tyr340Cys) rs1555949010
NM_018486.3(HDAC8):c.356C>T (p.Thr119Met) rs587779380
NM_018486.3(HDAC8):c.738-1G>A rs1602975601
NM_133433.4(NIPBL):c.226del (p.His76fs) rs1580323151
NM_133433.4(NIPBL):c.3316C>T (p.Arg1106Ter) rs2149668942
NM_133433.4(NIPBL):c.5329-15A>G rs587783968
NM_133433.4(NIPBL):c.6275T>G (p.Leu2092Arg) rs1579557913
NM_133433.4(NIPBL):c.6763+5G>A rs2149737162
NM_133433.4(NIPBL):c.7307C>T (p.Ala2436Val) rs2149750114

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