ClinVar Miner

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

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 54
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HGVS dbSNP gnomAD frequency
NM_018486.3(HDAC8):c.932C>T (p.Thr311Met) rs397515417 0.00001
NC_000005.10:g.(?_37045443)_(37048675_?)del
NC_000005.9:g.(?_37045525)_(37048797_?)del
NC_000005.9:g.(?_37057268)_(37061140_?)del
NC_000023.10:g.(?_71681834)_(71715138_?)dup
NM_005445.4(SMC3):c.1127A>C (p.Tyr376Ser)
NM_005445.4(SMC3):c.1417T>C (p.Trp473Arg) rs1861180567
NM_005445.4(SMC3):c.1901G>A (p.Arg634His) rs2134740210
NM_005445.4(SMC3):c.1925T>C (p.Leu642Pro) rs1590563617
NM_005445.4(SMC3):c.1942A>G (p.Met648Val) rs886041239
NM_005445.4(SMC3):c.2347A>C (p.Thr783Pro)
NM_005445.4(SMC3):c.2590T>C (p.Ser864Pro)
NM_006265.3(RAD21):c.1858A>T (p.Ile620Phe) rs764118613
NM_006306.4(SMC1A):c.1486C>T (p.Arg496Cys) rs2075701790
NM_006306.4(SMC1A):c.1546-2A>C
NM_006306.4(SMC1A):c.1694G>A (p.Gly565Glu) rs2146600012
NM_006306.4(SMC1A):c.1714C>T (p.Pro572Ser)
NM_006306.4(SMC1A):c.2314-2A>G rs1602409271
NM_006306.4(SMC1A):c.2314-2A>T rs1602409271
NM_006306.4(SMC1A):c.2314-7_2314-3del rs2146598341
NM_006306.4(SMC1A):c.2320G>T (p.Asp774Tyr) rs2075680329
NM_006306.4(SMC1A):c.3056_3082delinsTGCAG (p.Arg1019fs) rs1556886127
NM_006306.4(SMC1A):c.3254A>G (p.Tyr1085Cys) rs587784418
NM_006306.4(SMC1A):c.3344G>A (p.Cys1115Tyr) rs2146582443
NM_006306.4(SMC1A):c.3344G>T (p.Cys1115Phe) rs2146582443
NM_006306.4(SMC1A):c.3437+1G>A rs2146582412
NM_006306.4(SMC1A):c.3461T>A (p.Val1154Asp) rs1569351534
NM_006306.4(SMC1A):c.3497A>G (p.Asn1166Ser) rs1556885810
NM_006306.4(SMC1A):c.3508-2A>G rs2146581345
NM_006306.4(SMC1A):c.3652_3663del (p.Phe1218_Thr1221del) rs1569351341
NM_006306.4(SMC1A):c.855-1G>A
NM_018486.3(HDAC8):c.1005+2T>C rs2148039062
NM_018486.3(HDAC8):c.1019A>C (p.Tyr340Ser) rs1555949010
NM_018486.3(HDAC8):c.738-2A>G
NM_133433.4(NIPBL):c.3575-2A>G
NM_133433.4(NIPBL):c.3664+1G>A
NM_133433.4(NIPBL):c.4560+1G>C rs2149681631
NM_133433.4(NIPBL):c.4746ACT[3] (p.Leu1585dup) rs1748964402
NM_133433.4(NIPBL):c.5011-1G>C rs1561169166
NM_133433.4(NIPBL):c.5225+2T>G
NM_133433.4(NIPBL):c.5374G>C (p.Ala1792Pro) rs1554025675
NM_133433.4(NIPBL):c.5464G>A (p.Asp1822Asn)
NM_133433.4(NIPBL):c.5466T>G (p.Asp1822Glu)
NM_133433.4(NIPBL):c.5575-1G>A rs1750049152
NM_133433.4(NIPBL):c.6038G>A (p.Ser2013Asn) rs1554030233
NM_133433.4(NIPBL):c.6249+1G>A rs2149730953
NM_133433.4(NIPBL):c.6455G>C (p.Arg2152Pro) rs781297222
NM_133433.4(NIPBL):c.6860T>C (p.Leu2287Pro)
NM_133433.4(NIPBL):c.7079G>A (p.Gly2360Asp) rs2149742261
NM_133433.4(NIPBL):c.7169C>T (p.Ala2390Val)
NM_133433.4(NIPBL):c.7263+1G>A
NM_133433.4(NIPBL):c.7410+4A>G rs1561222738
NM_133433.4(NIPBL):c.7623G>A (p.Gln2541=) rs1754396332
NM_133433.4(NIPBL):c.7832A>G (p.Lys2611Arg) rs1554035311

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