ClinVar Miner

List of variants reported as uncertain significance for Cornelia de Lange syndrome by Invitae

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 40
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HGVS dbSNP
NC_000023.10:g.(?_53349615)_(53410174_?)dup
NM_005445.3(SMC3):c.125T>C (p.Phe42Ser) rs1554881901
NM_005445.3(SMC3):c.1451C>G (p.Ala484Gly) rs758758728
NM_005445.3(SMC3):c.3400T>C (p.Cys1134Arg) rs1554884207
NM_005445.3(SMC3):c.424G>A (p.Gly142Arg) rs1554882316
NM_005445.3(SMC3):c.661C>T (p.Arg221Ter)
NM_006265.2(RAD21):c.145-4A>G rs752213732
NM_006265.2(RAD21):c.1576G>C (p.Glu526Gln) rs373026310
NM_006306.3(SMC1A):c.1190A>G (p.Asn397Ser) rs782697006
NM_006306.3(SMC1A):c.1254+5G>A
NM_006306.3(SMC1A):c.1876C>T (p.Arg626Cys) rs1556889577
NM_006306.3(SMC1A):c.1877G>A (p.Arg626His) rs587784407
NM_006306.3(SMC1A):c.2078G>A (p.Arg693Gln) rs587784408
NM_006306.3(SMC1A):c.227A>G (p.Asn76Ser)
NM_006306.3(SMC1A):c.2420+5G>A
NM_006306.3(SMC1A):c.2446C>T (p.Arg816Cys) rs1556888586
NM_006306.3(SMC1A):c.261_272delGGGTGCTGAGGA (p.Glu87_Glu90del)
NM_006306.3(SMC1A):c.2708A>G (p.Lys903Arg)
NM_006306.3(SMC1A):c.2738C>T (p.Thr913Ile)
NM_006306.3(SMC1A):c.2792A>G (p.Gln931Arg)
NM_006306.3(SMC1A):c.2950G>A (p.Gly984Ser) rs782381563
NM_006306.3(SMC1A):c.2977G>T (p.Ala993Ser)
NM_006306.3(SMC1A):c.3146G>A (p.Arg1049Gln) rs587784416
NM_006306.3(SMC1A):c.3186C>G (p.Ile1062Met)
NM_006306.3(SMC1A):c.3461T>A (p.Val1154Asp)
NM_006306.3(SMC1A):c.3507+3G>A rs1556885809
NM_006306.3(SMC1A):c.3592G>C (p.Glu1198Gln) rs782175064
NM_006306.3(SMC1A):c.859_861delAAG (p.Lys287del) rs1556890626
NM_006306.3(SMC1A):c.920A>G (p.His307Arg) rs1556890616
NM_018486.2(HDAC8):c.1112-2A>G rs1131690790
NM_018486.2(HDAC8):c.737+3A>G
NM_133433.3(NIPBL):c.1247C>G (p.Ala416Gly) rs894352601
NM_133433.3(NIPBL):c.1583C>T (p.Thr528Met) rs574981584
NM_133433.3(NIPBL):c.3093C>G (p.Ile1031Met)
NM_133433.3(NIPBL):c.3493C>T (p.Leu1165Phe) rs540365485
NM_133433.3(NIPBL):c.4439T>G (p.Met1480Arg) rs587783948
NM_133433.3(NIPBL):c.5366G>A (p.Arg1789Gln) rs80358380
NM_133433.3(NIPBL):c.6033A>T (p.Leu2011Phe) rs1554030218
NM_133433.3(NIPBL):c.64+6T>A rs1554010766
NM_133433.3(NIPBL):c.7263+3A>G rs1554033589

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