ClinVar Miner

List of variants reported as uncertain significance for Cornelia de Lange syndrome by Genetic Services Laboratory, University of Chicago

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 71
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HGVS dbSNP
NM_005445.3(SMC3):c.1280A>G (p.Lys427Arg) rs142524280
NM_005445.3(SMC3):c.1581T>C (p.His527=) rs182445355
NM_005445.3(SMC3):c.1680T>C (p.Tyr560=) rs75817442
NM_005445.3(SMC3):c.2264C>T (p.Pro755Leu) rs76568464
NM_005445.3(SMC3):c.2268+4C>T rs587784426
NM_005445.3(SMC3):c.2299T>C (p.Leu767=) rs139763232
NM_005445.3(SMC3):c.2329T>C (p.Leu777=) rs76625999
NM_005445.3(SMC3):c.2427+13C>T rs190798929
NM_005445.3(SMC3):c.2493T>C (p.Tyr831=) rs112525060
NM_005445.3(SMC3):c.2535+15T>G rs3818903
NM_005445.3(SMC3):c.255A>G (p.Ser85=) rs146433240
NM_005445.3(SMC3):c.2710T>C (p.Trp904Arg) rs112281749
NM_005445.3(SMC3):c.2934G>A (p.Lys978=) rs147463420
NM_005445.3(SMC3):c.2964T>C (p.Asp988=) rs111611128
NM_005445.3(SMC3):c.377A>G (p.Glu126Gly) rs113411202
NM_005445.3(SMC3):c.507C>T (p.Asp169=) rs370909218
NM_006265.2(RAD21):c.1617A>G (p.Glu539=) rs138040512
NM_006265.2(RAD21):c.1782C>T (p.Ala594=) rs61737172
NM_006306.3(SMC1A):c.1254+11G>C rs144354524
NM_006306.3(SMC1A):c.1545+4A>C rs377270943
NM_006306.3(SMC1A):c.2350A>G (p.Ile784Val) rs587784411
NM_006306.3(SMC1A):c.285C>G (p.Ala95=) rs587784414
NM_006306.3(SMC1A):c.3252C>T (p.Ile1084=) rs587784417
NM_006306.3(SMC1A):c.855-15C>T rs147791932
NM_018486.2(HDAC8):c.-5G>T rs587783662
NM_018486.2(HDAC8):c.24G>A (p.Ala8=) rs61736843
NM_018486.2(HDAC8):c.421_423del (p.Trp141del) rs587783664
NM_133433.3(NIPBL):c.1212C>T (p.Pro404=) rs80358349
NM_133433.3(NIPBL):c.1591A>G (p.Thr531Ala) rs587783890
NM_133433.3(NIPBL):c.2065A>T (p.Asn689Tyr) rs201482152
NM_133433.3(NIPBL):c.2256A>G (p.Glu752=) rs148075057
NM_133433.3(NIPBL):c.2294G>A (p.Arg765Lys) rs185678374
NM_133433.3(NIPBL):c.2471C>T (p.Ser824Leu) rs587783904
NM_133433.3(NIPBL):c.2505G>T (p.Gly835=) rs587783908
NM_133433.3(NIPBL):c.2903A>G (p.Asn968Ser) rs180747605
NM_133433.3(NIPBL):c.3103C>G (p.Pro1035Ala) rs587783915
NM_133433.3(NIPBL):c.3109A>G (p.Lys1037Glu) rs587783916
NM_133433.3(NIPBL):c.332G>A (p.Ser111Asn) rs587783920
NM_133433.3(NIPBL):c.3369A>C (p.Arg1123Ser) rs140344071
NM_133433.3(NIPBL):c.3423A>G (p.Ser1141=) rs571024836
NM_133433.3(NIPBL):c.3503-9T>G rs587783924
NM_133433.3(NIPBL):c.3851A>G (p.Asn1284Ser) rs143152112
NM_133433.3(NIPBL):c.3856-12A>C rs199847583
NM_133433.3(NIPBL):c.3868G>A (p.Glu1290Lys) rs587783935
NM_133433.3(NIPBL):c.3897T>C (p.Leu1299=) rs80358354
NM_133433.3(NIPBL):c.4321-15A>G rs587783946
NM_133433.3(NIPBL):c.4422G>T (p.Arg1474Ser) rs80358358
NM_133433.3(NIPBL):c.4731A>G (p.Glu1577=) rs140021654
NM_133433.3(NIPBL):c.5330T>G (p.Ile1777Ser) rs587783970
NM_133433.3(NIPBL):c.5464G>T (p.Asp1822Tyr) rs587783976
NM_133433.3(NIPBL):c.5944A>C (p.Ile1982Leu) rs370593530
NM_133433.3(NIPBL):c.6037A>C (p.Ser2013Arg) rs587783989
NM_133433.3(NIPBL):c.6067C>A (p.His2023Asn) rs587783990
NM_133433.3(NIPBL):c.6068A>G (p.His2023Arg) rs587783991
NM_133433.3(NIPBL):c.6071C>A (p.Ala2024Glu) rs587783992
NM_133433.3(NIPBL):c.6108+7A>G rs587783995
NM_133433.3(NIPBL):c.611-10T>C rs368836554
NM_133433.3(NIPBL):c.6182C>T (p.Pro2061Leu) rs587783999
NM_133433.3(NIPBL):c.6343+5G>A rs80358383
NM_133433.3(NIPBL):c.6568A>G (p.Thr2190Ala) rs587784014
NM_133433.3(NIPBL):c.6589+9A>T rs370709104
NM_133433.3(NIPBL):c.6646T>C (p.Tyr2216His) rs587784020
NM_133433.3(NIPBL):c.678G>A (p.Pro226=) rs192822119
NM_133433.3(NIPBL):c.6993A>G (p.Glu2331=) rs587784028
NM_133433.3(NIPBL):c.7024C>T (p.Leu2342Phe) rs587784031
NM_133433.3(NIPBL):c.7348_7350del (p.Met2450del) rs587784041
NM_133433.3(NIPBL):c.7542_7547del (p.Asp2514_Ser2515del) rs587784044
NM_133433.3(NIPBL):c.7625G>A (p.Gly2542Asp) rs587784045
NM_133433.3(NIPBL):c.7641C>T (p.Leu2547=) rs587784046
NM_133433.3(NIPBL):c.8336C>T (p.Thr2779Met) rs587784057
NM_133433.3(NIPBL):c.894A>G (p.Gln298=) rs587784064

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