ClinVar Miner

List of variants reported as uncertain significance for Cornelia de Lange syndrome 3 by Invitae

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Total variants: 64
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HGVS dbSNP gnomAD frequency
NM_005445.4(SMC3):c.3259G>A (p.Val1087Ile) rs147743879 0.00032
NM_005445.4(SMC3):c.2062G>C (p.Glu688Gln) rs201162818 0.00013
NM_005445.4(SMC3):c.2427+6T>C rs779451107 0.00002
NM_005445.4(SMC3):c.3106-18A>G rs372748192 0.00002
NM_005445.4(SMC3):c.2498A>G (p.Asn833Ser) rs777828072 0.00001
NC_000010.10:g.(?_111860412)_(112839579_?)dup
NM_005445.4(SMC3):c.1037A>G (p.Glu346Gly)
NM_005445.4(SMC3):c.1229A>G (p.Lys410Arg)
NM_005445.4(SMC3):c.125T>C (p.Phe42Ser) rs1554881901
NM_005445.4(SMC3):c.131-3C>T
NM_005445.4(SMC3):c.1410-11_1410-6del
NM_005445.4(SMC3):c.1445C>A (p.Ala482Glu)
NM_005445.4(SMC3):c.1451C>G (p.Ala484Gly) rs758758728
NM_005445.4(SMC3):c.1480_1481dup (p.Gln494fs)
NM_005445.4(SMC3):c.15+5_15+12del
NM_005445.4(SMC3):c.1505G>A (p.Gly502Glu)
NM_005445.4(SMC3):c.1509+4G>C
NM_005445.4(SMC3):c.1509+5G>C
NM_005445.4(SMC3):c.1538A>G (p.Asn513Ser)
NM_005445.4(SMC3):c.1772A>C (p.Asn591Thr)
NM_005445.4(SMC3):c.1783G>A (p.Val595Ile)
NM_005445.4(SMC3):c.1799A>G (p.Tyr600Cys) rs780811321
NM_005445.4(SMC3):c.181C>T (p.Arg61Trp) rs866273473
NM_005445.4(SMC3):c.2024G>A (p.Arg675Gln) rs2134745310
NM_005445.4(SMC3):c.2056GAA[2] (p.Glu688del) rs755507236
NM_005445.4(SMC3):c.2099T>C (p.Leu700Pro) rs2134745404
NM_005445.4(SMC3):c.2102G>A (p.Arg701His)
NM_005445.4(SMC3):c.2213A>C (p.Glu738Ala) rs2134747764
NM_005445.4(SMC3):c.2268+5G>C
NM_005445.4(SMC3):c.2273G>A (p.Arg758His)
NM_005445.4(SMC3):c.2530G>T (p.Glu844Ter)
NM_005445.4(SMC3):c.2558C>G (p.Thr853Arg)
NM_005445.4(SMC3):c.263G>A (p.Arg88Gln)
NM_005445.4(SMC3):c.2651A>G (p.Asp884Gly)
NM_005445.4(SMC3):c.2707C>T (p.Arg903Cys)
NM_005445.4(SMC3):c.2739T>G (p.Asp913Glu)
NM_005445.4(SMC3):c.2892+3T>A
NM_005445.4(SMC3):c.2899C>T (p.Arg967Ter)
NM_005445.4(SMC3):c.3105+3A>T
NM_005445.4(SMC3):c.3168G>A (p.Val1056=)
NM_005445.4(SMC3):c.3183T>A (p.Asp1061Glu)
NM_005445.4(SMC3):c.3212_3214del (p.Gly1071del)
NM_005445.4(SMC3):c.3231T>A (p.Ser1077Arg)
NM_005445.4(SMC3):c.3263C>G (p.Pro1088Arg)
NM_005445.4(SMC3):c.3298-17_3298-13del
NM_005445.4(SMC3):c.3400T>C (p.Cys1134Arg) rs1554884207
NM_005445.4(SMC3):c.3488A>G (p.Glu1163Gly) rs1861413861
NM_005445.4(SMC3):c.351-4A>G
NM_005445.4(SMC3):c.3520A>G (p.Thr1174Ala)
NM_005445.4(SMC3):c.3530C>G (p.Pro1177Arg)
NM_005445.4(SMC3):c.386G>T (p.Gly129Val)
NM_005445.4(SMC3):c.424G>A (p.Gly142Arg) rs1554882316
NM_005445.4(SMC3):c.429+16G>T
NM_005445.4(SMC3):c.429+9A>G
NM_005445.4(SMC3):c.430-3T>C
NM_005445.4(SMC3):c.538A>C (p.Lys180Gln)
NM_005445.4(SMC3):c.547+6A>G
NM_005445.4(SMC3):c.624A>C (p.Glu208Asp)
NM_005445.4(SMC3):c.661C>T (p.Arg221Ter) rs1564789897
NM_005445.4(SMC3):c.723+6A>G
NM_005445.4(SMC3):c.786T>A (p.Asp262Glu)
NM_005445.4(SMC3):c.8T>G (p.Ile3Arg)
NM_005445.4(SMC3):c.913T>G (p.Leu305Val)
NM_005445.4(SMC3):c.993G>C (p.Gln331His)

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