ClinVar Miner

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

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Total variants: 142
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HGVS dbSNP gnomAD frequency
NM_005445.4(SMC3):c.1680T>C (p.Tyr560=) rs75817442 0.00402
NM_005445.4(SMC3):c.255A>G (p.Ser85=) rs146433240 0.00287
NM_005445.4(SMC3):c.2934G>A (p.Lys978=) rs147463420 0.00135
NM_005445.4(SMC3):c.2329T>C (p.Leu777=) rs76625999 0.00132
NM_005445.4(SMC3):c.1280A>G (p.Lys427Arg) rs142524280 0.00057
NM_005445.4(SMC3):c.2535+15T>G rs3818903 0.00040
NM_005445.4(SMC3):c.*304T>G rs755315364 0.00035
NM_005445.4(SMC3):c.2062G>C (p.Glu688Gln) rs201162818 0.00013
NM_005445.4(SMC3):c.1581T>C (p.His527=) rs182445355 0.00009
NM_005445.4(SMC3):c.2493T>C (p.Tyr831=) rs112525060 0.00007
NM_005445.4(SMC3):c.-115T>C rs886046691 0.00006
NM_005445.4(SMC3):c.2268+4C>T rs587784426 0.00004
NM_005445.4(SMC3):c.507C>T (p.Asp169=) rs370909218 0.00004
NM_005445.4(SMC3):c.2589A>G (p.Thr863=) rs768482776 0.00003
NM_005445.4(SMC3):c.3101A>G (p.Lys1034Arg) rs1278347837 0.00003
NM_005445.4(SMC3):c.*327G>C rs1030439322 0.00002
NM_005445.4(SMC3):c.-65T>A rs886046692 0.00002
NM_005445.4(SMC3):c.2427+6T>C rs779451107 0.00002
NM_005445.4(SMC3):c.369C>T (p.Asn123=) rs779773957 0.00002
NM_005445.4(SMC3):c.*228C>T rs1486030712 0.00001
NM_005445.4(SMC3):c.-90G>A rs1333533101 0.00001
NM_005445.4(SMC3):c.1580A>G (p.His527Arg) rs756254563 0.00001
NM_005445.4(SMC3):c.1998G>C (p.Gly666=) rs142669130 0.00001
NM_005445.4(SMC3):c.2163C>T (p.Ile721=) rs1193209124 0.00001
NM_005445.4(SMC3):c.2299T>C (p.Leu767=) rs139763232 0.00001
NM_005445.4(SMC3):c.2498A>G (p.Asn833Ser) rs777828072 0.00001
NM_005445.4(SMC3):c.2645-8C>T rs886046695 0.00001
NC_000010.10:g.(?_111860412)_(112839579_?)dup
NM_005445.3(SMC3):c.-136A>G rs994198170
NM_005445.4(SMC3):c.*12T>A rs1861435243
NM_005445.4(SMC3):c.*36A>G rs1861435668
NM_005445.4(SMC3):c.*50C>G rs368890227
NM_005445.4(SMC3):c.*77C>T rs886046696
NM_005445.4(SMC3):c.1037A>G (p.Glu346Gly)
NM_005445.4(SMC3):c.1170A>C (p.Glu390Asp)
NM_005445.4(SMC3):c.1190dup (p.Glu398fs)
NM_005445.4(SMC3):c.1229A>G (p.Lys410Arg)
NM_005445.4(SMC3):c.125T>C (p.Phe42Ser) rs1554881901
NM_005445.4(SMC3):c.130+11C>G rs1860907572
NM_005445.4(SMC3):c.131-3C>T
NM_005445.4(SMC3):c.1324A>G (p.Asn442Asp)
NM_005445.4(SMC3):c.1330G>A (p.Val444Ile) rs1861177028
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.15+5_15+12del
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.1558C>A (p.Arg520Ser) rs768778247
NM_005445.4(SMC3):c.1558C>T (p.Arg520Cys)
NM_005445.4(SMC3):c.1559G>A (p.Arg520His)
NM_005445.4(SMC3):c.1692T>A (p.Asp564Glu)
NM_005445.4(SMC3):c.1760T>C (p.Phe587Ser)
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.1861A>T (p.Lys621Ter)
NM_005445.4(SMC3):c.1900C>T (p.Arg634Cys)
NM_005445.4(SMC3):c.2018A>G (p.Lys673Arg)
NM_005445.4(SMC3):c.2024G>A (p.Arg675Gln) rs2134745310
NM_005445.4(SMC3):c.2036A>G (p.Gln679Arg)
NM_005445.4(SMC3):c.2056GAA[2] (p.Glu688del) rs755507236
NM_005445.4(SMC3):c.2085G>A (p.Lys695=) rs886046694
NM_005445.4(SMC3):c.2086C>G (p.Leu696Val)
NM_005445.4(SMC3):c.2099T>C (p.Leu700Pro) rs2134745404
NM_005445.4(SMC3):c.2102G>A (p.Arg701His)
NM_005445.4(SMC3):c.2116+20A>G
NM_005445.4(SMC3):c.2132T>C (p.Ile711Thr) rs1590567899
NM_005445.4(SMC3):c.2213A>C (p.Glu738Ala) rs2134747764
NM_005445.4(SMC3):c.2264C>G (p.Pro755Arg)
NM_005445.4(SMC3):c.2264C>T (p.Pro755Leu) rs76568464
NM_005445.4(SMC3):c.2268+5G>C
NM_005445.4(SMC3):c.2273G>A (p.Arg758His)
NM_005445.4(SMC3):c.2289G>A (p.Leu763=)
NM_005445.4(SMC3):c.2406T>C (p.Asp802=) rs934660926
NM_005445.4(SMC3):c.2427+13C>T rs190798929
NM_005445.4(SMC3):c.2464G>T (p.Glu822Ter) rs2134750874
NM_005445.4(SMC3):c.2472T>C (p.Ile824=) rs1861369074
NM_005445.4(SMC3):c.2558C>G (p.Thr853Arg)
NM_005445.4(SMC3):c.2567G>C (p.Gly856Ala)
NM_005445.4(SMC3):c.2569A>G (p.Thr857Ala)
NM_005445.4(SMC3):c.2573T>C (p.Val858Ala)
NM_005445.4(SMC3):c.2636G>C (p.Arg879Pro) rs797045996
NM_005445.4(SMC3):c.263G>A (p.Arg88Gln)
NM_005445.4(SMC3):c.2651A>G (p.Asp884Gly)
NM_005445.4(SMC3):c.2653A>C (p.Asn885His)
NM_005445.4(SMC3):c.2707C>T (p.Arg903Cys)
NM_005445.4(SMC3):c.2708G>T (p.Arg903Leu)
NM_005445.4(SMC3):c.2710T>C (p.Trp904Arg) rs112281749
NM_005445.4(SMC3):c.2739T>G (p.Asp913Glu)
NM_005445.4(SMC3):c.2782C>T (p.Arg928Trp)
NM_005445.4(SMC3):c.2783G>A (p.Arg928Gln) rs2134752688
NM_005445.4(SMC3):c.2892+3T>A
NM_005445.4(SMC3):c.2892+9T>C rs1861393233
NM_005445.4(SMC3):c.2950A>C (p.Lys984Gln)
NM_005445.4(SMC3):c.2964T>C (p.Asp988=) rs111611128
NM_005445.4(SMC3):c.3035A>G (p.Lys1012Arg)
NM_005445.4(SMC3):c.3076T>C (p.Tyr1026His)
NM_005445.4(SMC3):c.3105+3A>T
NM_005445.4(SMC3):c.310G>T (p.Ala104Ser)
NM_005445.4(SMC3):c.3112A>G (p.Lys1038Glu)
NM_005445.4(SMC3):c.3147T>C (p.Pro1049=) rs1861402400
NM_005445.4(SMC3):c.3149G>A (p.Gly1050Asp)
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.3254G>C (p.Ser1085Thr)
NM_005445.4(SMC3):c.3263C>G (p.Pro1088Arg)
NM_005445.4(SMC3):c.3373C>G (p.Leu1125Val) rs901512521
NM_005445.4(SMC3):c.3376G>T (p.Ala1126Ser)
NM_005445.4(SMC3):c.3400T>C (p.Cys1134Arg) rs1554884207
NM_005445.4(SMC3):c.3407C>T (p.Pro1136Leu)
NM_005445.4(SMC3):c.3469G>C (p.Val1157Leu)
NM_005445.4(SMC3):c.3488A>G (p.Glu1163Gly) rs1861413861
NM_005445.4(SMC3):c.350C>T (p.Thr117Met)
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.371T>G (p.Leu124Arg) rs1590553017
NM_005445.4(SMC3):c.377A>G (p.Glu126Gly) rs113411202
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.430-3del
NM_005445.4(SMC3):c.440T>C (p.Met147Thr)
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.662G>A (p.Arg221Gln) rs1861038686
NM_005445.4(SMC3):c.723+4A>T rs886046693
NM_005445.4(SMC3):c.723+6A>G
NM_005445.4(SMC3):c.786T>A (p.Asp262Glu)
NM_005445.4(SMC3):c.7A>G (p.Ile3Val) rs1860796091
NM_005445.4(SMC3):c.8T>G (p.Ile3Arg)
NM_005445.4(SMC3):c.913T>G (p.Leu305Val)
NM_005445.4(SMC3):c.929A>G (p.Lys310Arg) rs1861062802
NM_005445.4(SMC3):c.993G>C (p.Gln331His)

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