ClinVar Miner

List of variants studied for Cornelia de Lange syndrome 3 by Invitae

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 230
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005445.4(SMC3):c.3039A>G (p.Ser1013=) rs2419565 0.98861
NM_005445.4(SMC3):c.970-8G>A rs11195199 0.11151
NM_005445.4(SMC3):c.1092-18T>C rs11195200 0.11131
NM_005445.4(SMC3):c.351-9T>C rs78663177 0.06159
NM_005445.4(SMC3):c.1365T>C (p.Tyr455=) rs75323904 0.06157
NM_005445.4(SMC3):c.1092-8T>G rs79912955 0.00975
NM_005445.4(SMC3):c.2007T>C (p.Tyr669=) rs147404470 0.00501
NM_005445.4(SMC3):c.1680T>C (p.Tyr560=) rs75817442 0.00402
NM_005445.4(SMC3):c.2644+6T>A rs201281088 0.00359
NM_005445.4(SMC3):c.92-19A>G rs140102981 0.00310
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.1671-6A>G rs200848781 0.00124
NM_005445.4(SMC3):c.276T>C (p.Asp92=) rs199936534 0.00073
NM_005445.4(SMC3):c.3495T>A (p.Ala1165=) rs142395521 0.00064
NM_005445.4(SMC3):c.1280A>G (p.Lys427Arg) rs142524280 0.00057
NM_005445.4(SMC3):c.2535+18T>G rs370144623 0.00051
NM_005445.4(SMC3):c.2535+15T>G rs3818903 0.00040
NM_005445.4(SMC3):c.3259G>A (p.Val1087Ile) rs147743879 0.00032
NM_005445.4(SMC3):c.2796A>G (p.Leu932=) rs199966664 0.00019
NM_005445.4(SMC3):c.837A>G (p.Thr279=) rs151335692 0.00018
NM_005445.4(SMC3):c.2062G>C (p.Glu688Gln) rs201162818 0.00013
NM_005445.4(SMC3):c.1416G>A (p.Leu472=) rs753327472 0.00011
NM_005445.4(SMC3):c.2782C>A (p.Arg928=) rs202034783 0.00011
NM_005445.4(SMC3):c.1581T>C (p.His527=) rs182445355 0.00009
NM_005445.4(SMC3):c.810C>T (p.Ile270=) rs148729748 0.00009
NM_005445.4(SMC3):c.970-14T>C rs200511874 0.00009
NM_005445.4(SMC3):c.2493T>C (p.Tyr831=) rs112525060 0.00007
NM_005445.4(SMC3):c.1670+6_1670+7insAAC rs766155607 0.00006
NM_005445.4(SMC3):c.2427+10C>G rs759235379 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.1410-20G>A rs772063912 0.00003
NM_005445.4(SMC3):c.1241C>T (p.Ala414Val) rs555886077 0.00002
NM_005445.4(SMC3):c.1670+7G>A rs762555190 0.00002
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.1671-4T>C rs201392611 0.00001
NM_005445.4(SMC3):c.2163C>T (p.Ile721=) rs1193209124 0.00001
NM_005445.4(SMC3):c.2352T>C (p.Asp784=) rs768545555 0.00001
NM_005445.4(SMC3):c.2498A>G (p.Asn833Ser) rs777828072 0.00001
NM_005445.4(SMC3):c.3228G>A (p.Glu1076=) rs768560730 0.00001
NM_005445.4(SMC3):c.3339A>G (p.Gln1113=) rs189703529 0.00001
NM_005445.4(SMC3):c.3363C>T (p.Ser1121=) rs1332828083 0.00001
NM_005445.4(SMC3):c.372C>T (p.Leu124=) rs972620847 0.00001
NM_005445.4(SMC3):c.621G>A (p.Lys207=) rs1412736656 0.00001
NM_005445.4(SMC3):c.959G>C (p.Ser320Thr) rs755859881 0.00001
NC_000010.10:g.(?_111860412)_(112839579_?)dup
NM_005445.4(SMC3):c.1032G>C (p.Leu344=)
NM_005445.4(SMC3):c.1037A>G (p.Glu346Gly)
NM_005445.4(SMC3):c.1050A>G (p.Lys350=)
NM_005445.4(SMC3):c.1091+17C>T
NM_005445.4(SMC3):c.1091+19A>G
NM_005445.4(SMC3):c.1101A>G (p.Gln367=)
NM_005445.4(SMC3):c.1113A>G (p.Glu371=)
NM_005445.4(SMC3):c.1119G>A (p.Thr373=)
NM_005445.4(SMC3):c.1127A>C (p.Tyr376Ser)
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+17G>T
NM_005445.4(SMC3):c.131-20A>G
NM_005445.4(SMC3):c.131-3C>T
NM_005445.4(SMC3):c.1338T>C (p.Ala446=)
NM_005445.4(SMC3):c.1393C>T (p.Leu465=)
NM_005445.4(SMC3):c.1407A>G (p.Arg469=)
NM_005445.4(SMC3):c.1409+19G>A
NM_005445.4(SMC3):c.1409+20_1409+21del
NM_005445.4(SMC3):c.1409+8T>C
NM_005445.4(SMC3):c.1410-11_1410-6del
NM_005445.4(SMC3):c.1410-6_1410-3del rs546049291
NM_005445.4(SMC3):c.1417T>C (p.Trp473Arg) rs1861180567
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+11C>T
NM_005445.4(SMC3):c.15+12G>A
NM_005445.4(SMC3):c.15+5_15+12del
NM_005445.4(SMC3):c.15+8C>G
NM_005445.4(SMC3):c.1505G>A (p.Gly502Glu)
NM_005445.4(SMC3):c.1509+16del
NM_005445.4(SMC3):c.1509+4G>C
NM_005445.4(SMC3):c.1509+5G>C
NM_005445.4(SMC3):c.1510-7C>A
NM_005445.4(SMC3):c.1538A>G (p.Asn513Ser)
NM_005445.4(SMC3):c.1575C>T (p.Asn525=)
NM_005445.4(SMC3):c.1584T>C (p.Val528=)
NM_005445.4(SMC3):c.16-16G>A
NM_005445.4(SMC3):c.1644A>G (p.Thr548=)
NM_005445.4(SMC3):c.1670+20A>G
NM_005445.4(SMC3):c.1670+6del
NM_005445.4(SMC3):c.1772A>C (p.Asn591Thr)
NM_005445.4(SMC3):c.1783G>A (p.Val595Ile)
NM_005445.4(SMC3):c.1797C>A (p.Ala599=)
NM_005445.4(SMC3):c.1799A>G (p.Tyr600Cys) rs780811321
NM_005445.4(SMC3):c.1803T>C (p.Pro601=)
NM_005445.4(SMC3):c.1812+16A>T
NM_005445.4(SMC3):c.1813-19G>A
NM_005445.4(SMC3):c.181C>T (p.Arg61Trp) rs866273473
NM_005445.4(SMC3):c.1890T>A (p.Thr630=) rs79046607
NM_005445.4(SMC3):c.1892T>C (p.Leu631Pro)
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.1963+16T>C
NM_005445.4(SMC3):c.1964-13G>A
NM_005445.4(SMC3):c.1964-15_1964-14del
NM_005445.4(SMC3):c.1964-17A>G
NM_005445.4(SMC3):c.198+3G>A rs533706811
NM_005445.4(SMC3):c.199-15T>G
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.2116+10T>A
NM_005445.4(SMC3):c.2117-15C>T
NM_005445.4(SMC3):c.2213A>C (p.Glu738Ala) rs2134747764
NM_005445.4(SMC3):c.2226A>G (p.Leu742=)
NM_005445.4(SMC3):c.2268+5G>C
NM_005445.4(SMC3):c.2273G>A (p.Arg758His)
NM_005445.4(SMC3):c.2347A>C (p.Thr783Pro)
NM_005445.4(SMC3):c.2428-6T>A
NM_005445.4(SMC3):c.2530G>T (p.Glu844Ter)
NM_005445.4(SMC3):c.2535+11G>T
NM_005445.4(SMC3):c.2535+13T>G
NM_005445.4(SMC3):c.2535+15_2535+16insG
NM_005445.4(SMC3):c.2535+9G>T
NM_005445.4(SMC3):c.2558C>G (p.Thr853Arg)
NM_005445.4(SMC3):c.2590T>C (p.Ser864Pro)
NM_005445.4(SMC3):c.263G>A (p.Arg88Gln)
NM_005445.4(SMC3):c.2645-13C>T
NM_005445.4(SMC3):c.2645-17G>T
NM_005445.4(SMC3):c.2645-8del
NM_005445.4(SMC3):c.264G>T (p.Arg88=)
NM_005445.4(SMC3):c.2651A>G (p.Asp884Gly)
NM_005445.4(SMC3):c.2658C>T (p.Ser886=) rs2134752535
NM_005445.4(SMC3):c.2670A>G (p.Thr890=)
NM_005445.4(SMC3):c.2688G>A (p.Glu896=)
NM_005445.4(SMC3):c.270+17_270+18del
NM_005445.4(SMC3):c.270+18del
NM_005445.4(SMC3):c.270+18dup rs756099489
NM_005445.4(SMC3):c.2707C>T (p.Arg903Cys)
NM_005445.4(SMC3):c.271-12A>G
NM_005445.4(SMC3):c.271-6T>G
NM_005445.4(SMC3):c.2733T>C (p.His911=)
NM_005445.4(SMC3):c.2739T>G (p.Asp913Glu)
NM_005445.4(SMC3):c.273C>T (p.Ile91=)
NM_005445.4(SMC3):c.2802G>A (p.Lys934=)
NM_005445.4(SMC3):c.2835A>G (p.Glu945=)
NM_005445.4(SMC3):c.2892+3T>A
NM_005445.4(SMC3):c.2893-15A>G
NM_005445.4(SMC3):c.2893-17A>G
NM_005445.4(SMC3):c.2899C>T (p.Arg967Ter)
NM_005445.4(SMC3):c.2943T>C (p.His981=)
NM_005445.4(SMC3):c.2982C>G (p.Ser994=)
NM_005445.4(SMC3):c.3072G>T (p.Arg1024=)
NM_005445.4(SMC3):c.309T>C (p.Gly103=)
NM_005445.4(SMC3):c.3105+15G>A
NM_005445.4(SMC3):c.3105+3A>T
NM_005445.4(SMC3):c.3106-10T>C
NM_005445.4(SMC3):c.3106-8_3106-4del
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.3252A>G (p.Gln1084=)
NM_005445.4(SMC3):c.3263C>G (p.Pro1088Arg)
NM_005445.4(SMC3):c.3298-17_3298-13del
NM_005445.4(SMC3):c.3298-3dup rs750133429
NM_005445.4(SMC3):c.33T>C (p.Phe11=)
NM_005445.4(SMC3):c.3400T>C (p.Cys1134Arg) rs1554884207
NM_005445.4(SMC3):c.3408G>A (p.Pro1136=)
NM_005445.4(SMC3):c.3411T>A (p.Ala1137=)
NM_005445.4(SMC3):c.3411T>C (p.Ala1137=)
NM_005445.4(SMC3):c.3475+12G>A
NM_005445.4(SMC3):c.3476-18A>G
NM_005445.4(SMC3):c.3488A>G (p.Glu1163Gly) rs1861413861
NM_005445.4(SMC3):c.350+12T>C
NM_005445.4(SMC3):c.350+19T>C
NM_005445.4(SMC3):c.350+21del
NM_005445.4(SMC3):c.350+21dup
NM_005445.4(SMC3):c.351-13T>C
NM_005445.4(SMC3):c.351-4A>G
NM_005445.4(SMC3):c.3520A>G (p.Thr1174Ala)
NM_005445.4(SMC3):c.3528G>A (p.Arg1176=)
NM_005445.4(SMC3):c.3530C>G (p.Pro1177Arg)
NM_005445.4(SMC3):c.3534A>G (p.Glu1178=)
NM_005445.4(SMC3):c.3549T>C (p.Ala1183=)
NM_005445.4(SMC3):c.3582+18T>C
NM_005445.4(SMC3):c.3582+19_3582+24del rs758854216
NM_005445.4(SMC3):c.3583-19T>C
NM_005445.4(SMC3):c.3600G>T (p.Val1200=)
NM_005445.4(SMC3):c.363G>A (p.Val121=)
NM_005445.4(SMC3):c.381C>T (p.Ser127=)
NM_005445.4(SMC3):c.384T>C (p.Ala128=)
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+19C>A
NM_005445.4(SMC3):c.429+19C>T
NM_005445.4(SMC3):c.429+9A>G
NM_005445.4(SMC3):c.430-18T>A
NM_005445.4(SMC3):c.430-19A>T
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.548-5_548-4dup rs199906378
NM_005445.4(SMC3):c.548-8C>A
NM_005445.4(SMC3):c.548-8C>G
NM_005445.4(SMC3):c.577T>C (p.Leu193=)
NM_005445.4(SMC3):c.588T>C (p.Ile196=)
NM_005445.4(SMC3):c.624A>C (p.Glu208Asp)
NM_005445.4(SMC3):c.661C>T (p.Arg221Ter) rs1564789897
NM_005445.4(SMC3):c.69C>T (p.Phe23=)
NM_005445.4(SMC3):c.723+20C>T
NM_005445.4(SMC3):c.723+6A>G
NM_005445.4(SMC3):c.724-15T>G
NM_005445.4(SMC3):c.724-6dup rs11380915
NM_005445.4(SMC3):c.786T>A (p.Asp262Glu)
NM_005445.4(SMC3):c.804+14C>T
NM_005445.4(SMC3):c.8T>G (p.Ile3Arg)
NM_005445.4(SMC3):c.909T>G (p.Thr303=)
NM_005445.4(SMC3):c.913T>G (p.Leu305Val)
NM_005445.4(SMC3):c.92-18del
NM_005445.4(SMC3):c.945A>G (p.Glu315=)
NM_005445.4(SMC3):c.969+14C>T
NM_005445.4(SMC3):c.969+16A>G rs2134726700
NM_005445.4(SMC3):c.969+17A>G
NM_005445.4(SMC3):c.970-4A>G
NM_005445.4(SMC3):c.993G>C (p.Gln331His)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.