ClinVar Miner

List of variants in gene SMC3 reported as likely benign for Cornelia de Lange syndrome 3

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 139
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005445.4(SMC3):c.2007T>C (p.Tyr669=) rs147404470 0.00501
NM_005445.4(SMC3):c.2644+6T>A rs201281088 0.00359
NM_005445.4(SMC3):c.1671-6A>G rs200848781 0.00124
NM_005445.4(SMC3):c.-74C>A rs376252081 0.00122
NM_005445.4(SMC3):c.276T>C (p.Asp92=) rs199936534 0.00073
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.*17A>G rs199611616 0.00032
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.1416G>A (p.Leu472=) rs753327472 0.00011
NM_005445.4(SMC3):c.2782C>A (p.Arg928=) rs202034783 0.00011
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.2656T>G (p.Ser886Ala) rs775665831 0.00002
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.3228G>A (p.Glu1076=) rs768560730 0.00001
NM_005445.4(SMC3):c.3321T>C (p.Gly1107=) rs184870066 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
NM_005445.4(SMC3):c.1032G>C (p.Leu344=)
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.130+17G>T
NM_005445.4(SMC3):c.131-20A>G
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.1410-6_1410-3del rs546049291
NM_005445.4(SMC3):c.15+11C>T
NM_005445.4(SMC3):c.15+12G>A
NM_005445.4(SMC3):c.15+8C>G
NM_005445.4(SMC3):c.1510-7C>A
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.1797C>A (p.Ala599=)
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.1890T>A (p.Thr630=) rs79046607
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.2056GAA[2] (p.Glu688del) rs755507236
NM_005445.4(SMC3):c.2116+10T>A
NM_005445.4(SMC3):c.2117-15C>T
NM_005445.4(SMC3):c.2215A>G (p.Met739Val) rs1590567950
NM_005445.4(SMC3):c.2226A>G (p.Leu742=)
NM_005445.4(SMC3):c.2268+13A>G rs755422141
NM_005445.4(SMC3):c.2428-6T>A
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.2645-13C>T
NM_005445.4(SMC3):c.2645-17G>T
NM_005445.4(SMC3):c.264G>T (p.Arg88=)
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.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.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.2893-15A>G
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.3106-10T>C
NM_005445.4(SMC3):c.3106-8_3106-4del
NM_005445.4(SMC3):c.3252A>G (p.Gln1084=)
NM_005445.4(SMC3):c.33T>C (p.Phe11=)
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.350+12T>C
NM_005445.4(SMC3):c.350+19T>C
NM_005445.4(SMC3):c.351-13T>C
NM_005445.4(SMC3):c.3528G>A (p.Arg1176=)
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.429+19C>A
NM_005445.4(SMC3):c.429+19C>T
NM_005445.4(SMC3):c.430-18T>A
NM_005445.4(SMC3):c.430-19A>T
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.69C>T (p.Phe23=)
NM_005445.4(SMC3):c.723+20C>T
NM_005445.4(SMC3):c.724-15T>G
NM_005445.4(SMC3):c.804+14C>T
NM_005445.4(SMC3):c.909T>G (p.Thr303=)
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

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.