ClinVar Miner

List of variants in gene SMC3 studied for Cornelia de Lange syndrome 3

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 401
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HGVS dbSNP gnomAD frequency
NM_005445.4(SMC3):c.3039A>G (p.Ser1013=) rs2419565 0.98861
NM_005445.4(SMC3):c.2116+23G>A rs7075340 0.96693
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.*158G>A rs183542538 0.01009
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.*332A>G rs117538515 0.00334
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.*297T>A rs188322637 0.00157
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.*329C>T rs182524436 0.00123
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.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.*304T>G rs755315364 0.00035
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.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.-115T>C rs886046691 0.00006
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.198+7G>A rs765985488 0.00003
NM_005445.4(SMC3):c.2589A>G (p.Thr863=) rs768482776 0.00003
NM_005445.4(SMC3):c.2982C>T (p.Ser994=) rs201308737 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.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.2656T>G (p.Ser886Ala) rs775665831 0.00002
NM_005445.4(SMC3):c.3106-18A>G rs372748192 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.1437A>G (p.Glu479=) rs1162668271 0.00001
NM_005445.4(SMC3):c.1580A>G (p.His527Arg) rs756254563 0.00001
NM_005445.4(SMC3):c.1671-4T>C rs201392611 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.2352T>C (p.Asp784=) rs768545555 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
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.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
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.-92G>T rs558632292
NM_005445.4(SMC3):c.-99C>A rs148267784
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.1071_1074del (p.Glu358fs) rs1590556722
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.1127A>G (p.Tyr376Cys)
NM_005445.4(SMC3):c.1138_1152del (p.Gly380_Gln384del) rs1861074646
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.130+17G>T
NM_005445.4(SMC3):c.1305+14T>C
NM_005445.4(SMC3):c.131-20A>G
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.1338T>C (p.Ala446=)
NM_005445.4(SMC3):c.1343dup (p.Glu449fs) rs2134735614
NM_005445.4(SMC3):c.1374A>G (p.Val458=)
NM_005445.4(SMC3):c.1393C>T (p.Leu465=)
NM_005445.4(SMC3):c.139T>C (p.Phe47Leu) rs863225258
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.1417T>G (p.Trp473Gly) rs1861180567
NM_005445.4(SMC3):c.1440G>A (p.Gln480=)
NM_005445.4(SMC3):c.1445C>A (p.Ala482Glu)
NM_005445.4(SMC3):c.1450GCT[1] (p.Ala485del) rs1564792181
NM_005445.4(SMC3):c.1451C>G (p.Ala484Gly) rs758758728
NM_005445.4(SMC3):c.1461AGA[1] (p.Glu488del) rs863223279
NM_005445.4(SMC3):c.1462G>A (p.Glu488Lys) rs863225260
NM_005445.4(SMC3):c.1480_1481dup (p.Gln494fs)
NM_005445.4(SMC3):c.1480del (p.Gln494fs)
NM_005445.4(SMC3):c.15+11C>T
NM_005445.4(SMC3):c.15+12G>A
NM_005445.4(SMC3):c.15+14G>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+16T>C
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.1510-4A>G
NM_005445.4(SMC3):c.1510-7C>A
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.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.1638C>T (p.Phe546=) rs746801454
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.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.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.1830C>T (p.Ile610=)
NM_005445.4(SMC3):c.1861A>T (p.Lys621Ter)
NM_005445.4(SMC3):c.1872A>G (p.Lys624=)
NM_005445.4(SMC3):c.1890T>A (p.Thr630=) rs79046607
NM_005445.4(SMC3):c.1892T>C (p.Leu631Pro)
NM_005445.4(SMC3):c.1900C>T (p.Arg634Cys)
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+15T>C
NM_005445.4(SMC3):c.1963+16T>C
NM_005445.4(SMC3):c.1963+8A>G
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.1964-20T>C
NM_005445.4(SMC3):c.1964G>A (p.Gly655Asp) rs587784425
NM_005445.4(SMC3):c.198+3G>A rs533706811
NM_005445.4(SMC3):c.199-14T>A
NM_005445.4(SMC3):c.199-15T>G
NM_005445.4(SMC3):c.1997G>C (p.Gly666Ala) rs863225261
NM_005445.4(SMC3):c.2005T>G (p.Tyr669Asp) rs776056911
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.2044G>A (p.Val682Ile) rs2134745322
NM_005445.4(SMC3):c.2056GAA[2] (p.Glu688del) rs755507236
NM_005445.4(SMC3):c.2065C>T (p.Leu689=)
NM_005445.4(SMC3):c.2076T>G (p.Leu692=)
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.2111T>C (p.Ile704Thr) rs1564794233
NM_005445.4(SMC3):c.2116+10T>A
NM_005445.4(SMC3):c.2116+20A>C
NM_005445.4(SMC3):c.2116+20A>G
NM_005445.4(SMC3):c.2117-15C>T
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.2215A>G (p.Met739Val) rs1590567950
NM_005445.4(SMC3):c.2226A>G (p.Leu742=)
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+11A>G
NM_005445.4(SMC3):c.2268+13A>G rs755422141
NM_005445.4(SMC3):c.2268+5G>C
NM_005445.4(SMC3):c.2269-14A>T
NM_005445.4(SMC3):c.2273G>A (p.Arg758His)
NM_005445.4(SMC3):c.2289G>A (p.Leu763=)
NM_005445.4(SMC3):c.2338G>C (p.Glu780Gln) rs587784427
NM_005445.4(SMC3):c.2347A>C (p.Thr783Pro)
NM_005445.4(SMC3):c.2399T>C (p.Leu800Pro)
NM_005445.4(SMC3):c.2406T>C (p.Asp802=) rs934660926
NM_005445.4(SMC3):c.2427+13C>T rs190798929
NM_005445.4(SMC3):c.2428-6T>A
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.2495T>C (p.Leu832Pro) rs1861369323
NM_005445.4(SMC3):c.2513A>C (p.Lys838Thr) rs2134750930
NM_005445.4(SMC3):c.2530G>T (p.Glu844Ter)
NM_005445.4(SMC3):c.2535+11G>T
NM_005445.4(SMC3):c.2535+11_2535+13del
NM_005445.4(SMC3):c.2535+13T>G
NM_005445.4(SMC3):c.2535+14T>G
NM_005445.4(SMC3):c.2535+15_2535+16insG
NM_005445.4(SMC3):c.2535+17T>G
NM_005445.4(SMC3):c.2535+19T>G
NM_005445.4(SMC3):c.2535+1G>A
NM_005445.4(SMC3):c.2535+7A>G
NM_005445.4(SMC3):c.2535+9G>T
NM_005445.4(SMC3):c.2558C>G (p.Thr853Arg)
NM_005445.4(SMC3):c.255A>T (p.Ser85=) rs146433240
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.2590T>C (p.Ser864Pro)
NM_005445.4(SMC3):c.2636G>C (p.Arg879Pro) rs797045996
NM_005445.4(SMC3):c.263G>A (p.Arg88Gln)
NM_005445.4(SMC3):c.2644+19A>C
NM_005445.4(SMC3):c.2645-13C>T
NM_005445.4(SMC3):c.2645-17G>T
NM_005445.4(SMC3):c.2645-5C>G
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.2653A>C (p.Asn885His)
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.2708G>T (p.Arg903Leu)
NM_005445.4(SMC3):c.271-12A>G
NM_005445.4(SMC3):c.271-6T>G
NM_005445.4(SMC3):c.2710T>C (p.Trp904Arg) rs112281749
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.2750A>C (p.His917Pro) rs797044861
NM_005445.4(SMC3):c.2782C>T (p.Arg928Trp)
NM_005445.4(SMC3):c.2783G>A (p.Arg928Gln) rs2134752688
NM_005445.4(SMC3):c.2797T>C (p.Leu933=)
NM_005445.4(SMC3):c.2802G>A (p.Lys934=)
NM_005445.4(SMC3):c.2835A>G (p.Glu945=)
NM_005445.4(SMC3):c.283G>A (p.Glu95Lys) rs869312672
NM_005445.4(SMC3):c.285A>G (p.Glu95=)
NM_005445.4(SMC3):c.2886C>T (p.Leu962=)
NM_005445.4(SMC3):c.2892+3T>A
NM_005445.4(SMC3):c.2892+9T>C rs1861393233
NM_005445.4(SMC3):c.2893-12T>G
NM_005445.4(SMC3):c.2893-15A>G
NM_005445.4(SMC3):c.2893-16del
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.2950A>C (p.Lys984Gln)
NM_005445.4(SMC3):c.2952_2954del (p.Lys985del) rs1590571077
NM_005445.4(SMC3):c.2964T>C (p.Asp988=) rs111611128
NM_005445.4(SMC3):c.2982C>G (p.Ser994=)
NM_005445.4(SMC3):c.3007C>T (p.Arg1003Cys) rs1861395935
NM_005445.4(SMC3):c.3035A>G (p.Lys1012Arg)
NM_005445.4(SMC3):c.3072G>T (p.Arg1024=)
NM_005445.4(SMC3):c.3076T>C (p.Tyr1026His)
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.3106-17T>A
NM_005445.4(SMC3):c.3106-8_3106-4del
NM_005445.4(SMC3):c.310G>T (p.Ala104Ser)
NM_005445.4(SMC3):c.3112A>G (p.Lys1038Glu)
NM_005445.4(SMC3):c.3135G>A (p.Gln1045=)
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.3252A>G (p.Gln1084=)
NM_005445.4(SMC3):c.3254G>C (p.Ser1085Thr)
NM_005445.4(SMC3):c.3263C>G (p.Pro1088Arg)
NM_005445.4(SMC3):c.3297+18T>G
NM_005445.4(SMC3):c.3297+20C>T
NM_005445.4(SMC3):c.3298-10T>A
NM_005445.4(SMC3):c.3298-17_3298-13del
NM_005445.4(SMC3):c.3298-3dup rs750133429
NM_005445.4(SMC3):c.333A>G (p.Leu111=)
NM_005445.4(SMC3):c.3362C>T (p.Ser1121Phe) rs1564796294
NM_005445.4(SMC3):c.3364T>C (p.Leu1122=)
NM_005445.4(SMC3):c.3373C>G (p.Leu1125Val) rs901512521
NM_005445.4(SMC3):c.3376G>T (p.Ala1126Ser)
NM_005445.4(SMC3):c.33T>C (p.Phe11=)
NM_005445.4(SMC3):c.3400T>C (p.Cys1134Arg) rs1554884207
NM_005445.4(SMC3):c.3407C>T (p.Pro1136Leu)
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.3442G>T (p.Ala1148Ser) rs2134754195
NM_005445.4(SMC3):c.3454C>T (p.Gln1152Ter)
NM_005445.4(SMC3):c.3469G>C (p.Val1157Leu)
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.350C>T (p.Thr117Met)
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.3625_3630dup (p.Val1210_Glu1211insPheVal)
NM_005445.4(SMC3):c.363G>A (p.Val121=)
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.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+11T>C
NM_005445.4(SMC3):c.429+16G>T
NM_005445.4(SMC3):c.429+18C>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.430-1G>T
NM_005445.4(SMC3):c.430-3T>C
NM_005445.4(SMC3):c.430-3del
NM_005445.4(SMC3):c.435C>A (p.Asn145Lys)
NM_005445.4(SMC3):c.440T>C (p.Met147Thr)
NM_005445.4(SMC3):c.463A>G (p.Arg155Gly)
NM_005445.4(SMC3):c.538A>C (p.Lys180Gln)
NM_005445.4(SMC3):c.547+6A>G
NM_005445.4(SMC3):c.547+8_547+11del
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.573G>A (p.Glu191=)
NM_005445.4(SMC3):c.577T>C (p.Leu193=)
NM_005445.4(SMC3):c.582A>G (p.Lys194=)
NM_005445.4(SMC3):c.587T>C (p.Ile196Thr) rs797045070
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.662G>A (p.Arg221Gln) rs1861038686
NM_005445.4(SMC3):c.69C>T (p.Phe23=)
NM_005445.4(SMC3):c.703_705del (p.Thr235del) rs863225259
NM_005445.4(SMC3):c.707G>A (p.Arg236His)
NM_005445.4(SMC3):c.707G>C (p.Arg236Pro) rs587784429
NM_005445.4(SMC3):c.723+20C>T
NM_005445.4(SMC3):c.723+4A>T rs886046693
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.7A>G (p.Ile3Val) rs1860796091
NM_005445.4(SMC3):c.804+14C>T
NM_005445.4(SMC3):c.856GAA[3] (p.Glu287dup) rs797045997
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.915G>A (p.Leu305=)
NM_005445.4(SMC3):c.92-18del
NM_005445.4(SMC3):c.929A>G (p.Lys310Arg) rs1861062802
NM_005445.4(SMC3):c.932A>G (p.Asp311Gly) rs1590556378
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)

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