ClinVar Miner

List of variants in gene DSC2 reported as likely benign for arrhythmogenic right ventricular cardiomyopathy

Included ClinVar conditions (37):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 461
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HGVS dbSNP gnomAD frequency
NM_024422.6(DSC2):c.*1604A>G rs188072930 0.01130
NM_024422.6(DSC2):c.351A>G (p.Thr117=) rs117812913 0.00832
NM_024422.6(DSC2):c.*1283A>G rs141273986 0.00682
NM_024422.6(DSC2):c.1719C>T (p.Asn573=) rs140167653 0.00590
NM_024422.6(DSC2):c.*46A>T rs77431927 0.00294
NM_024422.6(DSC2):c.*1475G>C rs180728052 0.00248
NM_024422.6(DSC2):c.2616C>T (p.Cys872=) rs61731920 0.00194
NM_024422.6(DSC2):c.2194T>G (p.Leu732Val) rs151024019 0.00138
NM_024422.6(DSC2):c.1073C>T (p.Thr358Ile) rs139399951 0.00104
NM_024422.6(DSC2):c.2636A>G (p.Asp879Gly) rs143342988 0.00079
NM_024422.6(DSC2):c.304G>A (p.Glu102Lys) rs144799937 0.00070
NM_024422.6(DSC2):c.1789G>T (p.Val597Phe) rs143040393 0.00068
NM_024422.6(DSC2):c.172T>G (p.Phe58Val) rs138749562 0.00066
NM_024422.6(DSC2):c.2498G>A (p.Arg833His) rs370325533 0.00061
NM_024422.6(DSC2):c.1787C>T (p.Ala596Val) rs148185335 0.00060
NM_024422.6(DSC2):c.270G>A (p.Glu90=) rs138643506 0.00056
NM_024422.6(DSC2):c.1901G>A (p.Arg634His) rs200475862 0.00052
NM_024422.6(DSC2):c.1775C>T (p.Ala592Val) rs140232809 0.00035
NM_024422.6(DSC2):c.174T>C (p.Phe58=) rs150792047 0.00034
NM_024422.6(DSC2):c.1269G>A (p.Leu423=) rs376049846 0.00032
NM_024422.6(DSC2):c.1559T>C (p.Ile520Thr) rs561310777 0.00029
NM_024422.6(DSC2):c.631-13dup rs551337657 0.00026
NM_024422.6(DSC2):c.1729A>G (p.Ile577Val) rs201845641 0.00025
NM_024422.6(DSC2):c.1520+8C>G rs372979057 0.00024
NM_024422.6(DSC2):c.857G>T (p.Gly286Val) rs199682735 0.00024
NM_024422.6(DSC2):c.2587G>A (p.Gly863Arg) rs147109895 0.00023
NM_024422.6(DSC2):c.854T>C (p.Ile285Thr) rs199918720 0.00022
NM_024422.6(DSC2):c.2546A>C (p.His849Pro) rs184487763 0.00021
NM_024422.6(DSC2):c.348A>G (p.Gln116=) rs137941742 0.00021
NM_024422.6(DSC2):c.907G>A (p.Val303Met) rs145560678 0.00021
NM_024422.6(DSC2):c.135C>T (p.Ala45=) rs749323567 0.00018
NM_024422.6(DSC2):c.2264G>T (p.Gly755Val) rs367990772 0.00018
NM_024422.6(DSC2):c.2471C>T (p.Ser824Leu) rs143413607 0.00016
NM_024422.6(DSC2):c.1521-7C>T rs374810953 0.00015
NM_024422.6(DSC2):c.2226A>G (p.Thr742=) rs142807209 0.00014
NM_024422.6(DSC2):c.1788G>A (p.Ala596=) rs146161960 0.00013
NM_024422.6(DSC2):c.2298G>C (p.Gln766His) rs139558481 0.00013
NM_024422.6(DSC2):c.1070G>A (p.Arg357His) rs201201194 0.00011
NM_024422.6(DSC2):c.630+8C>T rs201147144 0.00011
NM_024422.6(DSC2):c.2314G>A (p.Val772Met) rs146029947 0.00010
NM_024422.6(DSC2):c.2251-5T>G rs374262463 0.00009
NM_024422.6(DSC2):c.951C>T (p.Asp317=) rs749810775 0.00009
NM_024422.6(DSC2):c.136G>A (p.Glu46Lys) rs180908546 0.00008
NM_024422.6(DSC2):c.1591A>C (p.Arg531=) rs727502981 0.00006
NM_024422.6(DSC2):c.1638T>C (p.Asn546=) rs145987522 0.00006
NM_024422.6(DSC2):c.2103G>A (p.Leu701=) rs141726394 0.00006
NM_024422.6(DSC2):c.2126-7C>G rs936641955 0.00006
NM_024422.6(DSC2):c.2139G>A (p.Thr713=) rs112532429 0.00006
NM_024422.6(DSC2):c.2151G>C (p.Gly717=) rs752691135 0.00006
NM_024422.6(DSC2):c.2259G>A (p.Ala753=) rs201086521 0.00006
NM_024422.6(DSC2):c.1176T>C (p.Asn392=) rs769365346 0.00004
NM_024422.6(DSC2):c.1308T>C (p.Gly436=) rs762786487 0.00004
NM_024422.6(DSC2):c.1552G>C (p.Val518Leu) rs397517394 0.00004
NM_024422.6(DSC2):c.160C>T (p.Leu54=) rs149347582 0.00004
NM_024422.6(DSC2):c.1776G>A (p.Ala592=) rs727502980 0.00004
NM_024422.6(DSC2):c.2175A>C (p.Pro725=) rs921649870 0.00004
NM_024422.6(DSC2):c.2202G>A (p.Gln734=) rs775922060 0.00004
NM_024422.6(DSC2):c.2208C>T (p.Asn736=) rs727504534 0.00004
NM_024422.6(DSC2):c.2251-20G>A rs779900062 0.00004
NM_024422.6(DSC2):c.2509-16T>C rs978907622 0.00004
NM_024422.6(DSC2):c.408A>G (p.Arg136=) rs561653481 0.00004
NM_024422.6(DSC2):c.630+15G>A rs201596999 0.00004
NM_024422.6(DSC2):c.669A>G (p.Pro223=) rs923697621 0.00004
NM_024422.6(DSC2):c.70-7T>G rs184341263 0.00004
NM_024422.6(DSC2):c.776-12T>G rs397517403 0.00004
NM_024422.6(DSC2):c.1018A>G (p.Thr340Ala) rs368299411 0.00003
NM_024422.6(DSC2):c.1264-4G>A rs377439942 0.00003
NM_024422.6(DSC2):c.1663+4A>G rs369849387 0.00003
NM_024422.6(DSC2):c.1881A>G (p.Ala627=) rs752023626 0.00003
NM_024422.6(DSC2):c.2157T>C (p.Ser719=) rs985629599 0.00003
NM_024422.6(DSC2):c.2250+12G>T rs201039801 0.00003
NM_024422.6(DSC2):c.2509-9C>T rs773056962 0.00003
NM_024422.6(DSC2):c.2595G>A (p.Val865=) rs765879750 0.00003
NM_024422.6(DSC2):c.630+19G>A rs750910749 0.00003
NM_024422.6(DSC2):c.708A>G (p.Glu236=) rs377279601 0.00003
NM_024422.6(DSC2):c.776-13T>G rs370595433 0.00003
NM_024422.6(DSC2):c.802A>G (p.Thr268Ala) rs201015785 0.00003
NM_024422.6(DSC2):c.870A>G (p.Pro290=) rs142653119 0.00003
NM_024422.6(DSC2):c.943-9T>C rs750684563 0.00003
NM_024422.6(DSC2):c.1263+10A>G rs1462640047 0.00002
NM_024422.6(DSC2):c.1401G>A (p.Glu467=) rs977781359 0.00002
NM_024422.6(DSC2):c.1875G>C (p.Leu625=) rs142594406 0.00002
NM_024422.6(DSC2):c.1986T>G (p.Thr662=) rs757613258 0.00002
NM_024422.6(DSC2):c.2031C>T (p.Cys677=) rs754488475 0.00002
NM_024422.6(DSC2):c.2126-20A>T rs779297158 0.00002
NM_024422.6(DSC2):c.2163G>A (p.Thr721=) rs773220437 0.00002
NM_024422.6(DSC2):c.2442G>A (p.Thr814=) rs750971227 0.00002
NM_024422.6(DSC2):c.2571T>C (p.Tyr857=) rs370144781 0.00002
NM_024422.6(DSC2):c.324A>G (p.Lys108=) rs779651366 0.00002
NM_024422.6(DSC2):c.360A>G (p.Leu120=) rs375772629 0.00002
NM_024422.6(DSC2):c.489G>A (p.Thr163=) rs752952811 0.00002
NM_024422.6(DSC2):c.750T>C (p.Phe250=) rs781667894 0.00002
NM_024422.6(DSC2):c.105G>A (p.Val35=) rs776441487 0.00001
NM_024422.6(DSC2):c.1077+11G>T rs727504868 0.00001
NM_024422.6(DSC2):c.1077+15T>C rs374321855 0.00001
NM_024422.6(DSC2):c.1081G>A (p.Val361Met) rs751810874 0.00001
NM_024422.6(DSC2):c.1110T>C (p.Asp370=) rs1567977994 0.00001
NM_024422.6(DSC2):c.1131T>G (p.Thr377=) rs772815380 0.00001
NM_024422.6(DSC2):c.120C>A (p.Pro40=) rs773259822 0.00001
NM_024422.6(DSC2):c.1230C>T (p.Ala410=) rs778090203 0.00001
NM_024422.6(DSC2):c.1347A>G (p.Pro449=) rs1157738158 0.00001
NM_024422.6(DSC2):c.1410G>A (p.Glu470=) rs551265924 0.00001
NM_024422.6(DSC2):c.144T>G (p.Leu48=) rs1598592489 0.00001
NM_024422.6(DSC2):c.1521-5A>G rs397517392 0.00001
NM_024422.6(DSC2):c.153A>G (p.Arg51=) rs781424888 0.00001
NM_024422.6(DSC2):c.1548G>T (p.Gly516=) rs1465276759 0.00001
NM_024422.6(DSC2):c.1560T>C (p.Ile520=) rs1193943164 0.00001
NM_024422.6(DSC2):c.1596C>T (p.Ser532=) rs1387501743 0.00001
NM_024422.6(DSC2):c.159C>T (p.Asn53=) rs952701114 0.00001
NM_024422.6(DSC2):c.1803G>A (p.Glu601=) rs1288832288 0.00001
NM_024422.6(DSC2):c.1889-10A>G rs1371722130 0.00001
NM_024422.6(DSC2):c.1926A>G (p.Pro642=) rs776278152 0.00001
NM_024422.6(DSC2):c.1971C>A (p.Gly657=) rs397517396 0.00001
NM_024422.6(DSC2):c.1981G>A (p.Val661Ile) rs781419827 0.00001
NM_024422.6(DSC2):c.1990T>C (p.Leu664=) rs747173696 0.00001
NM_024422.6(DSC2):c.2004G>A (p.Leu668=) rs1986839093 0.00001
NM_024422.6(DSC2):c.2073A>G (p.Gln691=) rs776903280 0.00001
NM_024422.6(DSC2):c.2104T>C (p.Leu702=) rs753742489 0.00001
NM_024422.6(DSC2):c.2126-11T>C rs1283105269 0.00001
NM_024422.6(DSC2):c.2244C>T (p.Asp748=) rs886039103 0.00001
NM_024422.6(DSC2):c.2256T>C (p.Ser752=) rs1369056367 0.00001
NM_024422.6(DSC2):c.2313C>T (p.Thr771=) rs778571921 0.00001
NM_024422.6(DSC2):c.2334C>T (p.Asn778=) rs1282599604 0.00001
NM_024422.6(DSC2):c.2370A>G (p.Gly790=) rs761302953 0.00001
NM_024422.6(DSC2):c.2379C>A (p.Thr793=) rs773813155 0.00001
NM_024422.6(DSC2):c.237C>T (p.Val79=) rs1002646457 0.00001
NM_024422.6(DSC2):c.2382G>A (p.Ser794=) rs761322462 0.00001
NM_024422.6(DSC2):c.2391C>T (p.Cys797=) rs544366164 0.00001
NM_024422.6(DSC2):c.2403C>T (p.Gly801=) rs1261715763 0.00001
NM_024422.6(DSC2):c.2416C>T (p.Leu806=) rs758409608 0.00001
NM_024422.6(DSC2):c.2430G>A (p.Arg810=) rs755276378 0.00001
NM_024422.6(DSC2):c.2472G>A (p.Ser824=) rs374348925 0.00001
NM_024422.6(DSC2):c.2509-8C>T rs772194578 0.00001
NM_024422.6(DSC2):c.2592G>A (p.Ser864=) rs1241309506 0.00001
NM_024422.6(DSC2):c.2610T>C (p.Gly870=) rs761875347 0.00001
NM_024422.6(DSC2):c.267G>A (p.Ser89=) rs201363937 0.00001
NM_024422.6(DSC2):c.2691A>G (p.Ala897=) rs555492553 0.00001
NM_024422.6(DSC2):c.285C>T (p.Thr95=) rs773333125 0.00001
NM_024422.6(DSC2):c.354+6C>T rs1987618823 0.00001
NM_024422.6(DSC2):c.354+9G>A rs1397580089 0.00001
NM_024422.6(DSC2):c.396C>T (p.Arg132=) rs773053517 0.00001
NM_024422.6(DSC2):c.429G>A (p.Ser143=) rs542638302 0.00001
NM_024422.6(DSC2):c.435A>G (p.Leu145=) rs1167062231 0.00001
NM_024422.6(DSC2):c.474+5C>T rs397517400 0.00001
NM_024422.6(DSC2):c.474+6G>A rs764362617 0.00001
NM_024422.6(DSC2):c.474+9T>C rs1400346935 0.00001
NM_024422.6(DSC2):c.475-4C>T rs1431130615 0.00001
NM_024422.6(DSC2):c.540A>G (p.Gln180=) rs1291095173 0.00001
NM_024422.6(DSC2):c.549G>T (p.Arg183=) rs774025474 0.00001
NM_024422.6(DSC2):c.561T>C (p.Tyr187=) rs749063028 0.00001
NM_024422.6(DSC2):c.585G>A (p.Leu195=) rs912124448 0.00001
NM_024422.6(DSC2):c.627T>C (p.Phe209=) rs754168300 0.00001
NM_024422.6(DSC2):c.687A>G (p.Leu229=) rs371192108 0.00001
NM_024422.6(DSC2):c.70-9A>G rs752022380 0.00001
NM_024422.6(DSC2):c.717C>T (p.Asn239=) rs768598370 0.00001
NM_024422.6(DSC2):c.775+8C>A rs757814061 0.00001
NM_024422.6(DSC2):c.777C>T (p.Gly259=) rs565694087 0.00001
NM_024422.6(DSC2):c.825G>A (p.Thr275=) rs767301887 0.00001
NM_024422.6(DSC2):c.942+22C>G rs748709100 0.00001
NM_024422.6(DSC2):c.975A>G (p.Val325=) rs1411764092 0.00001
NM_024422.6(DSC2):c.*137A>G rs78190086
NM_024422.6(DSC2):c.*764del rs796836744
NM_024422.6(DSC2):c.1005A>G (p.Leu335=)
NM_024422.6(DSC2):c.1020T>G (p.Thr340=)
NM_024422.6(DSC2):c.1029T>C (p.Ile343=) rs1555639124
NM_024422.6(DSC2):c.1038T>C (p.Asp346=) rs2144821248
NM_024422.6(DSC2):c.1041T>C (p.Asp347=) rs758394251
NM_024422.6(DSC2):c.1047T>C (p.Asn349=)
NM_024422.6(DSC2):c.1077+9A>G rs369381870
NM_024422.6(DSC2):c.1078-4T>A
NM_024422.6(DSC2):c.1078-7A>G rs781417647
NM_024422.6(DSC2):c.1104A>T (p.Thr368=) rs765717538
NM_024422.6(DSC2):c.1125A>G (p.Arg375=)
NM_024422.6(DSC2):c.1134T>C (p.Val378=) rs921023156
NM_024422.6(DSC2):c.1140T>C (p.Asp380=) rs1252165791
NM_024422.6(DSC2):c.1146C>T (p.Asp382=)
NM_024422.6(DSC2):c.114T>C (p.His38=)
NM_024422.6(DSC2):c.1197T>C (p.Asn399=)
NM_024422.6(DSC2):c.120C>T (p.Pro40=)
NM_024422.6(DSC2):c.1245A>T (p.Gly415=)
NM_024422.6(DSC2):c.1251T>C (p.Leu417=)
NM_024422.6(DSC2):c.1260T>C (p.Val420=) rs2144818822
NM_024422.6(DSC2):c.1263+12T>C
NM_024422.6(DSC2):c.1263+14A>T
NM_024422.6(DSC2):c.1263+19A>G
NM_024422.6(DSC2):c.1263+8_1263+10del rs2144818765
NM_024422.6(DSC2):c.1264-15C>T rs1361768625
NM_024422.6(DSC2):c.1264-19A>G
NM_024422.6(DSC2):c.1284G>A (p.Lys428=) rs1987176408
NM_024422.6(DSC2):c.129A>G (p.Leu43=) rs1987671247
NM_024422.6(DSC2):c.1317T>C (p.Asn439=) rs1987173870
NM_024422.6(DSC2):c.1323T>C (p.Ala441=) rs745795354
NM_024422.6(DSC2):c.1323T>G (p.Ala441=) rs745795354
NM_024422.6(DSC2):c.1326A>C (p.Pro442=)
NM_024422.6(DSC2):c.1326A>G (p.Pro442=)
NM_024422.6(DSC2):c.1350A>G (p.Arg450=) rs144242114
NM_024422.6(DSC2):c.1371A>C (p.Thr457=)
NM_024422.6(DSC2):c.1371A>G (p.Thr457=) rs1555638728
NM_024422.6(DSC2):c.1374T>A (p.Val458=) rs1295460147
NM_024422.6(DSC2):c.1377T>A (p.Thr459=)
NM_024422.6(DSC2):c.142C>T (p.Leu48Phe) rs769776739
NM_024422.6(DSC2):c.1446A>G (p.Glu482=)
NM_024422.6(DSC2):c.1452A>G (p.Ala484=) rs1555638690
NM_024422.6(DSC2):c.1452A>T (p.Ala484=)
NM_024422.6(DSC2):c.1476A>T (p.Gly492=)
NM_024422.6(DSC2):c.1479T>C (p.Tyr493=)
NM_024422.6(DSC2):c.1494A>G (p.Pro498=)
NM_024422.6(DSC2):c.1520+11T>C
NM_024422.6(DSC2):c.1520+20A>T
NM_024422.6(DSC2):c.1521-11A>G
NM_024422.6(DSC2):c.1521-14A>G
NM_024422.6(DSC2):c.1521-23_1521-8del
NM_024422.6(DSC2):c.154+15A>C
NM_024422.6(DSC2):c.154+9G>A rs562001495
NM_024422.6(DSC2):c.155-13A>G
NM_024422.6(DSC2):c.155-15G>A
NM_024422.6(DSC2):c.155-17G>A
NM_024422.6(DSC2):c.155-17G>T
NM_024422.6(DSC2):c.155-19C>G
NM_024422.6(DSC2):c.1557C>T (p.Thr519=) rs778658088
NM_024422.6(DSC2):c.1569T>C (p.Asn523=)
NM_024422.6(DSC2):c.1575A>T (p.Gly525=)
NM_024422.6(DSC2):c.1581C>A (p.Ile527=)
NM_024422.6(DSC2):c.1608G>A (p.Glu536=)
NM_024422.6(DSC2):c.1611A>G (p.Ala537=)
NM_024422.6(DSC2):c.1620C>A (p.Ile540=) rs765374888
NM_024422.6(DSC2):c.1620C>T (p.Ile540=)
NM_024422.6(DSC2):c.1635T>C (p.Tyr545=)
NM_024422.6(DSC2):c.1647C>T (p.Val549=) rs2144812470
NM_024422.6(DSC2):c.1653A>G (p.Ala551=) rs1021990449
NM_024422.6(DSC2):c.1663+9T>C
NM_024422.6(DSC2):c.1664-10A>G
NM_024422.6(DSC2):c.1664-19T>C
NM_024422.6(DSC2):c.1664-23TATTTT[3]
NM_024422.6(DSC2):c.1664-4C>A
NM_024422.6(DSC2):c.1686A>C (p.Thr562=) rs1986964013
NM_024422.6(DSC2):c.168G>A (p.Glu56=)
NM_024422.6(DSC2):c.1707C>T (p.Asp569=) rs201517977
NM_024422.6(DSC2):c.1713T>C (p.Asn571=)
NM_024422.6(DSC2):c.171C>T (p.Cys57=)
NM_024422.6(DSC2):c.1728C>T (p.Phe576=) rs1458351294
NM_024422.6(DSC2):c.1734T>G (p.Pro578=)
NM_024422.6(DSC2):c.1743A>T (p.Thr581=)
NM_024422.6(DSC2):c.1750A>G (p.Ile584Val) rs755041461
NM_024422.6(DSC2):c.1752C>T (p.Ile584=)
NM_024422.6(DSC2):c.1755C>T (p.Cys585=)
NM_024422.6(DSC2):c.1791T>C (p.Val597=)
NM_024422.6(DSC2):c.180T>A (p.Ala60=) rs2144847012
NM_024422.6(DSC2):c.1812T>C (p.His604=)
NM_024422.6(DSC2):c.1815C>T (p.Gly605=) rs770678394
NM_024422.6(DSC2):c.1824T>C (p.Phe608=)
NM_024422.6(DSC2):c.1830T>C (p.Phe610=) rs1986953386
NM_024422.6(DSC2):c.1833T>C (p.Ser611=) rs2144799607
NM_024422.6(DSC2):c.183A>G (p.Ala61=)
NM_024422.6(DSC2):c.1840A>G (p.Ser614Gly) rs1986952876
NM_024422.6(DSC2):c.1848T>A (p.Thr616=)
NM_024422.6(DSC2):c.1875G>A (p.Leu625=) rs142594406
NM_024422.6(DSC2):c.187C>T (p.Leu63=) rs1987628241
NM_024422.6(DSC2):c.1888+13G>C
NM_024422.6(DSC2):c.1888+13G>T
NM_024422.6(DSC2):c.1888+20G>A
NM_024422.6(DSC2):c.1889-14A>G
NM_024422.6(DSC2):c.1889-20T>G
NM_024422.6(DSC2):c.189A>G (p.Leu63=) rs1347894973
NM_024422.6(DSC2):c.1935A>G (p.Ser645=) rs878855084
NM_024422.6(DSC2):c.1938T>C (p.Tyr646=) rs397517395
NM_024422.6(DSC2):c.1956G>T (p.Val652=)
NM_024422.6(DSC2):c.1965A>G (p.Arg655=)
NM_024422.6(DSC2):c.1977T>C (p.Ser659=) rs770010850
NM_024422.6(DSC2):c.1980T>C (p.Ser660=) rs1986841255
NM_024422.6(DSC2):c.1989A>C (p.Ser663=)
NM_024422.6(DSC2):c.2010C>T (p.Asp670=)
NM_024422.6(DSC2):c.2013C>T (p.Cys671=) rs2144791194
NM_024422.6(DSC2):c.2040T>C (p.Arg680=)
NM_024422.6(DSC2):c.2049A>C (p.Pro683=)
NM_024422.6(DSC2):c.2049A>G (p.Pro683=)
NM_024422.6(DSC2):c.2058C>T (p.Gly686=) rs1177700048
NM_024422.6(DSC2):c.2061T>C (p.Gly687=)
NM_024422.6(DSC2):c.2076T>C (p.Leu692=)
NM_024422.6(DSC2):c.2097A>G (p.Ala699=)
NM_024422.6(DSC2):c.2106G>A (p.Leu702=)
NM_024422.6(DSC2):c.2116T>C (p.Leu706=) rs1986829654
NM_024422.6(DSC2):c.2121C>A (p.Leu707=)
NM_024422.6(DSC2):c.2125+11A>G
NM_024422.6(DSC2):c.2125+16T>A
NM_024422.6(DSC2):c.2125+8T>C
NM_024422.6(DSC2):c.2125+9T>G rs1555637547
NM_024422.6(DSC2):c.2126-11_2126-8del rs1476161781
NM_024422.6(DSC2):c.2126-15dup
NM_024422.6(DSC2):c.2126-20A>C
NM_024422.6(DSC2):c.2126-4C>A rs2144788686
NM_024422.6(DSC2):c.2126-6C>T
NM_024422.6(DSC2):c.2131C>T (p.Leu711=) rs1214149293
NM_024422.6(DSC2):c.2142G>A (p.Leu714=)
NM_024422.6(DSC2):c.2160G>C (p.Gly720=) rs2144788466
NM_024422.6(DSC2):c.2175A>G (p.Pro725=)
NM_024422.6(DSC2):c.2184T>C (p.Ile728=)
NM_024422.6(DSC2):c.2194T>C (p.Leu732=)
NM_024422.6(DSC2):c.2199C>T (p.Ala733=)
NM_024422.6(DSC2):c.2205G>A (p.Gln735=)
NM_024422.6(DSC2):c.2217A>G (p.Val739=)
NM_024422.6(DSC2):c.2217A>T (p.Val739=)
NM_024422.6(DSC2):c.2241T>C (p.Asp747=)
NM_024422.6(DSC2):c.2250+14C>T
NM_024422.6(DSC2):c.2251-13G>A rs1057523492
NM_024422.6(DSC2):c.2251-19C>T
NM_024422.6(DSC2):c.2251-4T>C rs2144784611
NM_024422.6(DSC2):c.2251-5T>C
NM_024422.6(DSC2):c.2253T>C (p.Tyr751=)
NM_024422.6(DSC2):c.2262T>C (p.Asn754=) rs2144784514
NM_024422.6(DSC2):c.2265C>T (p.Gly755=)
NM_024422.6(DSC2):c.2271A>G (p.Thr757=) rs2144784473
NM_024422.6(DSC2):c.2280T>A (p.Thr760=)
NM_024422.6(DSC2):c.2286C>T (p.Gly762=) rs549251334
NM_024422.6(DSC2):c.2289T>A (p.Ala763=)
NM_024422.6(DSC2):c.2289T>C (p.Ala763=) rs1986739564
NM_024422.6(DSC2):c.2304T>C (p.Val768=)
NM_024422.6(DSC2):c.2319A>G (p.Gly773=)
NM_024422.6(DSC2):c.2352C>T (p.Ile784=) rs562571453
NM_024422.6(DSC2):c.2365GGA[1] (p.Gly790del) rs377272752
NM_024422.6(DSC2):c.2373C>T (p.His791=)
NM_024422.6(DSC2):c.2382G>C (p.Ser794=) rs761322462
NM_024422.6(DSC2):c.2394G>A (p.Arg798=) rs1986729754
NM_024422.6(DSC2):c.2406C>T (p.His802=)
NM_024422.6(DSC2):c.240T>C (p.Tyr80=)
NM_024422.6(DSC2):c.2433A>T (p.Gly811=)
NM_024422.6(DSC2):c.2436A>G (p.Gly812=) rs754081349
NM_024422.6(DSC2):c.2438A>C (p.His813Pro) rs766881629
NM_024422.6(DSC2):c.2442G>C (p.Thr814=) rs750971227
NM_024422.6(DSC2):c.2469C>T (p.Tyr823=) rs1393087393
NM_024422.6(DSC2):c.2484T>C (p.Ser828=)
NM_024422.6(DSC2):c.2493G>A (p.Gln831=)
NM_024422.6(DSC2):c.2499T>A (p.Arg833=)
NM_024422.6(DSC2):c.2502T>C (p.Leu834=) rs1598570166
NM_024422.6(DSC2):c.2505T>G (p.Gly835=)
NM_024422.6(DSC2):c.2508+15G>A
NM_024422.6(DSC2):c.2508+16T>A
NM_024422.6(DSC2):c.2508+17G>A
NM_024422.6(DSC2):c.2508+19C>A
NM_024422.6(DSC2):c.2508+20C>T
NM_024422.6(DSC2):c.2509-11C>G rs1353395919
NM_024422.6(DSC2):c.2509-15T>A rs2144781524
NM_024422.6(DSC2):c.2509-19G>A
NM_024422.6(DSC2):c.2509-20_2509-18del
NM_024422.6(DSC2):c.2509-4G>A
NM_024422.6(DSC2):c.2514G>A (p.Val838=)
NM_024422.6(DSC2):c.2520G>C (p.Leu840=)
NM_024422.6(DSC2):c.2529A>G (p.Gln843=)
NM_024422.6(DSC2):c.2541C>T (p.His847=) rs1598569474
NM_024422.6(DSC2):c.2547T>C (p.His849=)
NM_024422.6(DSC2):c.2559T>C (p.Tyr853=)
NM_024422.6(DSC2):c.255T>A (p.Ile85=) rs970871881
NM_024422.6(DSC2):c.255T>C (p.Ile85=)
NM_024422.6(DSC2):c.2562C>G (p.Val854=)
NM_024422.6(DSC2):c.2562C>T (p.Val854=) rs1207984278
NM_024422.6(DSC2):c.2568A>G (p.Thr856=) rs1986693059
NM_024422.6(DSC2):c.2589A>T (p.Gly863=)
NM_024422.6(DSC2):c.2625A>G (p.Arg875=)
NM_024422.6(DSC2):c.2628A>G (p.Gln876=)
NM_024422.6(DSC2):c.2631A>G (p.Glu877=)
NM_024422.6(DSC2):c.2637T>C (p.Asp879=)
NM_024422.6(DSC2):c.2640G>A (p.Gly880=) rs2144780787
NM_024422.6(DSC2):c.2646A>G (p.Glu882=) rs773604134
NM_024422.6(DSC2):c.264C>T (p.Ser88=) rs1435506924
NM_024422.6(DSC2):c.2667C>T (p.Pro889=)
NM_024422.6(DSC2):c.2679A>G (p.Thr893=)
NM_024422.6(DSC2):c.2686_2687dup (p.Ala897fs) rs200056085
NM_024422.6(DSC2):c.288A>T (p.Ile96=)
NM_024422.6(DSC2):c.337T>C (p.Leu113=) rs2144846288
NM_024422.6(DSC2):c.342G>A (p.Glu114=) rs1598591230
NM_024422.6(DSC2):c.354+10G>C rs1987618587
NM_024422.6(DSC2):c.354+12T>A
NM_024422.6(DSC2):c.354+15A>C rs1303672773
NM_024422.6(DSC2):c.354+16T>C
NM_024422.6(DSC2):c.354+7A>T
NM_024422.6(DSC2):c.354+9G>C rs1397580089
NM_024422.6(DSC2):c.355-10A>C
NM_024422.6(DSC2):c.355-10A>G
NM_024422.6(DSC2):c.355-12T>C rs1987585083
NM_024422.6(DSC2):c.355-15G>A
NM_024422.6(DSC2):c.355-18C>T rs1159494088
NM_024422.6(DSC2):c.355-9T>C rs925436741
NM_024422.6(DSC2):c.357C>A (p.Val119=)
NM_024422.6(DSC2):c.357C>T (p.Val119=) rs1452043194
NM_024422.6(DSC2):c.369A>G (p.Arg123=)
NM_024422.6(DSC2):c.372T>C (p.His124=)
NM_024422.6(DSC2):c.381A>G (p.Glu127=)
NM_024422.6(DSC2):c.393G>A (p.Arg131=)
NM_024422.6(DSC2):c.417A>G (p.Pro139=)
NM_024422.6(DSC2):c.429G>C (p.Ser143=) rs542638302
NM_024422.6(DSC2):c.441C>T (p.Asn147=) rs2144843142
NM_024422.6(DSC2):c.453T>C (p.Pro151=)
NM_024422.6(DSC2):c.459A>G (p.Pro153=)
NM_024422.6(DSC2):c.471A>G (p.Gln157=) rs1367783973
NM_024422.6(DSC2):c.475-13A>G rs751631188
NM_024422.6(DSC2):c.475-5T>C rs1555639919
NM_024422.6(DSC2):c.489G>T (p.Thr163=) rs752952811
NM_024422.6(DSC2):c.525T>A (p.Gly175=)
NM_024422.6(DSC2):c.525T>C (p.Gly175=) rs541223771
NM_024422.6(DSC2):c.549G>A (p.Arg183=)
NM_024422.6(DSC2):c.549G>C (p.Arg183=) rs774025474
NM_024422.6(DSC2):c.555A>G (p.Leu185=) rs768367488
NM_024422.6(DSC2):c.570A>G (p.Arg190=)
NM_024422.6(DSC2):c.588T>C (p.Tyr196=) rs1987518239
NM_024422.6(DSC2):c.621A>G (p.Glu207=)
NM_024422.6(DSC2):c.630+10A>G rs2144838541
NM_024422.6(DSC2):c.630+12A>G
NM_024422.6(DSC2):c.630+19G>T rs750910749
NM_024422.6(DSC2):c.630+8C>A rs201147144
NM_024422.6(DSC2):c.631-10C>G rs745848441
NM_024422.6(DSC2):c.631-10C>T
NM_024422.6(DSC2):c.631-14T>A
NM_024422.6(DSC2):c.631-16T>G
NM_024422.6(DSC2):c.631-4A>C
NM_024422.6(DSC2):c.633A>C (p.Ile211=)
NM_024422.6(DSC2):c.636T>C (p.Ile212=)
NM_024422.6(DSC2):c.648A>C (p.Thr216=)
NM_024422.6(DSC2):c.660G>T (p.Gly220=)
NM_024422.6(DSC2):c.679C>T (p.Leu227=)
NM_024422.6(DSC2):c.684C>A (p.Pro228=) rs2144833912
NM_024422.6(DSC2):c.684C>T (p.Pro228=)
NM_024422.6(DSC2):c.693C>A (p.Ile231=) rs776727405
NM_024422.6(DSC2):c.70-18dup rs572309510
NM_024422.6(DSC2):c.70-19A>T
NM_024422.6(DSC2):c.702G>A (p.Glu234=) rs397517402
NM_024422.6(DSC2):c.726T>C (p.Ile242=)
NM_024422.6(DSC2):c.72C>A (p.Ile24=) rs757826575
NM_024422.6(DSC2):c.741T>C (p.Thr247=) rs1555639671
NM_024422.6(DSC2):c.741T>G (p.Thr247=) rs1555639671
NM_024422.6(DSC2):c.744T>C (p.Tyr248=) rs756495155
NM_024422.6(DSC2):c.753A>G (p.Thr251=) rs1987446637
NM_024422.6(DSC2):c.775+11C>A
NM_024422.6(DSC2):c.775+18C>T
NM_024422.6(DSC2):c.775+9C>T
NM_024422.6(DSC2):c.776-13dup rs1987414584
NM_024422.6(DSC2):c.776-4C>A
NM_024422.6(DSC2):c.776-5T>C
NM_024422.6(DSC2):c.807C>T (p.Asp269=)
NM_024422.6(DSC2):c.834A>G (p.Thr278=) rs2144830763
NM_024422.6(DSC2):c.858G>C (p.Gly286=)
NM_024422.6(DSC2):c.879C>A (p.Thr293=) rs1394417853
NM_024422.6(DSC2):c.882A>G (p.Leu294=)
NM_024422.6(DSC2):c.906C>T (p.Gly302=) rs776857618
NM_024422.6(DSC2):c.915C>T (p.Thr305=) rs1429668963
NM_024422.6(DSC2):c.927T>C (p.Ser309=) rs1434821927
NM_024422.6(DSC2):c.937A>C (p.Arg313=)
NM_024422.6(DSC2):c.93C>T (p.Ala31=)
NM_024422.6(DSC2):c.942+11C>A
NM_024422.6(DSC2):c.942+11_942+13dup
NM_024422.6(DSC2):c.942+13_942+15dup rs5823783
NM_024422.6(DSC2):c.942+14_942+15insTTG rs2144830055
NM_024422.6(DSC2):c.942+21A>T
NM_024422.6(DSC2):c.942+8A>C rs1475176981
NM_024422.6(DSC2):c.942+9A>G
NM_024422.6(DSC2):c.943-17T>A
NM_024422.6(DSC2):c.943-9dup rs1987283946
NM_024422.6(DSC2):c.945A>G (p.Leu315=) rs971660963
NM_024422.6(DSC2):c.975A>C (p.Val325=)
NM_024422.6(DSC2):c.978A>G (p.Gln326=) rs1598583853
NM_024422.6(DSC2):c.990T>A (p.Gly330=)
NM_024422.6(DSC2):c.990T>G (p.Gly330=) rs1396481707

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