ClinVar Miner

List of variants in gene DSC2 reported by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 350
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HGVS dbSNP gnomAD frequency
NM_024422.6(DSC2):c.2326A>G (p.Ile776Val) rs1893963 0.18480
NM_024422.6(DSC2):c.111A>G (p.Leu37=) rs12954874 0.10312
NM_024422.6(DSC2):c.351A>G (p.Thr117=) rs117812913 0.00832
NM_024422.6(DSC2):c.1719C>T (p.Asn573=) rs140167653 0.00590
NM_024422.6(DSC2):c.1264-5C>T rs183614856 0.00292
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.2497C>T (p.Arg833Cys) rs142410803 0.00045
NM_024422.6(DSC2):c.1914G>C (p.Gln638His) rs147742157 0.00036
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.1729A>G (p.Ile577Val) rs201845641 0.00025
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.1766T>C (p.Met589Thr) rs201856473 0.00016
NM_024422.6(DSC2):c.2471C>T (p.Ser824Leu) rs143413607 0.00016
NM_024422.6(DSC2):c.2019C>T (p.Thr673=) rs201469817 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.547C>T (p.Arg183Trp) rs368082152 0.00013
NM_024422.6(DSC2):c.734A>C (p.Glu245Ala) rs373201722 0.00013
NM_024422.6(DSC2):c.1070G>A (p.Arg357His) rs201201194 0.00011
NM_024422.6(DSC2):c.1721G>A (p.Ser574Asn) rs150318400 0.00010
NM_024422.6(DSC2):c.1844C>A (p.Ser615Tyr) rs756304120 0.00010
NM_024422.6(DSC2):c.2314G>A (p.Val772Met) rs146029947 0.00010
NM_024422.6(DSC2):c.1802A>C (p.Glu601Ala) rs537381028 0.00009
NM_024422.6(DSC2):c.2251-5T>G rs374262463 0.00009
NM_024422.6(DSC2):c.82G>T (p.Ala28Ser) rs139979318 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.596G>A (p.Arg199His) rs374707462 0.00008
NM_024422.6(DSC2):c.1091T>G (p.Val364Gly) rs368089478 0.00006
NM_024422.6(DSC2):c.1291A>G (p.Met431Val) rs377287621 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.2139G>A (p.Thr713=) rs112532429 0.00006
NM_024422.6(DSC2):c.2151G>C (p.Gly717=) rs752691135 0.00006
NM_024422.6(DSC2):c.2162C>T (p.Thr721Met) rs759513934 0.00006
NM_024422.6(DSC2):c.2245A>C (p.Lys749Gln) rs765067237 0.00006
NM_024422.6(DSC2):c.2259G>A (p.Ala753=) rs201086521 0.00006
NM_024422.6(DSC2):c.2603C>T (p.Ser868Phe) rs141873745 0.00006
NM_024422.6(DSC2):c.266C>T (p.Ser89Leu) rs141379407 0.00006
NM_024422.6(DSC2):c.1069C>T (p.Arg357Cys) rs879255385 0.00005
NM_024422.6(DSC2):c.1034T>C (p.Ile345Thr) rs777688726 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.2191G>A (p.Asp731Asn) rs762055797 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.2335G>A (p.Gly779Arg) rs139290300 0.00004
NM_024422.6(DSC2):c.2366G>A (p.Gly789Glu) rs766828422 0.00004
NM_024422.6(DSC2):c.239A>G (p.Tyr80Cys) rs369761766 0.00004
NM_024422.6(DSC2):c.2576A>G (p.Tyr859Cys) rs758950880 0.00004
NM_024422.6(DSC2):c.286A>G (p.Ile96Val) rs772447450 0.00004
NM_024422.6(DSC2):c.397G>A (p.Ala133Thr) rs200218585 0.00004
NM_024422.6(DSC2):c.408A>G (p.Arg136=) rs561653481 0.00004
NM_024422.6(DSC2):c.490G>A (p.Ala164Thr) rs978623916 0.00004
NM_024422.6(DSC2):c.669A>G (p.Pro223=) rs923697621 0.00004
NM_024422.6(DSC2):c.914C>T (p.Thr305Ile) rs1270395120 0.00004
NM_024422.6(DSC2):c.1018A>G (p.Thr340Ala) rs368299411 0.00003
NM_024422.6(DSC2):c.1019C>A (p.Thr340Asn) rs757065157 0.00003
NM_024422.6(DSC2):c.1264-4G>A rs377439942 0.00003
NM_024422.6(DSC2):c.1537G>T (p.Asp513Tyr) rs373324195 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.2036A>G (p.His679Arg) rs145710244 0.00003
NM_024422.6(DSC2):c.2059G>A (p.Gly687Ser) rs199616533 0.00003
NM_024422.6(DSC2):c.2157T>C (p.Ser719=) rs985629599 0.00003
NM_024422.6(DSC2):c.2624G>A (p.Arg875Gln) rs535014010 0.00003
NM_024422.6(DSC2):c.321G>T (p.Lys107Asn) rs140856220 0.00003
NM_024422.6(DSC2):c.395G>A (p.Arg132His) rs375410133 0.00003
NM_024422.6(DSC2):c.595C>T (p.Arg199Cys) rs769787593 0.00003
NM_024422.6(DSC2):c.708A>G (p.Glu236=) rs377279601 0.00003
NM_024422.6(DSC2):c.802A>G (p.Thr268Ala) rs201015785 0.00003
NM_024422.6(DSC2):c.818C>T (p.Pro273Leu) rs864622708 0.00003
NM_024422.6(DSC2):c.841A>G (p.Lys281Glu) rs373697870 0.00003
NM_024422.6(DSC2):c.870A>G (p.Pro290=) rs142653119 0.00003
NM_024422.6(DSC2):c.1231A>G (p.Lys411Glu) rs560482778 0.00002
NM_024422.6(DSC2):c.1438A>G (p.Met480Val) rs370616107 0.00002
NM_024422.6(DSC2):c.1456G>A (p.Val486Met) rs188634770 0.00002
NM_024422.6(DSC2):c.149G>A (p.Gly50Asp) rs397517391 0.00002
NM_024422.6(DSC2):c.1667G>A (p.Gly556Glu) rs977269905 0.00002
NM_024422.6(DSC2):c.1680G>A (p.Thr560=) rs567202599 0.00002
NM_024422.6(DSC2):c.1862G>T (p.Arg621Ile) rs1225904818 0.00002
NM_024422.6(DSC2):c.1875G>C (p.Leu625=) rs142594406 0.00002
NM_024422.6(DSC2):c.2138C>T (p.Thr713Met) rs180863872 0.00002
NM_024422.6(DSC2):c.2163G>A (p.Thr721=) rs773220437 0.00002
NM_024422.6(DSC2):c.2287G>A (p.Ala763Thr) rs777004957 0.00002
NM_024422.6(DSC2):c.2381C>T (p.Ser794Leu) rs1617629 0.00002
NM_024422.6(DSC2):c.2392C>T (p.Arg798Trp) rs201548399 0.00002
NM_024422.6(DSC2):c.2442G>A (p.Thr814=) rs750971227 0.00002
NM_024422.6(DSC2):c.2475G>C (p.Glu825Asp) rs776401728 0.00002
NM_024422.6(DSC2):c.360A>G (p.Leu120=) rs375772629 0.00002
NM_024422.6(DSC2):c.394C>T (p.Arg132Cys) rs727504578 0.00002
NM_024422.6(DSC2):c.489G>A (p.Thr163=) rs752952811 0.00002
NM_024422.6(DSC2):c.658G>A (p.Gly220Arg) rs750961818 0.00002
NM_024422.6(DSC2):c.745A>C (p.Thr249Pro) rs149848359 0.00002
NM_024422.6(DSC2):c.943-1G>A rs796756333 0.00002
NM_024422.6(DSC2):c.965A>G (p.Lys322Arg) rs1157312147 0.00002
NM_024422.6(DSC2):c.1024A>G (p.Ile342Val) rs746745677 0.00001
NM_024422.6(DSC2):c.1057C>A (p.Pro353Thr) rs999869714 0.00001
NM_024422.6(DSC2):c.105G>A (p.Val35=) rs776441487 0.00001
NM_024422.6(DSC2):c.1081G>A (p.Val361Met) rs751810874 0.00001
NM_024422.6(DSC2):c.1103C>T (p.Thr368Ile) rs538663626 0.00001
NM_024422.6(DSC2):c.1124G>A (p.Arg375Gln) rs770412621 0.00001
NM_024422.6(DSC2):c.1172C>A (p.Ala391Asp) rs1300215880 0.00001
NM_024422.6(DSC2):c.120C>A (p.Pro40=) rs773259822 0.00001
NM_024422.6(DSC2):c.133G>A (p.Ala45Thr) rs1467311353 0.00001
NM_024422.6(DSC2):c.1402G>A (p.Gly468Ser) rs149316362 0.00001
NM_024422.6(DSC2):c.1435C>T (p.Arg479Cys) rs138761522 0.00001
NM_024422.6(DSC2):c.1438A>C (p.Met480Leu) rs370616107 0.00001
NM_024422.6(DSC2):c.1469G>A (p.Ser490Asn) rs780446276 0.00001
NM_024422.6(DSC2):c.1547G>A (p.Gly516Glu) rs1402893994 0.00001
NM_024422.6(DSC2):c.1568A>G (p.Asn523Ser) rs766187198 0.00001
NM_024422.6(DSC2):c.1577C>T (p.Ser526Leu) rs887847751 0.00001
NM_024422.6(DSC2):c.1579A>G (p.Ile527Val) rs756058875 0.00001
NM_024422.6(DSC2):c.1596C>T (p.Ser532=) rs1387501743 0.00001
NM_024422.6(DSC2):c.1627G>A (p.Gly543Ser) rs1418248949 0.00001
NM_024422.6(DSC2):c.1628G>A (p.Gly543Asp) rs977709312 0.00001
NM_024422.6(DSC2):c.1697T>C (p.Ile566Thr) rs1399123480 0.00001
NM_024422.6(DSC2):c.1712A>G (p.Asn571Ser) rs1462605063 0.00001
NM_024422.6(DSC2):c.1760C>T (p.Pro587Leu) rs761123301 0.00001
NM_024422.6(DSC2):c.1781T>C (p.Ile594Thr) rs915888072 0.00001
NM_024422.6(DSC2):c.1783G>A (p.Val595Ile) rs1447974524 0.00001
NM_024422.6(DSC2):c.1803G>A (p.Glu601=) rs1288832288 0.00001
NM_024422.6(DSC2):c.1906T>G (p.Ser636Ala) rs1191039477 0.00001
NM_024422.6(DSC2):c.1916A>G (p.Asn639Ser) rs369281243 0.00001
NM_024422.6(DSC2):c.1981G>A (p.Val661Ile) rs781419827 0.00001
NM_024422.6(DSC2):c.1996G>A (p.Val666Ile) rs758646191 0.00001
NM_024422.6(DSC2):c.2039G>T (p.Arg680Leu) rs374002111 0.00001
NM_024422.6(DSC2):c.2104T>C (p.Leu702=) rs753742489 0.00001
NM_024422.6(DSC2):c.2147G>C (p.Cys716Ser) rs764008863 0.00001
NM_024422.6(DSC2):c.2158G>C (p.Gly720Arg) rs1170934513 0.00001
NM_024422.6(DSC2):c.2231C>T (p.Ala744Val) rs758269321 0.00001
NM_024422.6(DSC2):c.2244C>T (p.Asp748=) rs886039103 0.00001
NM_024422.6(DSC2):c.2258C>T (p.Ala753Val) rs1217851416 0.00001
NM_024422.6(DSC2):c.2313C>T (p.Thr771=) rs778571921 0.00001
NM_024422.6(DSC2):c.2318G>C (p.Gly773Ala) rs749174176 0.00001
NM_024422.6(DSC2):c.2328C>G (p.Ile776Met) rs1789054 0.00001
NM_024422.6(DSC2):c.2353G>A (p.Glu785Lys) rs752873618 0.00001
NM_024422.6(DSC2):c.2354A>G (p.Glu785Gly) rs769747496 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.2408A>G (p.His803Arg) rs150124218 0.00001
NM_024422.6(DSC2):c.2430G>A (p.Arg810=) rs755276378 0.00001
NM_024422.6(DSC2):c.2441C>T (p.Thr814Met) rs756497616 0.00001
NM_024422.6(DSC2):c.2472G>A (p.Ser824=) rs374348925 0.00001
NM_024422.6(DSC2):c.2512G>A (p.Val838Met) rs1986695514 0.00001
NM_024422.6(DSC2):c.2623C>T (p.Arg875Ter) rs727504823 0.00001
NM_024422.6(DSC2):c.2642T>A (p.Leu881His) rs1231247825 0.00001
NM_024422.6(DSC2):c.267G>A (p.Ser89=) rs201363937 0.00001
NM_024422.6(DSC2):c.2692T>C (p.Cys898Arg) rs1027240725 0.00001
NM_024422.6(DSC2):c.285C>T (p.Thr95=) rs773333125 0.00001
NM_024422.6(DSC2):c.325A>C (p.Ile109Leu) rs1256252633 0.00001
NM_024422.6(DSC2):c.327A>G (p.Ile109Met) rs373305929 0.00001
NM_024422.6(DSC2):c.355-3G>T rs975997446 0.00001
NM_024422.6(DSC2):c.363G>T (p.Lys121Asn) rs762877422 0.00001
NM_024422.6(DSC2):c.396C>T (p.Arg132=) rs773053517 0.00001
NM_024422.6(DSC2):c.425G>C (p.Cys142Ser) rs1478081073 0.00001
NM_024422.6(DSC2):c.474+5C>T rs397517400 0.00001
NM_024422.6(DSC2):c.488C>T (p.Thr163Met) rs758759298 0.00001
NM_024422.6(DSC2):c.517A>T (p.Ile173Leu) rs766855728 0.00001
NM_024422.6(DSC2):c.540A>G (p.Gln180=) rs1291095173 0.00001
NM_024422.6(DSC2):c.561T>C (p.Tyr187=) rs749063028 0.00001
NM_024422.6(DSC2):c.617A>G (p.Tyr206Cys) rs753004247 0.00001
NM_024422.6(DSC2):c.627T>C (p.Phe209=) rs754168300 0.00001
NM_024422.6(DSC2):c.631-2A>G rs397514042 0.00001
NM_024422.6(DSC2):c.687A>G (p.Leu229=) rs371192108 0.00001
NM_024422.6(DSC2):c.697A>G (p.Ile233Val) rs886039077 0.00001
NM_024422.6(DSC2):c.746C>A (p.Thr249Asn) rs1987447409 0.00001
NM_024422.6(DSC2):c.769A>G (p.Arg257Gly) rs1253861748 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.872C>T (p.Ser291Leu) rs755952123 0.00001
NM_024422.6(DSC2):c.949G>A (p.Asp317Asn) rs769219956 0.00001
NM_024422.6(DSC2):c.975A>G (p.Val325=) rs1411764092 0.00001
NM_024422.6(DSC2):c.1041T>C (p.Asp347=) rs758394251
NM_024422.6(DSC2):c.1070G>T (p.Arg357Leu)
NM_024422.6(DSC2):c.1072A>C (p.Thr358Pro)
NM_024422.6(DSC2):c.1073C>A (p.Thr358Asn) rs139399951
NM_024422.6(DSC2):c.1083G>A (p.Val361=)
NM_024422.6(DSC2):c.1084A>T (p.Thr362Ser) rs1428685920
NM_024422.6(DSC2):c.1123C>G (p.Arg375Gly) rs794728075
NM_024422.6(DSC2):c.1192G>A (p.Gly398Ser) rs1060502991
NM_024422.6(DSC2):c.1204G>T (p.Gly402Cys) rs1598583039
NM_024422.6(DSC2):c.1205G>T (p.Gly402Val)
NM_024422.6(DSC2):c.1206C>A (p.Gly402=) rs749170272
NM_024422.6(DSC2):c.1239T>G (p.Asn413Lys) rs765511398
NM_024422.6(DSC2):c.1301A>C (p.Gln434Pro)
NM_024422.6(DSC2):c.1307G>T (p.Gly436Val) rs763981974
NM_024422.6(DSC2):c.1323T>G (p.Ala441=) rs745795354
NM_024422.6(DSC2):c.1324C>T (p.Pro442Ser) rs201480399
NM_024422.6(DSC2):c.1335A>C (p.Arg445Ser)
NM_024422.6(DSC2):c.135C>G (p.Ala45=)
NM_024422.6(DSC2):c.1398T>A (p.Asp466Glu)
NM_024422.6(DSC2):c.1423A>T (p.Ile475Leu)
NM_024422.6(DSC2):c.1424T>C (p.Ile475Thr) rs1022023137
NM_024422.6(DSC2):c.142C>T (p.Leu48Phe) rs769776739
NM_024422.6(DSC2):c.1436G>A (p.Arg479His) rs774641579
NM_024422.6(DSC2):c.1436G>T (p.Arg479Leu) rs774641579
NM_024422.6(DSC2):c.1452A>G (p.Ala484=) rs1555638690
NM_024422.6(DSC2):c.1472A>G (p.Asn491Ser) rs770114301
NM_024422.6(DSC2):c.1475G>C (p.Gly492Ala)
NM_024422.6(DSC2):c.150T>C (p.Gly50=)
NM_024422.6(DSC2):c.1521-1G>A rs886039128
NM_024422.6(DSC2):c.1530A>C (p.Lys510Asn)
NM_024422.6(DSC2):c.1544C>T (p.Thr515Ile)
NM_024422.6(DSC2):c.1556C>A (p.Thr519Asn)
NM_024422.6(DSC2):c.158A>T (p.Asn53Ile)
NM_024422.6(DSC2):c.1601A>T (p.Asp534Val)
NM_024422.6(DSC2):c.1634ATA[1] (p.Asn546del) rs1485939608
NM_024422.6(DSC2):c.1653A>G (p.Ala551=) rs1021990449
NM_024422.6(DSC2):c.1675T>C (p.Cys559Arg)
NM_024422.6(DSC2):c.1707C>A (p.Asp569Glu) rs201517977
NM_024422.6(DSC2):c.1707C>T (p.Asp569=) rs201517977
NM_024422.6(DSC2):c.1715A>T (p.Asp572Val) rs1030017004
NM_024422.6(DSC2):c.1750A>G (p.Ile584Val) rs755041461
NM_024422.6(DSC2):c.176C>T (p.Thr59Ile)
NM_024422.6(DSC2):c.1777G>T (p.Glu593Ter)
NM_024422.6(DSC2):c.1783G>T (p.Val595Phe)
NM_024422.6(DSC2):c.1819C>T (p.Pro607Ser)
NM_024422.6(DSC2):c.1823T>A (p.Phe608Tyr)
NM_024422.6(DSC2):c.1828T>C (p.Phe610Leu)
NM_024422.6(DSC2):c.182C>A (p.Ala61Glu) rs758707293
NM_024422.6(DSC2):c.182C>G (p.Ala61Gly) rs758707293
NM_024422.6(DSC2):c.1830T>C (p.Phe610=) rs1986953386
NM_024422.6(DSC2):c.1840A>G (p.Ser614Gly) rs1986952876
NM_024422.6(DSC2):c.1845T>C (p.Ser615=)
NM_024422.6(DSC2):c.1858C>T (p.Gln620Ter) rs1986951516
NM_024422.6(DSC2):c.1873C>G (p.Leu625Val)
NM_024422.6(DSC2):c.1875G>A (p.Leu625=) rs142594406
NM_024422.6(DSC2):c.1896A>C (p.Ala632=)
NM_024422.6(DSC2):c.1900C>T (p.Arg634Cys) rs1443409965
NM_024422.6(DSC2):c.1901G>T (p.Arg634Leu) rs200475862
NM_024422.6(DSC2):c.1925C>T (p.Pro642Leu)
NM_024422.6(DSC2):c.1934C>T (p.Ser645Leu) rs1339580561
NM_024422.6(DSC2):c.1939G>A (p.Val647Ile)
NM_024422.6(DSC2):c.193C>G (p.His65Asp) rs2144846957
NM_024422.6(DSC2):c.1977T>C (p.Ser659=) rs770010850
NM_024422.6(DSC2):c.1994A>G (p.Asp665Gly) rs778236763
NM_024422.6(DSC2):c.2012_2013delinsCT (p.Cys671Ser) rs869025387
NM_024422.6(DSC2):c.2014A>G (p.Ile672Val) rs375842356
NM_024422.6(DSC2):c.2038C>A (p.Arg680Ser) rs757253682
NM_024422.6(DSC2):c.2039G>A (p.Arg680His) rs374002111
NM_024422.6(DSC2):c.2063G>A (p.Gly688Glu)
NM_024422.6(DSC2):c.2092C>T (p.Leu698Phe) rs1555637561
NM_024422.6(DSC2):c.2125+1G>A
NM_024422.6(DSC2):c.2132T>A (p.Leu711Gln)
NM_024422.6(DSC2):c.2138C>A (p.Thr713Lys) rs180863872
NM_024422.6(DSC2):c.216A>C (p.Gln72His) rs767293228
NM_024422.6(DSC2):c.2185C>A (p.Pro729Thr) rs1422818892
NM_024422.6(DSC2):c.2186del (p.Pro729fs) rs1598572298
NM_024422.6(DSC2):c.2198C>T (p.Ala733Val) rs886053695
NM_024422.6(DSC2):c.219T>A (p.Ile73=)
NM_024422.6(DSC2):c.2237G>A (p.Gly746Glu)
NM_024422.6(DSC2):c.2255C>T (p.Ser752Phe)
NM_024422.6(DSC2):c.2276A>C (p.Gln759Pro)
NM_024422.6(DSC2):c.2279C>G (p.Thr760Ser) rs1331111206
NM_024422.6(DSC2):c.2285G>A (p.Gly762Asp)
NM_024422.6(DSC2):c.2286C>T (p.Gly762=) rs549251334
NM_024422.6(DSC2):c.2303T>C (p.Val768Ala)
NM_024422.6(DSC2):c.230G>A (p.Gly77Asp) rs761544006
NM_024422.6(DSC2):c.2343G>A (p.Gln781=)
NM_024422.6(DSC2):c.2344G>A (p.Glu782Lys) rs866805043
NM_024422.6(DSC2):c.2359G>A (p.Val787Met) rs1789053
NM_024422.6(DSC2):c.2365GGA[1] (p.Gly790del) rs377272752
NM_024422.6(DSC2):c.236T>G (p.Val79Gly) rs886038828
NM_024422.6(DSC2):c.2375A>G (p.Gln792Arg)
NM_024422.6(DSC2):c.2393G>A (p.Arg798Gln) rs61731921
NM_024422.6(DSC2):c.2394G>A (p.Arg798=) rs1986729754
NM_024422.6(DSC2):c.2412C>T (p.His804=)
NM_024422.6(DSC2):c.2426G>A (p.Cys809Tyr)
NM_024422.6(DSC2):c.2431G>T (p.Gly811Ter)
NM_024422.6(DSC2):c.2432del (p.Gly811fs)
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.2440A>T (p.Thr814Ser)
NM_024422.6(DSC2):c.2456G>A (p.Cys819Tyr) rs773961399
NM_024422.6(DSC2):c.245C>A (p.Thr82Lys)
NM_024422.6(DSC2):c.246A>G (p.Thr82=)
NM_024422.6(DSC2):c.2478G>C (p.Trp826Cys)
NM_024422.6(DSC2):c.248A>G (p.Asn83Ser)
NM_024422.6(DSC2):c.2508+1G>A
NM_024422.6(DSC2):c.2541C>T (p.His847=) rs1598569474
NM_024422.6(DSC2):c.2548G>T (p.Ala850Ser)
NM_024422.6(DSC2):c.2548delinsTT (p.Ala850fs) rs794728077
NM_024422.6(DSC2):c.255T>A (p.Ile85=) rs970871881
NM_024422.6(DSC2):c.2582_2585dup (p.Gly863fs) rs780970079
NM_024422.6(DSC2):c.2588G>T (p.Gly863Val)
NM_024422.6(DSC2):c.2638G>A (p.Gly880Arg) rs1986686862
NM_024422.6(DSC2):c.2686_2687dup (p.Ala897fs) rs200056085
NM_024422.6(DSC2):c.275G>T (p.Arg92Ile)
NM_024422.6(DSC2):c.296C>A (p.Ser99Tyr)
NM_024422.6(DSC2):c.309C>A (p.Asn103Lys) rs1484070582
NM_024422.6(DSC2):c.310C>A (p.Gln104Lys)
NM_024422.6(DSC2):c.322A>G (p.Lys108Glu)
NM_024422.6(DSC2):c.358C>A (p.Leu120Ile)
NM_024422.6(DSC2):c.370C>T (p.His124Tyr) rs371443698
NM_024422.6(DSC2):c.372T>C (p.His124=)
NM_024422.6(DSC2):c.433C>T (p.Leu145=)
NM_024422.6(DSC2):c.451C>A (p.Pro151Thr)
NM_024422.6(DSC2):c.456_458delinsCG (p.Pro153fs)
NM_024422.6(DSC2):c.475-5T>C rs1555639919
NM_024422.6(DSC2):c.570A>G (p.Arg190=)
NM_024422.6(DSC2):c.571_572dup (p.Asp191fs)
NM_024422.6(DSC2):c.574A>C (p.Thr192Pro) rs876657789
NM_024422.6(DSC2):c.587_597del (p.Tyr196fs)
NM_024422.6(DSC2):c.588T>C (p.Tyr196=) rs1987518239
NM_024422.6(DSC2):c.737A>G (p.Glu246Gly) rs1057524741
NM_024422.6(DSC2):c.744T>C (p.Tyr248=) rs756495155
NM_024422.6(DSC2):c.754A>G (p.Ile252Val) rs751996698
NM_024422.6(DSC2):c.776G>A (p.Gly259Asp) rs1335645459
NM_024422.6(DSC2):c.782C>T (p.Thr261Ile)
NM_024422.6(DSC2):c.812A>T (p.Asp271Val) rs1987412406
NM_024422.6(DSC2):c.832A>G (p.Thr278Ala)
NM_024422.6(DSC2):c.83C>A (p.Ala28Asp)
NM_024422.6(DSC2):c.860A>C (p.Gln287Pro)
NM_024422.6(DSC2):c.861_862delinsCT (p.Gln287_Val288delinsHisLeu) rs1555639508
NM_024422.6(DSC2):c.863T>G (p.Val288Gly)
NM_024422.6(DSC2):c.879C>A (p.Thr293=) rs1394417853
NM_024422.6(DSC2):c.906C>T (p.Gly302=) rs776857618
NM_024422.6(DSC2):c.932T>C (p.Leu311Pro)
NM_024422.6(DSC2):c.942+13_942+15dup rs5823783
NM_024422.6(DSC2):c.947T>C (p.Ile316Thr)
NM_024422.6(DSC2):c.960G>C (p.Gln320His)
NM_024422.6(DSC2):c.968T>C (p.Ile323Thr)
NM_024422.6(DSC2):c.96del (p.Ala31_Cys32insTer) rs397517408
NM_024422.6(DSC2):c.978A>G (p.Gln326=) rs1598583853
NM_024422.6(DSC2):c.994T>C (p.Tyr332His) rs794728067

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