ClinVar Miner

List of variants in gene DSC2 reported as uncertain significance by Color Diagnostics, LLC DBA Color Health

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 351
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HGVS dbSNP gnomAD frequency
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.1766T>C (p.Met589Thr) rs201856473 0.00016
NM_024422.6(DSC2):c.2471C>T (p.Ser824Leu) rs143413607 0.00016
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.1721G>A (p.Ser574Asn) rs150318400 0.00010
NM_024422.6(DSC2):c.1844C>A (p.Ser615Tyr) rs756304120 0.00010
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.136G>A (p.Glu46Lys) rs180908546 0.00008
NM_024422.6(DSC2):c.295T>A (p.Ser99Thr) rs199714872 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.2162C>T (p.Thr721Met) rs759513934 0.00006
NM_024422.6(DSC2):c.2245A>C (p.Lys749Gln) rs765067237 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.835C>T (p.Arg279Cys) rs193922708 0.00005
NM_024422.6(DSC2):c.1034T>C (p.Ile345Thr) rs777688726 0.00004
NM_024422.6(DSC2):c.2191G>A (p.Asp731Asn) rs762055797 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.2591C>T (p.Ser864Leu) rs202031070 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.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.1048G>T (p.Asp350Tyr) rs766413086 0.00003
NM_024422.6(DSC2):c.115G>A (p.Val39Ile) rs1447651355 0.00003
NM_024422.6(DSC2):c.1537G>T (p.Asp513Tyr) rs373324195 0.00003
NM_024422.6(DSC2):c.1814G>A (p.Gly605Asp) rs1342808624 0.00003
NM_024422.6(DSC2):c.2020G>A (p.Glu674Lys) rs1483383737 0.00003
NM_024422.6(DSC2):c.2059G>A (p.Gly687Ser) rs199616533 0.00003
NM_024422.6(DSC2):c.2126G>A (p.Cys709Tyr) rs145831682 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.601G>A (p.Val201Ile) rs202058544 0.00003
NM_024422.6(DSC2):c.619G>C (p.Glu207Gln) rs200634448 0.00003
NM_024422.6(DSC2):c.802A>G (p.Thr268Ala) rs201015785 0.00003
NM_024422.6(DSC2):c.1033A>G (p.Ile345Val) rs1177194145 0.00002
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.149G>A (p.Gly50Asp) rs397517391 0.00002
NM_024422.6(DSC2):c.1846A>G (p.Thr616Ala) rs753887142 0.00002
NM_024422.6(DSC2):c.1862G>T (p.Arg621Ile) rs1225904818 0.00002
NM_024422.6(DSC2):c.1938T>G (p.Tyr646Ter) rs397517395 0.00002
NM_024422.6(DSC2):c.2138C>T (p.Thr713Met) rs180863872 0.00002
NM_024422.6(DSC2):c.2287G>A (p.Ala763Thr) rs777004957 0.00002
NM_024422.6(DSC2):c.2392C>T (p.Arg798Trp) rs201548399 0.00002
NM_024422.6(DSC2):c.394C>T (p.Arg132Cys) rs727504578 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.865C>T (p.Pro289Ser) rs200802591 0.00002
NM_024422.6(DSC2):c.874C>T (p.Pro292Ser) rs767340313 0.00002
NM_024422.6(DSC2):c.898A>G (p.Thr300Ala) rs531245154 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.977A>C (p.Gln326Pro) rs397517409 0.00002
NM_024422.6(DSC2):c.1024A>G (p.Ile342Val) rs746745677 0.00001
NM_024422.6(DSC2):c.1039G>T (p.Asp347Tyr) rs1214725211 0.00001
NM_024422.6(DSC2):c.1057C>A (p.Pro353Thr) rs999869714 0.00001
NM_024422.6(DSC2):c.1172C>A (p.Ala391Asp) rs1300215880 0.00001
NM_024422.6(DSC2):c.1309G>C (p.Val437Leu) rs775579662 0.00001
NM_024422.6(DSC2):c.1315A>G (p.Asn439Asp) rs148712725 0.00001
NM_024422.6(DSC2):c.133G>A (p.Ala45Thr) rs1467311353 0.00001
NM_024422.6(DSC2):c.1399G>C (p.Glu467Gln) rs1208470556 0.00001
NM_024422.6(DSC2):c.1421C>T (p.Pro474Leu) rs776398212 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.146T>C (p.Val49Ala) rs1275514075 0.00001
NM_024422.6(DSC2):c.1506T>A (p.Ser502Arg) rs756803622 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.1579A>G (p.Ile527Val) rs756058875 0.00001
NM_024422.6(DSC2):c.1581C>G (p.Ile527Met) rs750329563 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.1634A>G (p.Tyr545Cys) rs776917359 0.00001
NM_024422.6(DSC2):c.1663G>A (p.Gly555Arg) rs1598580423 0.00001
NM_024422.6(DSC2):c.1679C>T (p.Thr560Met) rs772775522 0.00001
NM_024422.6(DSC2):c.1693A>G (p.Ile565Val) rs780712159 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.1783G>A (p.Val595Ile) rs1447974524 0.00001
NM_024422.6(DSC2):c.1796C>G (p.Pro599Arg) rs377384219 0.00001
NM_024422.6(DSC2):c.1910A>G (p.Tyr637Cys) rs758990451 0.00001
NM_024422.6(DSC2):c.2039G>T (p.Arg680Leu) rs374002111 0.00001
NM_024422.6(DSC2):c.2158G>C (p.Gly720Arg) rs1170934513 0.00001
NM_024422.6(DSC2):c.2206A>G (p.Asn736Asp) rs371950232 0.00001
NM_024422.6(DSC2):c.2231C>T (p.Ala744Val) rs758269321 0.00001
NM_024422.6(DSC2):c.2258C>T (p.Ala753Val) rs1217851416 0.00001
NM_024422.6(DSC2):c.2300G>A (p.Gly767Glu) rs772898155 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.2342A>G (p.Gln781Arg) rs1244664122 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.2357T>C (p.Met786Thr) rs397517398 0.00001
NM_024422.6(DSC2):c.2368G>A (p.Gly790Arg) rs1335955296 0.00001
NM_024422.6(DSC2):c.2419G>C (p.Asp807His) rs748323101 0.00001
NM_024422.6(DSC2):c.2441C>T (p.Thr814Met) rs756497616 0.00001
NM_024422.6(DSC2):c.2452A>G (p.Asn818Asp) rs1454999415 0.00001
NM_024422.6(DSC2):c.2512G>A (p.Val838Met) rs1986695514 0.00001
NM_024422.6(DSC2):c.2597C>G (p.Ala866Gly) rs760363798 0.00001
NM_024422.6(DSC2):c.2623C>T (p.Arg875Ter) rs727504823 0.00001
NM_024422.6(DSC2):c.2626C>G (p.Gln876Glu) rs727504906 0.00001
NM_024422.6(DSC2):c.2692T>C (p.Cys898Arg) rs1027240725 0.00001
NM_024422.6(DSC2):c.2694C>A (p.Cys898Ter) rs1986684188 0.00001
NM_024422.6(DSC2):c.327A>G (p.Ile109Met) rs373305929 0.00001
NM_024422.6(DSC2):c.363G>T (p.Lys121Asn) rs762877422 0.00001
NM_024422.6(DSC2):c.373A>G (p.Thr125Ala) rs369061469 0.00001
NM_024422.6(DSC2):c.412G>A (p.Ala138Thr) rs1405349273 0.00001
NM_024422.6(DSC2):c.488C>T (p.Thr163Met) rs758759298 0.00001
NM_024422.6(DSC2):c.509A>G (p.Tyr170Cys) rs759910399 0.00001
NM_024422.6(DSC2):c.517A>T (p.Ile173Leu) rs766855728 0.00001
NM_024422.6(DSC2):c.587A>G (p.Tyr196Cys) rs1987518387 0.00001
NM_024422.6(DSC2):c.608G>A (p.Arg203His) rs758527425 0.00001
NM_024422.6(DSC2):c.617A>G (p.Tyr206Cys) rs753004247 0.00001
NM_024422.6(DSC2):c.631-2A>G rs397514042 0.00001
NM_024422.6(DSC2):c.638C>T (p.Ala213Val) rs1299475740 0.00001
NM_024422.6(DSC2):c.662A>G (p.Tyr221Cys) rs1265924444 0.00001
NM_024422.6(DSC2):c.70A>G (p.Ile24Val) rs1228372400 0.00001
NM_024422.6(DSC2):c.740C>A (p.Thr247Asn) rs1171077859 0.00001
NM_024422.6(DSC2):c.769A>G (p.Arg257Gly) rs1253861748 0.00001
NM_024422.6(DSC2):c.836G>A (p.Arg279His) rs775614779 0.00001
NM_024422.6(DSC2):c.872C>T (p.Ser291Leu) rs755952123 0.00001
NM_024422.6(DSC2):c.880C>A (p.Leu294Ile) rs761796202 0.00001
NM_024422.6(DSC2):c.893A>T (p.His298Leu) rs397517407 0.00001
NM_024422.6(DSC2):c.901A>G (p.Thr301Ala) rs576466497 0.00001
NM_024422.6(DSC2):c.*3G>T rs1239137048
NM_024422.6(DSC2):c.1037A>T (p.Asp346Val) rs1567978310
NM_024422.6(DSC2):c.1040A>G (p.Asp347Gly) rs2144821231
NM_024422.6(DSC2):c.1057C>G (p.Pro353Ala) rs999869714
NM_024422.6(DSC2):c.1077+2T>G rs397517389
NM_024422.6(DSC2):c.1084A>T (p.Thr362Ser) rs1428685920
NM_024422.6(DSC2):c.1111G>T (p.Val371Leu) rs1252791235
NM_024422.6(DSC2):c.1112T>C (p.Val371Ala) rs772863598
NM_024422.6(DSC2):c.1122_1123insAA (p.Arg375fs) rs2144819390
NM_024422.6(DSC2):c.1123C>G (p.Arg375Gly) rs794728075
NM_024422.6(DSC2):c.1157C>G (p.Thr386Ser) rs1567977932
NM_024422.6(DSC2):c.118C>A (p.Pro40Thr)
NM_024422.6(DSC2):c.1210T>G (p.Phe404Val) rs1987247302
NM_024422.6(DSC2):c.1213A>T (p.Lys405Ter) rs1023394201
NM_024422.6(DSC2):c.1215A>T (p.Lys405Asn) rs781472939
NM_024422.6(DSC2):c.121T>C (p.Ser41Pro) rs2144850316
NM_024422.6(DSC2):c.122C>T (p.Ser41Phe)
NM_024422.6(DSC2):c.1232A>G (p.Lys411Arg) rs1567977831
NM_024422.6(DSC2):c.1239T>A (p.Asn413Lys) rs765511398
NM_024422.6(DSC2):c.1263+5G>A rs1329734211
NM_024422.6(DSC2):c.1276G>A (p.Glu426Lys) rs794728076
NM_024422.6(DSC2):c.1292T>C (p.Met431Thr) rs766923814
NM_024422.6(DSC2):c.1307G>A (p.Gly436Asp) rs763981974
NM_024422.6(DSC2):c.1307G>C (p.Gly436Ala) rs763981974
NM_024422.6(DSC2):c.1322C>T (p.Ala441Val) rs1987173725
NM_024422.6(DSC2):c.1339G>A (p.Ala447Thr) rs2144814116
NM_024422.6(DSC2):c.1343G>A (p.Ser448Asn) rs778959850
NM_024422.6(DSC2):c.1350A>C (p.Arg450Ser) rs144242114
NM_024422.6(DSC2):c.1352C>G (p.Ser451Ter) rs794728068
NM_024422.6(DSC2):c.1396G>C (p.Asp466His)
NM_024422.6(DSC2):c.1412G>A (p.Cys471Tyr) rs1314641804
NM_024422.6(DSC2):c.1417C>T (p.Pro473Ser) rs865914095
NM_024422.6(DSC2):c.1418C>T (p.Pro473Leu) rs1987166340
NM_024422.6(DSC2):c.1436G>T (p.Arg479Leu) rs774641579
NM_024422.6(DSC2):c.1444G>A (p.Glu482Lys) rs1987164342
NM_024422.6(DSC2):c.1448A>T (p.Asn483Ile) rs1987164076
NM_024422.6(DSC2):c.1462A>G (p.Thr488Ala) rs1987163518
NM_024422.6(DSC2):c.1465A>G (p.Thr489Ala) rs1987163251
NM_024422.6(DSC2):c.1468A>G (p.Ser490Gly) rs2144813452
NM_024422.6(DSC2):c.1472A>G (p.Asn491Ser) rs770114301
NM_024422.6(DSC2):c.1478A>G (p.Tyr493Cys) rs1987162049
NM_024422.6(DSC2):c.1490A>T (p.Asp497Val) rs2144813366
NM_024422.6(DSC2):c.1510A>G (p.Ser504Gly) rs750965801
NM_024422.6(DSC2):c.1514G>A (p.Gly505Asp) rs1987160435
NM_024422.6(DSC2):c.1520G>A (p.Arg507Lys) rs2144813287
NM_024422.6(DSC2):c.1543A>G (p.Thr515Ala) rs771406828
NM_024422.6(DSC2):c.155-1G>A rs1987629887
NM_024422.6(DSC2):c.1552G>T (p.Val518Phe)
NM_024422.6(DSC2):c.1555A>G (p.Thr519Ala) rs1987153246
NM_024422.6(DSC2):c.1556C>T (p.Thr519Ile) rs1987153056
NM_024422.6(DSC2):c.155T>C (p.Val52Ala) rs1987629779
NM_024422.6(DSC2):c.1564G>A (p.Glu522Lys)
NM_024422.6(DSC2):c.1588T>C (p.Phe530Leu) rs939273596
NM_024422.6(DSC2):c.1593A>C (p.Arg531Ser) rs762973455
NM_024422.6(DSC2):c.1594A>G (p.Ser532Gly) rs2144812707
NM_024422.6(DSC2):c.1620C>G (p.Ile540Met) rs765374888
NM_024422.6(DSC2):c.1651G>A (p.Ala551Thr) rs1987146258
NM_024422.6(DSC2):c.1664-1G>C rs776877367
NM_024422.6(DSC2):c.1664G>A (p.Gly555Glu) rs766681408
NM_024422.6(DSC2):c.1673C>T (p.Thr558Ile) rs1277586365
NM_024422.6(DSC2):c.1681G>C (p.Gly561Arg) rs2144800482
NM_024422.6(DSC2):c.1706A>T (p.Asp569Val)
NM_024422.6(DSC2):c.1707C>A (p.Asp569Glu) rs201517977
NM_024422.6(DSC2):c.1708G>A (p.Val570Met) rs992887444
NM_024422.6(DSC2):c.1708G>C (p.Val570Leu) rs992887444
NM_024422.6(DSC2):c.1711A>T (p.Asn571Tyr) rs2144800393
NM_024422.6(DSC2):c.1717A>G (p.Asn573Asp) rs1057518818
NM_024422.6(DSC2):c.1735A>G (p.Lys579Glu) rs1358638028
NM_024422.6(DSC2):c.1750A>G (p.Ile584Val) rs755041461
NM_024422.6(DSC2):c.1763C>T (p.Thr588Ile) rs1674674418
NM_024422.6(DSC2):c.1766T>A (p.Met589Lys) rs201856473
NM_024422.6(DSC2):c.1767G>A (p.Met589Ile) rs2144800002
NM_024422.6(DSC2):c.1782T>G (p.Ile594Met)
NM_024422.6(DSC2):c.1786G>A (p.Ala596Thr) rs1438904893
NM_024422.6(DSC2):c.182C>A (p.Ala61Glu) rs758707293
NM_024422.6(DSC2):c.1866G>A (p.Met622Ile) rs2144799406
NM_024422.6(DSC2):c.1888+1G>C rs1986950096
NM_024422.6(DSC2):c.1892C>T (p.Thr631Ile)
NM_024422.6(DSC2):c.1898C>T (p.Ala633Val) rs1986847217
NM_024422.6(DSC2):c.1900C>T (p.Arg634Cys) rs1443409965
NM_024422.6(DSC2):c.1907C>G (p.Ser636Cys) rs764355417
NM_024422.6(DSC2):c.1918G>A (p.Asp640Asn) rs267605146
NM_024422.6(DSC2):c.1939del (p.Tyr646_Val647insTer) rs1986844120
NM_024422.6(DSC2):c.1946C>T (p.Pro649Leu) rs765948147
NM_024422.6(DSC2):c.1953A>G (p.Thr651=)
NM_024422.6(DSC2):c.1960G>C (p.Asp654His) rs1315556709
NM_024422.6(DSC2):c.1960_1961del (p.Arg653_Asp654insTer) rs2144791474
NM_024422.6(DSC2):c.1966C>T (p.Leu656Phe) rs2144791442
NM_024422.6(DSC2):c.1972A>G (p.Met658Val) rs1986842279
NM_024422.6(DSC2):c.1978del (p.Ser660fs) rs1986841708
NM_024422.6(DSC2):c.1984A>G (p.Thr662Ala) rs1986840957
NM_024422.6(DSC2):c.1985del (p.Thr662fs)
NM_024422.6(DSC2):c.1987T>G (p.Ser663Ala)
NM_024422.6(DSC2):c.1994A>G (p.Asp665Gly) rs778236763
NM_024422.6(DSC2):c.2003T>C (p.Leu668Pro) rs1432852100
NM_024422.6(DSC2):c.2014A>G (p.Ile672Val) rs375842356
NM_024422.6(DSC2):c.2033C>T (p.Thr678Ile) rs794728062
NM_024422.6(DSC2):c.2035C>T (p.His679Tyr) rs1567973075
NM_024422.6(DSC2):c.2038C>A (p.Arg680Ser) rs757253682
NM_024422.6(DSC2):c.2038C>T (p.Arg680Cys) rs757253682
NM_024422.6(DSC2):c.2039G>A (p.Arg680His) rs374002111
NM_024422.6(DSC2):c.2046T>A (p.Asp682Glu) rs1161794192
NM_024422.6(DSC2):c.205C>T (p.Pro69Ser) rs1987627721
NM_024422.6(DSC2):c.2096C>T (p.Ala699Val) rs2144790608
NM_024422.6(DSC2):c.2119C>G (p.Leu707Val) rs1986829406
NM_024422.6(DSC2):c.211T>G (p.Phe71Val)
NM_024422.6(DSC2):c.2125+5G>T rs1986828460
NM_024422.6(DSC2):c.2126G>C (p.Cys709Ser) rs145831682
NM_024422.6(DSC2):c.2152G>T (p.Ala718Ser)
NM_024422.6(DSC2):c.2162C>A (p.Thr721Lys) rs759513934
NM_024422.6(DSC2):c.2162del (p.Thr721fs) rs1986800713
NM_024422.6(DSC2):c.217A>G (p.Ile73Val)
NM_024422.6(DSC2):c.2185C>A (p.Pro729Thr) rs1422818892
NM_024422.6(DSC2):c.2218T>C (p.Ser740Pro) rs1555637438
NM_024422.6(DSC2):c.2229A>C (p.Glu743Asp) rs1380094242
NM_024422.6(DSC2):c.2250+1G>A rs1986794200
NM_024422.6(DSC2):c.2254T>C (p.Ser752Pro) rs1986742221
NM_024422.6(DSC2):c.2267T>C (p.Phe756Ser) rs1986741020
NM_024422.6(DSC2):c.2288C>T (p.Ala763Val) rs1986739683
NM_024422.6(DSC2):c.230G>A (p.Gly77Asp) rs761544006
NM_024422.6(DSC2):c.230G>T (p.Gly77Val) rs761544006
NM_024422.6(DSC2):c.2312C>A (p.Thr771Asn) rs2144784219
NM_024422.6(DSC2):c.2312C>T (p.Thr771Ile)
NM_024422.6(DSC2):c.2318G>T (p.Gly773Val) rs749174176
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.2363A>C (p.Lys788Thr) rs1430547540
NM_024422.6(DSC2):c.2369G>A (p.Gly790Glu) rs1555637241
NM_024422.6(DSC2):c.2371C>A (p.His791Asn) rs1789052
NM_024422.6(DSC2):c.2374C>T (p.Gln792Ter) rs1364738194
NM_024422.6(DSC2):c.2384A>T (p.Glu795Val) rs1303375887
NM_024422.6(DSC2):c.2393G>T (p.Arg798Leu) rs61731921
NM_024422.6(DSC2):c.2402G>A (p.Gly801Asp) rs1215462499
NM_024422.6(DSC2):c.245C>A (p.Thr82Lys)
NM_024422.6(DSC2):c.2463C>A (p.Tyr821Ter) rs1567971476
NM_024422.6(DSC2):c.2467dup (p.Tyr823fs)
NM_024422.6(DSC2):c.2530G>C (p.Asp844His) rs2144781408
NM_024422.6(DSC2):c.2548delinsTT (p.Ala850fs) rs794728077
NM_024422.6(DSC2):c.2553del (p.Asp852fs) rs1374904618
NM_024422.6(DSC2):c.2569T>C (p.Tyr857His) rs747396159
NM_024422.6(DSC2):c.2570A>G (p.Tyr857Cys) rs1986692806
NM_024422.6(DSC2):c.2577T>A (p.Tyr859Ter) rs767866098
NM_024422.6(DSC2):c.2582_2585dup (p.Gly863fs) rs780970079
NM_024422.6(DSC2):c.2583_2587dup (p.Gly863fs) rs1986691422
NM_024422.6(DSC2):c.2593G>A (p.Val865Met)
NM_024422.6(DSC2):c.2597C>T (p.Ala866Val) rs760363798
NM_024422.6(DSC2):c.2608G>T (p.Gly870Cys) rs1986689119
NM_024422.6(DSC2):c.2620G>A (p.Glu874Lys) rs1395671324
NM_024422.6(DSC2):c.2621A>G (p.Glu874Gly) rs1986688160
NM_024422.6(DSC2):c.2627A>G (p.Gln876Arg)
NM_024422.6(DSC2):c.2628AGA[2] (p.Glu878del) rs756886183
NM_024422.6(DSC2):c.2638G>A (p.Gly880Arg) rs1986686862
NM_024422.6(DSC2):c.2644G>A (p.Glu882Lys) rs1352394486
NM_024422.6(DSC2):c.2669A>G (p.Lys890Arg) rs2144780681
NM_024422.6(DSC2):c.2684C>G (p.Ala895Gly) rs1986685195
NM_024422.6(DSC2):c.2705G>T (p.Ter902Leu) rs1986683368
NM_024422.6(DSC2):c.301A>G (p.Thr101Ala) rs1372970572
NM_024422.6(DSC2):c.306G>C (p.Glu102Asp)
NM_024422.6(DSC2):c.331G>C (p.Val111Leu) rs1987620497
NM_024422.6(DSC2):c.338del (p.Leu113fs)
NM_024422.6(DSC2):c.367A>G (p.Arg123Gly) rs1987583524
NM_024422.6(DSC2):c.367del (p.Arg123fs) rs2144843571
NM_024422.6(DSC2):c.371A>G (p.His124Arg) rs794728061
NM_024422.6(DSC2):c.374C>A (p.Thr125Asn) rs1987582538
NM_024422.6(DSC2):c.393G>T (p.Arg131Ser) rs987038341
NM_024422.6(DSC2):c.412G>T (p.Ala138Ser) rs1405349273
NM_024422.6(DSC2):c.425G>A (p.Cys142Tyr) rs1478081073
NM_024422.6(DSC2):c.428C>T (p.Ser143Leu) rs769576778
NM_024422.6(DSC2):c.449G>A (p.Gly150Asp) rs1480345392
NM_024422.6(DSC2):c.500A>C (p.Tyr167Ser) rs1987523408
NM_024422.6(DSC2):c.517A>G (p.Ile173Val) rs766855728
NM_024422.6(DSC2):c.548G>A (p.Arg183Gln) rs554713834
NM_024422.6(DSC2):c.562G>A (p.Val188Met)
NM_024422.6(DSC2):c.565G>A (p.Glu189Lys) rs267605148
NM_024422.6(DSC2):c.577_624del (p.Gly193_Ser208del) rs767081975
NM_024422.6(DSC2):c.585G>C (p.Leu195Phe) rs912124448
NM_024422.6(DSC2):c.631-1G>A
NM_024422.6(DSC2):c.647C>T (p.Thr216Ile) rs780448272
NM_024422.6(DSC2):c.660G>T (p.Gly220=)
NM_024422.6(DSC2):c.664A>G (p.Thr222Ala) rs751014965
NM_024422.6(DSC2):c.665C>T (p.Thr222Ile) rs1987453864
NM_024422.6(DSC2):c.667C>T (p.Pro223Ser) rs762722282
NM_024422.6(DSC2):c.676C>T (p.Pro226Ser) rs1987453023
NM_024422.6(DSC2):c.696A>G (p.Lys232=)
NM_024422.6(DSC2):c.715_728dup (p.Phe243fs) rs759922677
NM_024422.6(DSC2):c.71T>A (p.Ile24Asn) rs2144850570
NM_024422.6(DSC2):c.734A>G (p.Glu245Gly) rs373201722
NM_024422.6(DSC2):c.737A>G (p.Glu246Gly) rs1057524741
NM_024422.6(DSC2):c.744_746delinsCAA (p.Thr249Asn) rs1987447561
NM_024422.6(DSC2):c.752C>A (p.Thr251Lys) rs1987446781
NM_024422.6(DSC2):c.76A>T (p.Ile26Leu)
NM_024422.6(DSC2):c.776-13dup rs1987414584
NM_024422.6(DSC2):c.778A>G (p.Thr260Ala) rs2144830965
NM_024422.6(DSC2):c.797G>A (p.Cys266Tyr) rs1987413579
NM_024422.6(DSC2):c.799G>C (p.Ala267Pro) rs966660258
NM_024422.6(DSC2):c.802A>C (p.Thr268Pro) rs201015785
NM_024422.6(DSC2):c.824C>A (p.Thr275Lys) rs397517404
NM_024422.6(DSC2):c.836G>T (p.Arg279Leu)
NM_024422.6(DSC2):c.860A>G (p.Gln287Arg) rs748657811
NM_024422.6(DSC2):c.869C>A (p.Pro290Gln) rs753579789
NM_024422.6(DSC2):c.875C>A (p.Pro292His)
NM_024422.6(DSC2):c.88G>A (p.Asp30Asn) rs1987673824
NM_024422.6(DSC2):c.895C>T (p.Pro299Ser) rs1987406167
NM_024422.6(DSC2):c.902C>T (p.Thr301Ile) rs1213134766
NM_024422.6(DSC2):c.942+3A>G
NM_024422.6(DSC2):c.942+4A>T rs2144830120
NM_024422.6(DSC2):c.942+6A>G
NM_024422.6(DSC2):c.942G>A (p.Glu314=)
NM_024422.6(DSC2):c.946A>T (p.Ile316Phe) rs1233598092
NM_024422.6(DSC2):c.951_952delinsTT (p.Lys318Ter)
NM_024422.6(DSC2):c.959del (p.Gln320fs) rs1987282253
NM_024422.6(DSC2):c.985G>A (p.Asp329Asn) rs1987280682

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