ClinVar Miner

List of variants reported as uncertain significance for Perlman syndrome by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 551
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HGVS dbSNP
NC_000002.11:g.(?_233028149)_(233028362_?)dup
NC_000002.11:g.(?_233028159)_(233028352_?)dup
NC_000002.11:g.(?_233028159)_(233201350_?)dup
NC_000002.11:g.(?_233028169)_(233028342_?)dup
NC_000002.11:g.(?_233194513)_(233201350_?)dup
NC_000002.11:g.(?_233194517)_(233198703_?)dup
NC_000002.11:g.(?_233198540)_(233201350_?)dup
NC_000002.11:g.(?_233198544)_(233201346_?)dup
NC_000002.11:g.(?_233200473)_(233201350_?)dup
NC_000002.12:g.(?_232014928)_(232300129_?)dup
NC_000002.12:g.(?_232249229)_(232249356_?)del
NC_000002.12:g.(?_232249229)_(232249356_?)dup
NC_000002.12:g.(?_232333830)_(232336630_?)dup
NC_000002.12:g.(?_232333830)_(232336640_?)del
NM_152383.4(DIS3L2):c.1125-6T>G rs764758535
NM_152383.4(DIS3L2):c.1204+4G>A rs1268142936
NM_152383.4(DIS3L2):c.1205-3C>T rs774283939
NM_152383.4(DIS3L2):c.1659+5_1659+7del rs771565872
NM_152383.4(DIS3L2):c.1660-3C>A rs780045314
NM_152383.4(DIS3L2):c.1740-3C>T rs1553550742
NM_152383.4(DIS3L2):c.1740G>T (p.Lys580Asn) rs555184370
NM_152383.4(DIS3L2):c.1748A>G (p.Glu583Gly) rs1559216105
NM_152383.4(DIS3L2):c.1756A>G (p.Met586Val) rs1224235194
NM_152383.4(DIS3L2):c.1769A>G (p.Asn590Ser) rs774192220
NM_152383.4(DIS3L2):c.1774G>T (p.Ala592Ser) rs183714146
NM_152383.4(DIS3L2):c.1775C>T (p.Ala592Val) rs753955550
NM_152383.4(DIS3L2):c.1795C>T (p.Arg599Cys) rs370448481
NM_152383.4(DIS3L2):c.1796G>A (p.Arg599His) rs752010322
NM_152383.4(DIS3L2):c.1804C>G (p.Pro602Ala) rs1553550758
NM_152383.4(DIS3L2):c.1807G>A (p.Glu603Lys) rs779500558
NM_152383.4(DIS3L2):c.1923+3G>A rs763148451
NM_152383.4(DIS3L2):c.1924-3T>C rs768575329
NM_152383.4(DIS3L2):c.2011-4G>T rs767597086
NM_152383.4(DIS3L2):c.2158+3G>A rs1302355159
NM_152383.4(DIS3L2):c.2290-5del rs1553551847
NM_152383.4(DIS3L2):c.2394+5G>A rs1489037110
NM_152383.4(DIS3L2):c.264+3A>G rs1574819848
NM_152383.4(DIS3L2):c.916_950+7dup rs1574902603
NM_152383.4(DIS3L2):c.950+5G>T rs1574902664
NM_152383.4(DIS3L2):c.951-6C>G rs1322713450
NM_152383.5(DIS3L2):c.1009C>A (p.Leu337Ile)
NM_152383.5(DIS3L2):c.1009_1011dup (p.Leu337dup)
NM_152383.5(DIS3L2):c.101A>C (p.Asp34Ala)
NM_152383.5(DIS3L2):c.1024G>A (p.Val342Met)
NM_152383.5(DIS3L2):c.1027_1035GATTTCTCT[1] (p.343_345DFS[1])
NM_152383.5(DIS3L2):c.1033T>C (p.Ser345Pro) rs373488862
NM_152383.5(DIS3L2):c.1042T>C (p.Ser348Pro)
NM_152383.5(DIS3L2):c.104A>G (p.Lys35Arg)
NM_152383.5(DIS3L2):c.1057G>A (p.Glu353Lys)
NM_152383.5(DIS3L2):c.1073G>A (p.Gly358Asp)
NM_152383.5(DIS3L2):c.1084A>G (p.Thr362Ala) rs1047265933
NM_152383.5(DIS3L2):c.1085C>A (p.Thr362Lys) rs762225594
NM_152383.5(DIS3L2):c.1087A>G (p.Ile363Val) rs540563766
NM_152383.5(DIS3L2):c.1087A>T (p.Ile363Phe)
NM_152383.5(DIS3L2):c.1090C>G (p.Pro364Ala) rs1574918541
NM_152383.5(DIS3L2):c.1093C>A (p.Pro365Thr)
NM_152383.5(DIS3L2):c.1097A>C (p.Glu366Ala) rs765929142
NM_152383.5(DIS3L2):c.1099G>A (p.Glu367Lys) rs1574918564
NM_152383.5(DIS3L2):c.10C>A (p.Pro4Thr)
NM_152383.5(DIS3L2):c.1112G>T (p.Arg371Ile)
NM_152383.5(DIS3L2):c.1115G>C (p.Arg372Thr) rs1553612391
NM_152383.5(DIS3L2):c.1126A>G (p.Lys376Glu) rs1559156477
NM_152383.5(DIS3L2):c.1135A>G (p.Ile379Val) rs775307020
NM_152383.5(DIS3L2):c.1159G>A (p.Ala387Thr) rs760452178
NM_152383.5(DIS3L2):c.115A>G (p.Asn39Asp) rs1376481654
NM_152383.5(DIS3L2):c.1163G>A (p.Arg388Gln) rs754008215
NM_152383.5(DIS3L2):c.1171G>A (p.Asp391Asn) rs778983008
NM_152383.5(DIS3L2):c.1178C>T (p.Ala393Val) rs1574947701
NM_152383.5(DIS3L2):c.1188C>T (p.Cys396=) rs145607185
NM_152383.5(DIS3L2):c.118A>G (p.Arg40Gly) rs1574812741
NM_152383.5(DIS3L2):c.1192C>T (p.Pro398Ser) rs1559156534
NM_152383.5(DIS3L2):c.1198G>A (p.Ala400Thr) rs1342000775
NM_152383.5(DIS3L2):c.119G>A (p.Arg40Lys)
NM_152383.5(DIS3L2):c.1204G>A (p.Gly402Ser) rs374886454
NM_152383.5(DIS3L2):c.1205-6T>G
NM_152383.5(DIS3L2):c.1208A>G (p.Asn403Ser)
NM_152383.5(DIS3L2):c.1214A>G (p.Lys405Arg)
NM_152383.5(DIS3L2):c.1217T>C (p.Val406Ala)
NM_152383.5(DIS3L2):c.1237G>A (p.Val413Met) rs1553539253
NM_152383.5(DIS3L2):c.1237G>T (p.Val413Leu) rs1553539253
NM_152383.5(DIS3L2):c.1253C>T (p.Pro418Leu)
NM_152383.5(DIS3L2):c.1254G>A (p.Pro418=) rs764213505
NM_152383.5(DIS3L2):c.1258G>A (p.Gly420Arg) rs752118757
NM_152383.5(DIS3L2):c.1261T>A (p.Ser421Thr)
NM_152383.5(DIS3L2):c.1271A>C (p.Asp424Ala)
NM_152383.5(DIS3L2):c.1277T>G (p.Val426Gly) rs1553539258
NM_152383.5(DIS3L2):c.127C>G (p.Arg43Gly)
NM_152383.5(DIS3L2):c.1282G>T (p.Ala428Ser)
NM_152383.5(DIS3L2):c.1285G>A (p.Glu429Lys) rs750852437
NM_152383.5(DIS3L2):c.128G>A (p.Arg43Gln) rs767837521
NM_152383.5(DIS3L2):c.128G>T (p.Arg43Leu)
NM_152383.5(DIS3L2):c.1294A>G (p.Thr432Ala) rs1553539264
NM_152383.5(DIS3L2):c.1298G>A (p.Ser433Asn) rs1449339410
NM_152383.5(DIS3L2):c.1300G>A (p.Val434Ile) rs758366698
NM_152383.5(DIS3L2):c.1314A>G (p.Gln438=)
NM_152383.5(DIS3L2):c.1318-10C>G
NM_152383.5(DIS3L2):c.1327A>T (p.Met443Leu)
NM_152383.5(DIS3L2):c.1329G>C (p.Met443Ile) rs1466322904
NM_152383.5(DIS3L2):c.1336A>G (p.Arg446Gly)
NM_152383.5(DIS3L2):c.1337G>T (p.Arg446Met) rs369290389
NM_152383.5(DIS3L2):c.1343T>A (p.Leu448Gln) rs1574971457
NM_152383.5(DIS3L2):c.1345T>C (p.Cys449Arg)
NM_152383.5(DIS3L2):c.134A>G (p.Lys45Arg) rs1574812762
NM_152383.5(DIS3L2):c.136A>G (p.Lys46Glu) rs756293168
NM_152383.5(DIS3L2):c.1378G>A (p.Asp460Asn) rs776359062
NM_152383.5(DIS3L2):c.1385T>C (p.Leu462Pro) rs1415584731
NM_152383.5(DIS3L2):c.1390T>C (p.Phe464Leu) rs199879981
NM_152383.5(DIS3L2):c.1391_1393del (p.Phe464del)
NM_152383.5(DIS3L2):c.1396G>A (p.Val466Met)
NM_152383.5(DIS3L2):c.1399A>T (p.Ile467Phe) rs1559174475
NM_152383.5(DIS3L2):c.1401C>G (p.Ile467Met) rs767658588
NM_152383.5(DIS3L2):c.1406C>T (p.Thr469Ile) rs369229385
NM_152383.5(DIS3L2):c.1408C>G (p.Leu470Val) rs1226156033
NM_152383.5(DIS3L2):c.140A>G (p.Lys47Arg)
NM_152383.5(DIS3L2):c.1418A>G (p.Glu473Gly) rs766892626
NM_152383.5(DIS3L2):c.141G>T (p.Lys47Asn) rs766516846
NM_152383.5(DIS3L2):c.1426A>G (p.Ile476Val)
NM_152383.5(DIS3L2):c.1429C>T (p.Leu477Phe) rs1060503031
NM_152383.5(DIS3L2):c.1430T>G (p.Leu477Arg) rs201719374
NM_152383.5(DIS3L2):c.1432G>A (p.Asp478Asn)
NM_152383.5(DIS3L2):c.1433A>G (p.Asp478Gly)
NM_152383.5(DIS3L2):c.1447C>T (p.Arg483Trp) rs186865544
NM_152383.5(DIS3L2):c.1459C>A (p.Arg487Ser)
NM_152383.5(DIS3L2):c.1459C>T (p.Arg487Cys)
NM_152383.5(DIS3L2):c.1460G>A (p.Arg487His)
NM_152383.5(DIS3L2):c.1462T>C (p.Ser488Pro)
NM_152383.5(DIS3L2):c.1468A>G (p.Thr490Ala)
NM_152383.5(DIS3L2):c.1472A>G (p.Lys491Arg) rs776040852
NM_152383.5(DIS3L2):c.1483G>A (p.Glu495Lys) rs376140965
NM_152383.5(DIS3L2):c.1492C>A (p.Gln498Lys)
NM_152383.5(DIS3L2):c.1495A>G (p.Ser499Gly)
NM_152383.5(DIS3L2):c.1501A>T (p.Ile501Phe) rs1060503036
NM_152383.5(DIS3L2):c.1502T>C (p.Ile501Thr) rs1060503027
NM_152383.5(DIS3L2):c.1507A>T (p.Ser503Cys) rs1388343144
NM_152383.5(DIS3L2):c.1525C>T (p.Pro509Ser) rs191662777
NM_152383.5(DIS3L2):c.1529C>A (p.Ala510Glu)
NM_152383.5(DIS3L2):c.1529C>G (p.Ala510Gly) rs377321022
NM_152383.5(DIS3L2):c.1529C>T (p.Ala510Val)
NM_152383.5(DIS3L2):c.1540C>T (p.Pro514Ser) rs1463177673
NM_152383.5(DIS3L2):c.1541C>G (p.Pro514Arg)
NM_152383.5(DIS3L2):c.1543C>G (p.Pro515Ala) rs538188509
NM_152383.5(DIS3L2):c.1544C>G (p.Pro515Arg)
NM_152383.5(DIS3L2):c.1544C>T (p.Pro515Leu) rs756176597
NM_152383.5(DIS3L2):c.1546A>G (p.Ile516Val)
NM_152383.5(DIS3L2):c.1546A>T (p.Ile516Phe) rs183901077
NM_152383.5(DIS3L2):c.1553C>T (p.Pro518Leu)
NM_152383.5(DIS3L2):c.1556A>C (p.Glu519Ala)
NM_152383.5(DIS3L2):c.1564A>G (p.Ser522Gly) rs199980393
NM_152383.5(DIS3L2):c.1566C>G (p.Ser522Arg) rs374299868
NM_152383.5(DIS3L2):c.1567G>A (p.Glu523Lys) rs745936781
NM_152383.5(DIS3L2):c.1577A>G (p.His526Arg) rs749646487
NM_152383.5(DIS3L2):c.1582G>A (p.Ala528Thr)
NM_152383.5(DIS3L2):c.1585G>A (p.Val529Ile) rs773893129
NM_152383.5(DIS3L2):c.1597C>A (p.His533Asn) rs372209368
NM_152383.5(DIS3L2):c.1600G>A (p.Gly534Arg) rs375517001
NM_152383.5(DIS3L2):c.1609A>C (p.Lys537Gln)
NM_152383.5(DIS3L2):c.1609A>G (p.Lys537Glu) rs954655897
NM_152383.5(DIS3L2):c.160A>G (p.Met54Val)
NM_152383.5(DIS3L2):c.1618C>A (p.Arg540Ser)
NM_152383.5(DIS3L2):c.1618C>T (p.Arg540Cys) rs573031156
NM_152383.5(DIS3L2):c.1619G>T (p.Arg540Leu)
NM_152383.5(DIS3L2):c.1627C>T (p.Arg543Cys) rs757555204
NM_152383.5(DIS3L2):c.1628G>A (p.Arg543His) rs1018058365
NM_152383.5(DIS3L2):c.1639G>A (p.Gly547Ser)
NM_152383.5(DIS3L2):c.1641C>T (p.Gly547=) rs762905765
NM_152383.5(DIS3L2):c.1648C>T (p.Arg550Cys) rs745989142
NM_152383.5(DIS3L2):c.1649G>A (p.Arg550His) rs566287761
NM_152383.5(DIS3L2):c.164C>A (p.Ser55Tyr) rs1439183614
NM_152383.5(DIS3L2):c.164C>T (p.Ser55Phe)
NM_152383.5(DIS3L2):c.1656T>A (p.Asp552Glu) rs1553541570
NM_152383.5(DIS3L2):c.1659+5del
NM_152383.5(DIS3L2):c.1675A>C (p.Thr559Pro) rs755569735
NM_152383.5(DIS3L2):c.167A>G (p.Lys56Arg) rs1377112032
NM_152383.5(DIS3L2):c.1684C>T (p.His562Tyr) rs748574652
NM_152383.5(DIS3L2):c.1687G>A (p.Glu563Lys)
NM_152383.5(DIS3L2):c.1693G>A (p.Gly565Arg) rs770702636
NM_152383.5(DIS3L2):c.1695A>T (p.Gly565=) rs961617765
NM_152383.5(DIS3L2):c.1699C>T (p.Pro567Ser) rs868601542
NM_152383.5(DIS3L2):c.1703A>G (p.Gln568Arg) rs1296826867
NM_152383.5(DIS3L2):c.1712A>T (p.His571Leu) rs1438379709
NM_152383.5(DIS3L2):c.1721A>C (p.Glu574Ala) rs1553546491
NM_152383.5(DIS3L2):c.1721A>G (p.Glu574Gly) rs1553546491
NM_152383.5(DIS3L2):c.1722G>T (p.Glu574Asp) rs191608083
NM_152383.5(DIS3L2):c.1724A>T (p.Tyr575Phe)
NM_152383.5(DIS3L2):c.1726C>T (p.Arg576Cys) rs374385308
NM_152383.5(DIS3L2):c.1727G>A (p.Arg576His) rs200386096
NM_152383.5(DIS3L2):c.1727_1728delinsCA (p.Arg576Pro) rs1553546498
NM_152383.5(DIS3L2):c.1728C>T (p.Arg576=) rs763819831
NM_152383.5(DIS3L2):c.1729G>A (p.Glu577Lys) rs750651562
NM_152383.5(DIS3L2):c.172G>C (p.Asp58His) rs1000963300
NM_152383.5(DIS3L2):c.172_173delinsCT (p.Asp58Leu) rs1574812832
NM_152383.5(DIS3L2):c.1731G>C (p.Glu577Asp)
NM_152383.5(DIS3L2):c.1736A>G (p.Asn579Ser)
NM_152383.5(DIS3L2):c.173A>G (p.Asp58Gly)
NM_152383.5(DIS3L2):c.1744G>A (p.Val582Met)
NM_152383.5(DIS3L2):c.1773G>C (p.Met591Ile)
NM_152383.5(DIS3L2):c.1784A>C (p.His595Pro)
NM_152383.5(DIS3L2):c.1792C>T (p.His598Tyr)
NM_152383.5(DIS3L2):c.1798G>A (p.Ala600Thr)
NM_152383.5(DIS3L2):c.17A>G (p.Tyr6Cys)
NM_152383.5(DIS3L2):c.1817T>C (p.Leu606Pro)
NM_152383.5(DIS3L2):c.1825C>T (p.Arg609Trp) rs370822831
NM_152383.5(DIS3L2):c.1826G>A (p.Arg609Gln) rs774228906
NM_152383.5(DIS3L2):c.1831C>T (p.Pro611Ser)
NM_152383.5(DIS3L2):c.1832C>G (p.Pro611Arg)
NM_152383.5(DIS3L2):c.1832C>T (p.Pro611Leu)
NM_152383.5(DIS3L2):c.1835C>T (p.Pro612Leu) rs771703300
NM_152383.5(DIS3L2):c.1844C>G (p.Thr615Arg)
NM_152383.5(DIS3L2):c.1848G>T (p.Arg616Ser) rs763093753
NM_152383.5(DIS3L2):c.1849A>G (p.Met617Val)
NM_152383.5(DIS3L2):c.1851G>C (p.Met617Ile) rs1421901591
NM_152383.5(DIS3L2):c.1855A>G (p.Ser619Gly) rs764730412
NM_152383.5(DIS3L2):c.1862T>C (p.Leu621Pro) rs772312903
NM_152383.5(DIS3L2):c.1864G>A (p.Val622Met)
NM_152383.5(DIS3L2):c.1876G>A (p.Asp626Asn) rs374482102
NM_152383.5(DIS3L2):c.1888C>G (p.Leu630Val)
NM_152383.5(DIS3L2):c.1894G>A (p.Val632Met) rs754433044
NM_152383.5(DIS3L2):c.1903A>G (p.Ser635Gly)
NM_152383.5(DIS3L2):c.1907C>T (p.Ser636Phe) rs1575023446
NM_152383.5(DIS3L2):c.1909G>A (p.Ala637Thr) rs543360422
NM_152383.5(DIS3L2):c.1909G>T (p.Ala637Ser)
NM_152383.5(DIS3L2):c.1913G>A (p.Gly638Glu) rs772936274
NM_152383.5(DIS3L2):c.1915G>A (p.Ala639Thr) rs762363254
NM_152383.5(DIS3L2):c.1915G>C (p.Ala639Pro) rs762363254
NM_152383.5(DIS3L2):c.1922A>G (p.Asn641Ser) rs769948942
NM_152383.5(DIS3L2):c.1923T>A (p.Asn641Lys)
NM_152383.5(DIS3L2):c.1923T>C (p.Asn641=) rs775814377
NM_152383.5(DIS3L2):c.1934C>T (p.Thr645Ile)
NM_152383.5(DIS3L2):c.1945G>A (p.Gly649Arg) rs1274927583
NM_152383.5(DIS3L2):c.1952A>G (p.Asp651Gly)
NM_152383.5(DIS3L2):c.1954A>G (p.Lys652Glu) rs1553550922
NM_152383.5(DIS3L2):c.1956G>C (p.Lys652Asn)
NM_152383.5(DIS3L2):c.1969C>T (p.Arg657Cys) rs113330536
NM_152383.5(DIS3L2):c.1970G>A (p.Arg657His)
NM_152383.5(DIS3L2):c.1970G>T (p.Arg657Leu)
NM_152383.5(DIS3L2):c.1978G>A (p.Val660Met) rs1575024070
NM_152383.5(DIS3L2):c.1978G>T (p.Val660Leu)
NM_152383.5(DIS3L2):c.1989C>A (p.Asn663Lys) rs748211963
NM_152383.5(DIS3L2):c.1991T>A (p.Met664Lys) rs1553550935
NM_152383.5(DIS3L2):c.1994G>A (p.Cys665Tyr) rs778990530
NM_152383.5(DIS3L2):c.1A>T (p.Met1Leu) rs754758868
NM_152383.5(DIS3L2):c.2000G>A (p.Arg667Gln) rs1060503034
NM_152383.5(DIS3L2):c.2005A>G (p.Met669Val) rs1553550940
NM_152383.5(DIS3L2):c.2011A>G (p.Met671Val) rs1553551554
NM_152383.5(DIS3L2):c.2013G>A (p.Met671Ile) rs528954242
NM_152383.5(DIS3L2):c.2020T>C (p.Tyr674His) rs1559219089
NM_152383.5(DIS3L2):c.2026T>C (p.Cys676Arg)
NM_152383.5(DIS3L2):c.2030C>T (p.Ser677Leu) rs753558985
NM_152383.5(DIS3L2):c.2031G>A (p.Ser677=) rs370261055
NM_152383.5(DIS3L2):c.2036T>C (p.Leu679Pro) rs777508887
NM_152383.5(DIS3L2):c.2051C>T (p.Ala684Val) rs781674022
NM_152383.5(DIS3L2):c.2059C>T (p.Arg687Trp) rs372762400
NM_152383.5(DIS3L2):c.2060G>A (p.Arg687Gln) rs749596505
NM_152383.5(DIS3L2):c.2065T>C (p.Tyr689His) rs1060503039
NM_152383.5(DIS3L2):c.2066A>G (p.Tyr689Cys) rs1575027255
NM_152383.5(DIS3L2):c.2068G>A (p.Ala690Thr) rs916866725
NM_152383.5(DIS3L2):c.2076T>G (p.Asn692Lys) rs767082193
NM_152383.5(DIS3L2):c.2077G>A (p.Val693Met) rs1553551585
NM_152383.5(DIS3L2):c.2078T>C (p.Val693Ala) rs1559219168
NM_152383.5(DIS3L2):c.2080C>T (p.Pro694Ser) rs886055771
NM_152383.5(DIS3L2):c.2096T>A (p.Phe699Tyr)
NM_152383.5(DIS3L2):c.209A>G (p.Gln70Arg)
NM_152383.5(DIS3L2):c.210G>C (p.Gln70His) rs1236280328
NM_152383.5(DIS3L2):c.211-8T>G
NM_152383.5(DIS3L2):c.2119G>A (p.Ala707Thr) rs1575027328
NM_152383.5(DIS3L2):c.2125G>A (p.Val709Ile) rs199537907
NM_152383.5(DIS3L2):c.2125G>C (p.Val709Leu) rs199537907
NM_152383.5(DIS3L2):c.2136C>A (p.His712Gln) rs566391334
NM_152383.5(DIS3L2):c.2137C>T (p.Arg713Cys) rs756694951
NM_152383.5(DIS3L2):c.2149G>A (p.Ala717Thr)
NM_152383.5(DIS3L2):c.2152G>A (p.Ala718Thr) rs745957922
NM_152383.5(DIS3L2):c.2158G>C (p.Gly720Arg) rs1575027390
NM_152383.5(DIS3L2):c.2162A>G (p.Tyr721Cys) rs371864654
NM_152383.5(DIS3L2):c.2167G>A (p.Glu723Lys) rs767760081
NM_152383.5(DIS3L2):c.2171G>A (p.Arg724Gln) rs760824995
NM_152383.5(DIS3L2):c.2178C>A (p.Asp726Glu)
NM_152383.5(DIS3L2):c.2179A>G (p.Met727Val) rs1060503030
NM_152383.5(DIS3L2):c.2181G>A (p.Met727Ile) rs1553551756
NM_152383.5(DIS3L2):c.2183C>T (p.Ala728Val) rs753952840
NM_152383.5(DIS3L2):c.2188G>A (p.Asp730Asn)
NM_152383.5(DIS3L2):c.218T>G (p.Leu73Trp) rs867217314
NM_152383.5(DIS3L2):c.2192C>A (p.Thr731Asn) rs1553551762
NM_152383.5(DIS3L2):c.2194C>G (p.Leu732Val) rs1215542783
NM_152383.5(DIS3L2):c.2204A>G (p.Gln735Arg) rs746574719
NM_152383.5(DIS3L2):c.2207C>T (p.Ala736Val) rs780625125
NM_152383.5(DIS3L2):c.2210A>G (p.Asp737Gly) rs769764733
NM_152383.5(DIS3L2):c.2212C>G (p.His738Asp) rs1553551779
NM_152383.5(DIS3L2):c.2214C>G (p.His738Gln)
NM_152383.5(DIS3L2):c.221G>A (p.Arg74Lys)
NM_152383.5(DIS3L2):c.2224C>T (p.Arg742Cys)
NM_152383.5(DIS3L2):c.2227C>T (p.Arg743Cys) rs765865656
NM_152383.5(DIS3L2):c.2228G>A (p.Arg743His)
NM_152383.5(DIS3L2):c.2229C>T (p.Arg743=) rs1350662445
NM_152383.5(DIS3L2):c.222A>C (p.Arg74Ser) rs1553601861
NM_152383.5(DIS3L2):c.2232G>A (p.Met744Ile)
NM_152383.5(DIS3L2):c.2233G>A (p.Ala745Thr) rs758837060
NM_152383.5(DIS3L2):c.2234C>T (p.Ala745Val) rs764432869
NM_152383.5(DIS3L2):c.2240A>G (p.Lys747Arg)
NM_152383.5(DIS3L2):c.2242C>T (p.Arg748Cys) rs372560799
NM_152383.5(DIS3L2):c.2243_2248delinsACATGA (p.Arg748_Gln750delinsHisMetLys) rs1553551794
NM_152383.5(DIS3L2):c.2245G>A (p.Val749Met) rs755574750
NM_152383.5(DIS3L2):c.2248C>G (p.Gln750Glu)
NM_152383.5(DIS3L2):c.2251G>A (p.Glu751Lys)
NM_152383.5(DIS3L2):c.2254C>T (p.Leu752Phe) rs1559219861
NM_152383.5(DIS3L2):c.2257A>G (p.Ser753Gly)
NM_152383.5(DIS3L2):c.2261C>T (p.Thr754Ile)
NM_152383.5(DIS3L2):c.2266C>G (p.Leu756Val) rs1226765433
NM_152383.5(DIS3L2):c.2269T>C (p.Phe757Leu) rs1298748971
NM_152383.5(DIS3L2):c.2271C>G (p.Phe757Leu)
NM_152383.5(DIS3L2):c.2277_2278inv (p.Val760Ile)
NM_152383.5(DIS3L2):c.227A>T (p.Asn76Ile)
NM_152383.5(DIS3L2):c.2294G>A (p.Ser765Asn)
NM_152383.5(DIS3L2):c.2300C>T (p.Pro767Leu)
NM_152383.5(DIS3L2):c.2309C>T (p.Ser770Leu) rs1553551852
NM_152383.5(DIS3L2):c.2311G>A (p.Glu771Lys)
NM_152383.5(DIS3L2):c.2319_2320delinsCT (p.Met773_Val774delinsIleLeu)
NM_152383.5(DIS3L2):c.2323A>G (p.Met775Val)
NM_152383.5(DIS3L2):c.2329A>G (p.Ile777Val) rs2697798
NM_152383.5(DIS3L2):c.2338C>G (p.Gln780Glu)
NM_152383.5(DIS3L2):c.2350G>A (p.Val784Met)
NM_152383.5(DIS3L2):c.2356G>A (p.Val786Met) rs569638131
NM_152383.5(DIS3L2):c.2356G>T (p.Val786Leu) rs569638131
NM_152383.5(DIS3L2):c.2357_2377delinsGACGCCGT (p.Val786fs) rs1575028192
NM_152383.5(DIS3L2):c.2362C>T (p.Arg788Cys) rs777778396
NM_152383.5(DIS3L2):c.2363G>A (p.Arg788His) rs370149214
NM_152383.5(DIS3L2):c.2368G>A (p.Gly790Ser) rs367835194
NM_152383.5(DIS3L2):c.2371G>A (p.Val791Met) rs374080052
NM_152383.5(DIS3L2):c.2375A>G (p.Gln792Arg)
NM_152383.5(DIS3L2):c.2380C>T (p.Arg794Cys)
NM_152383.5(DIS3L2):c.2381G>A (p.Arg794His) rs368280072
NM_152383.5(DIS3L2):c.2394+5G>C
NM_152383.5(DIS3L2):c.2394C>T (p.Asn798=) rs773602107
NM_152383.5(DIS3L2):c.2395G>T (p.Ala799Ser) rs1575029253
NM_152383.5(DIS3L2):c.2401G>A (p.Ala801Thr) rs1359847466
NM_152383.5(DIS3L2):c.2402C>A (p.Ala801Asp) rs1425676194
NM_152383.5(DIS3L2):c.2407C>T (p.Arg803Trp) rs866926882
NM_152383.5(DIS3L2):c.2408G>A (p.Arg803Gln) rs764157950
NM_152383.5(DIS3L2):c.2413C>T (p.His805Tyr) rs1302423283
NM_152383.5(DIS3L2):c.2417_2418del (p.His806fs) rs1559220906
NM_152383.5(DIS3L2):c.2421C>G (p.Phe807Leu) rs757128931
NM_152383.5(DIS3L2):c.2425A>C (p.Lys809Gln) rs1060503032
NM_152383.5(DIS3L2):c.2425_2427del (p.Lys809del) rs1575029287
NM_152383.5(DIS3L2):c.2426A>G (p.Lys809Arg) rs775531488
NM_152383.5(DIS3L2):c.2428G>A (p.Val810Met) rs1553552092
NM_152383.5(DIS3L2):c.2441C>T (p.Pro814Leu) rs750177609
NM_152383.5(DIS3L2):c.2450C>T (p.Thr817Met) rs376816858
NM_152383.5(DIS3L2):c.2455G>A (p.Val819Ile) rs891931139
NM_152383.5(DIS3L2):c.2476G>C (p.Glu826Gln) rs201189209
NM_152383.5(DIS3L2):c.2485C>T (p.Pro829Ser) rs1275058351
NM_152383.5(DIS3L2):c.248C>A (p.Ala83Asp)
NM_152383.5(DIS3L2):c.248C>G (p.Ala83Gly)
NM_152383.5(DIS3L2):c.248C>T (p.Ala83Val)
NM_152383.5(DIS3L2):c.2496+5G>T
NM_152383.5(DIS3L2):c.2500A>G (p.Ile834Val) rs1445610742
NM_152383.5(DIS3L2):c.2503A>G (p.Thr835Ala) rs1060503035
NM_152383.5(DIS3L2):c.2504C>G (p.Thr835Ser) rs1559221632
NM_152383.5(DIS3L2):c.2518G>A (p.Val840Met) rs776460855
NM_152383.5(DIS3L2):c.2533C>G (p.Gln845Glu)
NM_152383.5(DIS3L2):c.2537C>T (p.Ala846Val)
NM_152383.5(DIS3L2):c.2539G>C (p.Glu847Gln) rs759280088
NM_152383.5(DIS3L2):c.2540A>G (p.Glu847Gly)
NM_152383.5(DIS3L2):c.2548G>A (p.Ala850Thr)
NM_152383.5(DIS3L2):c.2551C>T (p.Leu851Phe) rs1060503033
NM_152383.5(DIS3L2):c.2551_2565del (p.Leu851_Ala855del)
NM_152383.5(DIS3L2):c.2556G>C (p.Lys852Asn) rs1575030076
NM_152383.5(DIS3L2):c.2560A>G (p.Ser854Gly) rs774490217
NM_152383.5(DIS3L2):c.2560A>T (p.Ser854Cys) rs774490217
NM_152383.5(DIS3L2):c.2563G>A (p.Ala855Thr) rs547016377
NM_152383.5(DIS3L2):c.2576G>A (p.Arg859Gln)
NM_152383.5(DIS3L2):c.2576G>C (p.Arg859Pro) rs570999208
NM_152383.5(DIS3L2):c.2585C>T (p.Thr862Ile) rs778725551
NM_152383.5(DIS3L2):c.2587C>T (p.Gln863Ter)
NM_152383.5(DIS3L2):c.2588A>G (p.Gln863Arg) rs777191235
NM_152383.5(DIS3L2):c.2588_2591dup (p.His865fs)
NM_152383.5(DIS3L2):c.2590G>A (p.Gly864Ser) rs1487969643
NM_152383.5(DIS3L2):c.2591G>A (p.Gly864Asp) rs746507960
NM_152383.5(DIS3L2):c.2593C>T (p.His865Tyr) rs1559221737
NM_152383.5(DIS3L2):c.2605G>A (p.Glu869Lys) rs369664231
NM_152383.5(DIS3L2):c.2608A>G (p.Lys870Glu) rs775252407
NM_152383.5(DIS3L2):c.2608_2610del (p.Lys870del) rs779485524
NM_152383.5(DIS3L2):c.2608_2613del (p.Lys870_Glu871del)
NM_152383.5(DIS3L2):c.2611_2613GAG[3] (p.Glu874del) rs745307654
NM_152383.5(DIS3L2):c.2611_2613GAG[5] (p.Glu874dup) rs745307654
NM_152383.5(DIS3L2):c.2612A>T (p.Glu871Val)
NM_152383.5(DIS3L2):c.2620_2621inv (p.Glu874Ser)
NM_152383.5(DIS3L2):c.2620del (p.Glu874fs)
NM_152383.5(DIS3L2):c.2622_2642dup (p.Glu874_Glu880dup)
NM_152383.5(DIS3L2):c.2629G>A (p.Gly877Ser)
NM_152383.5(DIS3L2):c.2629G>C (p.Gly877Arg) rs765768186
NM_152383.5(DIS3L2):c.2629G>T (p.Gly877Cys)
NM_152383.5(DIS3L2):c.262C>T (p.Pro88Ser)
NM_152383.5(DIS3L2):c.2630G>A (p.Gly877Asp) rs753076827
NM_152383.5(DIS3L2):c.2635C>A (p.Pro879Thr)
NM_152383.5(DIS3L2):c.2635C>G (p.Pro879Ala)
NM_152383.5(DIS3L2):c.2638G>A (p.Glu880Lys) rs756721316
NM_152383.5(DIS3L2):c.264+4A>T
NM_152383.5(DIS3L2):c.2649C>G (p.Ser883Arg) rs1553552367
NM_152383.5(DIS3L2):c.264G>A (p.Pro88=)
NM_152383.5(DIS3L2):c.2653A>C (p.Ser885Arg)
NM_152383.5(DIS3L2):c.2653A>G (p.Ser885Gly)
NM_152383.5(DIS3L2):c.2654G>A (p.Ser885Asn)
NM_152383.5(DIS3L2):c.2656T>G (p.Ter886Gly)
NM_152383.5(DIS3L2):c.275G>A (p.Arg92Gln)
NM_152383.5(DIS3L2):c.275G>T (p.Arg92Leu)
NM_152383.5(DIS3L2):c.280A>G (p.Ile94Val) rs776938907
NM_152383.5(DIS3L2):c.286A>G (p.Ile96Val) rs1409634191
NM_152383.5(DIS3L2):c.301G>T (p.Ala101Ser) rs199857926
NM_152383.5(DIS3L2):c.304C>A (p.Arg102Ser)
NM_152383.5(DIS3L2):c.305G>A (p.Arg102His) rs372013568
NM_152383.5(DIS3L2):c.305G>C (p.Arg102Pro) rs372013568
NM_152383.5(DIS3L2):c.311G>C (p.Arg104Thr)
NM_152383.5(DIS3L2):c.317T>C (p.Leu106Ser)
NM_152383.5(DIS3L2):c.31C>T (p.Arg11Trp) rs751777329
NM_152383.5(DIS3L2):c.324G>T (p.Gly108=)
NM_152383.5(DIS3L2):c.327T>A (p.Asp109Glu) rs1559555044
NM_152383.5(DIS3L2):c.32G>A (p.Arg11Gln) rs1574812165
NM_152383.5(DIS3L2):c.331G>A (p.Val111Met)
NM_152383.5(DIS3L2):c.337G>A (p.Val113Met)
NM_152383.5(DIS3L2):c.337G>C (p.Val113Leu)
NM_152383.5(DIS3L2):c.33_34delinsAA (p.Pro12Thr) rs1559542257
NM_152383.5(DIS3L2):c.352G>A (p.Glu118Lys) rs754512238
NM_152383.5(DIS3L2):c.371T>C (p.Val124Ala) rs1017898352
NM_152383.5(DIS3L2):c.376C>T (p.Pro126Ser) rs1553606103
NM_152383.5(DIS3L2):c.383G>A (p.Ser128Asn) rs371686606
NM_152383.5(DIS3L2):c.386A>G (p.Asn129Ser) rs1253191108
NM_152383.5(DIS3L2):c.388G>A (p.Asp130Asn)
NM_152383.5(DIS3L2):c.397A>G (p.Thr133Ala)
NM_152383.5(DIS3L2):c.406G>C (p.Ala136Pro)
NM_152383.5(DIS3L2):c.407C>T (p.Ala136Val) rs752699253
NM_152383.5(DIS3L2):c.416C>T (p.Ser139Leu)
NM_152383.5(DIS3L2):c.418G>T (p.Asp140Tyr) rs751372232
NM_152383.5(DIS3L2):c.419A>G (p.Asp140Gly) rs367831290
NM_152383.5(DIS3L2):c.424C>A (p.Pro142Thr) rs878855227
NM_152383.5(DIS3L2):c.427G>A (p.Glu143Lys)
NM_152383.5(DIS3L2):c.43A>G (p.Thr15Ala) rs1559542316
NM_152383.5(DIS3L2):c.440G>A (p.Gly147Glu)
NM_152383.5(DIS3L2):c.443A>G (p.His148Arg)
NM_152383.5(DIS3L2):c.461C>T (p.Ser154Phe) rs937249326
NM_152383.5(DIS3L2):c.466A>G (p.Lys156Glu)
NM_152383.5(DIS3L2):c.469A>G (p.Ser157Gly) rs1553606121
NM_152383.5(DIS3L2):c.46C>A (p.Pro16Thr)
NM_152383.5(DIS3L2):c.476A>G (p.Asn159Ser)
NM_152383.5(DIS3L2):c.47C>A (p.Pro16His)
NM_152383.5(DIS3L2):c.47C>G (p.Pro16Arg)
NM_152383.5(DIS3L2):c.484C>A (p.Pro162Thr) rs1478569468
NM_152383.5(DIS3L2):c.485C>T (p.Pro162Leu) rs773744387
NM_152383.5(DIS3L2):c.491_514del (p.Val164_Asp171del) rs1553606124
NM_152383.5(DIS3L2):c.49A>G (p.Arg17Gly) rs1574812219
NM_152383.5(DIS3L2):c.500A>G (p.Glu167Gly)
NM_152383.5(DIS3L2):c.502G>T (p.Ala168Ser) rs1553606126
NM_152383.5(DIS3L2):c.520G>A (p.Asp174Asn) rs752325182
NM_152383.5(DIS3L2):c.524C>T (p.Ser175Leu) rs1559615265
NM_152383.5(DIS3L2):c.525_527AGA[3] (p.Glu176dup)
NM_152383.5(DIS3L2):c.526G>A (p.Glu176Lys)
NM_152383.5(DIS3L2):c.52G>A (p.Gly18Ser)
NM_152383.5(DIS3L2):c.539G>A (p.Gly180Asp)
NM_152383.5(DIS3L2):c.540C>T (p.Gly180=) rs369500890
NM_152383.5(DIS3L2):c.542T>C (p.Ile181Thr) rs1060503029
NM_152383.5(DIS3L2):c.544A>G (p.Thr182Ala)
NM_152383.5(DIS3L2):c.549A>C (p.Gln183His)
NM_152383.5(DIS3L2):c.551A>G (p.Asn184Ser)
NM_152383.5(DIS3L2):c.563A>T (p.Asp188Val) rs1553606133
NM_152383.5(DIS3L2):c.565G>A (p.Gly189Ser) rs1553606137
NM_152383.5(DIS3L2):c.566G>C (p.Gly189Ala) rs755258805
NM_152383.5(DIS3L2):c.566G>T (p.Gly189Val) rs755258805
NM_152383.5(DIS3L2):c.579C>G (p.Leu193=)
NM_152383.5(DIS3L2):c.581C>T (p.Ser194Leu)
NM_152383.5(DIS3L2):c.587G>A (p.Cys196Tyr) rs1559615449
NM_152383.5(DIS3L2):c.594T>A (p.Ser198=) rs1189527107
NM_152383.5(DIS3L2):c.598A>G (p.Lys200Glu)
NM_152383.5(DIS3L2):c.607G>C (p.Glu203Gln) rs761214979
NM_152383.5(DIS3L2):c.610G>A (p.Asp204Asn)
NM_152383.5(DIS3L2):c.616G>A (p.Asp206Asn)
NM_152383.5(DIS3L2):c.619G>A (p.Ala207Thr)
NM_152383.5(DIS3L2):c.620C>T (p.Ala207Val) rs1553609835
NM_152383.5(DIS3L2):c.623C>A (p.Pro208Gln) rs1022276697
NM_152383.5(DIS3L2):c.623C>T (p.Pro208Leu) rs1022276697
NM_152383.5(DIS3L2):c.635A>G (p.Asp212Gly)
NM_152383.5(DIS3L2):c.636T>G (p.Asp212Glu)
NM_152383.5(DIS3L2):c.639G>T (p.Glu213Asp) rs1553609842
NM_152383.5(DIS3L2):c.647G>A (p.Cys216Tyr)
NM_152383.5(DIS3L2):c.649A>G (p.Ile217Val)
NM_152383.5(DIS3L2):c.64G>C (p.Val22Leu) rs183463487
NM_152383.5(DIS3L2):c.658G>A (p.Asp220Asn)
NM_152383.5(DIS3L2):c.666A>C (p.Arg222Ser) rs751721861
NM_152383.5(DIS3L2):c.674C>T (p.Ser225Leu) rs201453807
NM_152383.5(DIS3L2):c.67G>A (p.Ala23Thr)
NM_152383.5(DIS3L2):c.67G>C (p.Ala23Pro) rs886288172
NM_152383.5(DIS3L2):c.685C>G (p.Leu229Val) rs73003124
NM_152383.5(DIS3L2):c.695C>T (p.Ser232Leu) rs747734015
NM_152383.5(DIS3L2):c.700A>G (p.Lys234Glu) rs1574898215
NM_152383.5(DIS3L2):c.705G>A (p.Val235=)
NM_152383.5(DIS3L2):c.712A>G (p.Ile238Val) rs774656238
NM_152383.5(DIS3L2):c.726A>T (p.Lys242Asn)
NM_152383.5(DIS3L2):c.742A>G (p.Thr248Ala) rs766947723
NM_152383.5(DIS3L2):c.745G>A (p.Gly249Ser)
NM_152383.5(DIS3L2):c.750C>G (p.Phe250Leu)
NM_152383.5(DIS3L2):c.758T>G (p.Leu253Arg)
NM_152383.5(DIS3L2):c.763G>A (p.Ala255Thr) rs770321098
NM_152383.5(DIS3L2):c.767A>G (p.Asp256Gly)
NM_152383.5(DIS3L2):c.777C>A (p.Ser259Arg) rs375649949
NM_152383.5(DIS3L2):c.777C>G (p.Ser259Arg) rs375649949
NM_152383.5(DIS3L2):c.778G>A (p.Glu260Lys) rs775360586
NM_152383.5(DIS3L2):c.786T>A (p.Phe262Leu) rs1033352725
NM_152383.5(DIS3L2):c.796G>A (p.Ala266Thr)
NM_152383.5(DIS3L2):c.796G>T (p.Ala266Ser)
NM_152383.5(DIS3L2):c.799C>G (p.Leu267Val)
NM_152383.5(DIS3L2):c.79G>C (p.Asp27His) rs780747005
NM_152383.5(DIS3L2):c.815A>G (p.Asp272Gly)
NM_152383.5(DIS3L2):c.821G>A (p.Arg274Gln) rs1482350666
NM_152383.5(DIS3L2):c.823G>A (p.Val275Met)
NM_152383.5(DIS3L2):c.826C>T (p.Pro276Ser)
NM_152383.5(DIS3L2):c.829A>G (p.Arg277Gly)
NM_152383.5(DIS3L2):c.830G>A (p.Arg277Lys) rs1574902498
NM_152383.5(DIS3L2):c.838G>C (p.Val280Leu)
NM_152383.5(DIS3L2):c.83T>C (p.Ile28Thr)
NM_152383.5(DIS3L2):c.849G>A (p.Lys283=) rs376763206
NM_152383.5(DIS3L2):c.854G>A (p.Cys285Tyr) rs1574902516
NM_152383.5(DIS3L2):c.85G>C (p.Gly29Arg) rs779277888
NM_152383.5(DIS3L2):c.860A>C (p.Gln287Pro) rs1574902537
NM_152383.5(DIS3L2):c.86G>A (p.Gly29Asp) rs369080386
NM_152383.5(DIS3L2):c.86G>T (p.Gly29Val) rs369080386
NM_152383.5(DIS3L2):c.871G>A (p.Ala291Thr) rs753115829
NM_152383.5(DIS3L2):c.871G>C (p.Ala291Pro) rs753115829
NM_152383.5(DIS3L2):c.874C>T (p.Arg292Trp) rs182004457
NM_152383.5(DIS3L2):c.875G>T (p.Arg292Leu)
NM_152383.5(DIS3L2):c.880A>G (p.Lys294Glu) rs570981537
NM_152383.5(DIS3L2):c.884A>G (p.Asp295Gly)
NM_152383.5(DIS3L2):c.905T>A (p.Ile302Asn) rs1268735648
NM_152383.5(DIS3L2):c.910C>T (p.Arg304Cys) rs149157216
NM_152383.5(DIS3L2):c.911G>A (p.Arg304His)
NM_152383.5(DIS3L2):c.911G>C (p.Arg304Pro)
NM_152383.5(DIS3L2):c.916G>A (p.Val306Met)
NM_152383.5(DIS3L2):c.919G>C (p.Asp307His) rs780127954
NM_152383.5(DIS3L2):c.926A>G (p.Lys309Arg)
NM_152383.5(DIS3L2):c.927_929GGA[1] (p.Glu310del) rs1574902623
NM_152383.5(DIS3L2):c.928G>A (p.Glu310Lys) rs1276016923
NM_152383.5(DIS3L2):c.92C>T (p.Ser31Leu) rs901797759
NM_152383.5(DIS3L2):c.933C>G (p.Asp311Glu) rs1359411191
NM_152383.5(DIS3L2):c.938A>G (p.Asn313Ser) rs768529345
NM_152383.5(DIS3L2):c.943G>A (p.Ala315Thr)
NM_152383.5(DIS3L2):c.943G>T (p.Ala315Ser) rs773590340
NM_152383.5(DIS3L2):c.953A>G (p.Gln318Arg) rs1060503038
NM_152383.5(DIS3L2):c.958G>T (p.Ala320Ser)
NM_152383.5(DIS3L2):c.961A>G (p.Lys321Glu) rs375508407
NM_152383.5(DIS3L2):c.964A>G (p.Ser322Gly) rs752637406
NM_152383.5(DIS3L2):c.965G>T (p.Ser322Ile) rs1553612374
NM_152383.5(DIS3L2):c.973C>A (p.Gln325Lys) rs1209057640
NM_152383.5(DIS3L2):c.97G>C (p.Gly33Arg)
NM_152383.5(DIS3L2):c.980G>C (p.Gly327Ala)
NM_152383.5(DIS3L2):c.994G>C (p.Glu332Gln) rs916060836

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