ClinVar Miner

List of variants reported as uncertain significance for Severe combined immunodeficiency due to DCLRE1C deficiency by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 269
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HGVS dbSNP gnomAD frequency
NM_001033855.3(DCLRE1C):c.985T>A (p.Leu329Met) rs41299658 0.00071
NM_001033855.3(DCLRE1C):c.419C>T (p.Ala140Val) rs41297016 0.00056
NM_001033855.3(DCLRE1C):c.1733A>G (p.Tyr578Cys) rs778823769 0.00033
NM_001033855.3(DCLRE1C):c.1967C>T (p.Thr656Ile) rs141357439 0.00028
NM_001033855.3(DCLRE1C):c.1670C>T (p.Thr557Ile) rs750692726 0.00016
NM_001033855.3(DCLRE1C):c.1828A>G (p.Lys610Glu) rs575678692 0.00015
NM_001033855.3(DCLRE1C):c.212C>T (p.Thr71Met) rs147013097 0.00015
NM_001033855.3(DCLRE1C):c.1595T>G (p.Ile532Ser) rs769134680 0.00012
NM_001033855.3(DCLRE1C):c.1990C>T (p.Arg664Ter) rs200693133 0.00012
NM_001033855.3(DCLRE1C):c.1952T>C (p.Phe651Ser) rs144641461 0.00011
NM_001033855.3(DCLRE1C):c.746G>A (p.Arg249His) rs374838779 0.00011
NM_001033855.3(DCLRE1C):c.536G>A (p.Arg179Gln) rs150854849 0.00009
NM_001033855.3(DCLRE1C):c.590G>A (p.Ser197Asn) rs773799685 0.00009
NM_001033855.3(DCLRE1C):c.550A>T (p.Ser184Cys) rs373675907 0.00007
NM_001033855.3(DCLRE1C):c.1078C>T (p.Arg360Trp) rs748164114 0.00006
NM_001033855.3(DCLRE1C):c.1385A>T (p.Glu462Val) rs115250914 0.00006
NM_001033855.3(DCLRE1C):c.1627A>G (p.Ile543Val) rs777250271 0.00006
NM_001033855.3(DCLRE1C):c.587G>A (p.Arg196Gln) rs760897653 0.00006
NM_001033855.3(DCLRE1C):c.593C>T (p.Pro198Leu) rs772391197 0.00006
NM_001033855.3(DCLRE1C):c.678+5G>T rs750695358 0.00006
NM_001033855.3(DCLRE1C):c.1408C>A (p.Gln470Lys) rs750104684 0.00005
NM_001033855.3(DCLRE1C):c.745C>T (p.Arg249Cys) rs757474059 0.00005
NM_001033855.3(DCLRE1C):c.1381G>A (p.Glu461Lys) rs746552030 0.00004
NM_001033855.3(DCLRE1C):c.1865C>T (p.Thr622Ile) rs759929745 0.00004
NM_001033855.3(DCLRE1C):c.1991G>A (p.Arg664Gln) rs779159378 0.00004
NM_001033855.3(DCLRE1C):c.2039T>C (p.Ile680Thr) rs140602902 0.00004
NM_001033855.3(DCLRE1C):c.265A>G (p.Thr89Ala) rs756366535 0.00004
NM_001033855.3(DCLRE1C):c.380A>G (p.Asn127Ser) rs752558172 0.00004
NM_001033855.3(DCLRE1C):c.484G>A (p.Val162Ile) rs754602932 0.00004
NM_001033855.3(DCLRE1C):c.500C>T (p.Thr167Met) rs149556109 0.00004
NM_001033855.3(DCLRE1C):c.1261G>A (p.Val421Ile) rs770043960 0.00003
NM_001033855.3(DCLRE1C):c.1317G>C (p.Glu439Asp) rs755790137 0.00003
NM_001033855.3(DCLRE1C):c.1883C>G (p.Thr628Arg) rs140306936 0.00003
NM_001033855.3(DCLRE1C):c.247A>C (p.Ile83Leu) rs746658739 0.00003
NM_001033855.3(DCLRE1C):c.281C>A (p.Ser94Tyr) rs762266339 0.00003
NM_001033855.3(DCLRE1C):c.423A>C (p.Gln141His) rs143949881 0.00003
NM_001033855.3(DCLRE1C):c.572G>A (p.Arg191Gln) rs528699445 0.00003
NM_001033855.3(DCLRE1C):c.737C>T (p.Thr246Ile) rs374596045 0.00003
NM_001033855.3(DCLRE1C):c.780+4C>T rs769782951 0.00003
NM_001033855.3(DCLRE1C):c.1024A>G (p.Ile342Val) rs759789901 0.00002
NM_001033855.3(DCLRE1C):c.1048A>G (p.Lys350Glu) rs146859738 0.00002
NM_001033855.3(DCLRE1C):c.1079G>A (p.Arg360Gln) rs377694988 0.00002
NM_001033855.3(DCLRE1C):c.1195A>G (p.Ile399Val) rs759039414 0.00002
NM_001033855.3(DCLRE1C):c.1288A>G (p.Arg430Gly) rs1459486949 0.00002
NM_001033855.3(DCLRE1C):c.1313C>T (p.Ala438Val) rs766009897 0.00002
NM_001033855.3(DCLRE1C):c.1333C>T (p.Arg445Cys) rs774273800 0.00002
NM_001033855.3(DCLRE1C):c.1565T>C (p.Phe522Ser) rs1482857000 0.00002
NM_001033855.3(DCLRE1C):c.1709T>G (p.Ile570Ser) rs769187936 0.00002
NM_001033855.3(DCLRE1C):c.1834G>A (p.Val612Met) rs751811224 0.00002
NM_001033855.3(DCLRE1C):c.2029G>A (p.Gly677Ser) rs754829084 0.00002
NM_001033855.3(DCLRE1C):c.350C>T (p.Pro117Leu) rs757316102 0.00002
NM_001033855.3(DCLRE1C):c.589A>G (p.Ser197Gly) rs1252776122 0.00002
NM_001033855.3(DCLRE1C):c.632G>C (p.Gly211Ala) rs1056674146 0.00002
NM_001033855.3(DCLRE1C):c.686T>C (p.Val229Ala) rs756395955 0.00002
NM_001033855.3(DCLRE1C):c.1052T>C (p.Val351Ala) rs1046572671 0.00001
NM_001033855.3(DCLRE1C):c.1057G>A (p.Glu353Lys) rs541855040 0.00001
NM_001033855.3(DCLRE1C):c.1060A>C (p.Ile354Leu) rs556578962 0.00001
NM_001033855.3(DCLRE1C):c.1223C>T (p.Pro408Leu) rs772982087 0.00001
NM_001033855.3(DCLRE1C):c.1265C>T (p.Ser422Leu) rs1354336544 0.00001
NM_001033855.3(DCLRE1C):c.1388T>C (p.Val463Ala) rs1564366143 0.00001
NM_001033855.3(DCLRE1C):c.1445C>A (p.Ala482Asp) rs1834801118 0.00001
NM_001033855.3(DCLRE1C):c.1616A>G (p.Gln539Arg) rs1331013284 0.00001
NM_001033855.3(DCLRE1C):c.1672G>A (p.Val558Ile) rs1834759314 0.00001
NM_001033855.3(DCLRE1C):c.1692G>C (p.Glu564Asp) rs767573884 0.00001
NM_001033855.3(DCLRE1C):c.1694G>T (p.Arg565Ile) rs1834755037 0.00001
NM_001033855.3(DCLRE1C):c.1737A>T (p.Arg579Ser) rs749263367 0.00001
NM_001033855.3(DCLRE1C):c.1739C>T (p.Pro580Leu) rs780103215 0.00001
NM_001033855.3(DCLRE1C):c.1747A>C (p.Lys583Gln) rs1368413064 0.00001
NM_001033855.3(DCLRE1C):c.1771A>G (p.Met591Val) rs751968783 0.00001
NM_001033855.3(DCLRE1C):c.1783G>A (p.Val595Ile) rs1270446904 0.00001
NM_001033855.3(DCLRE1C):c.1795A>G (p.Lys599Glu) rs760292491 0.00001
NM_001033855.3(DCLRE1C):c.1798G>C (p.Asp600His) rs772593258 0.00001
NM_001033855.3(DCLRE1C):c.1867A>G (p.Thr623Ala) rs1328876117 0.00001
NM_001033855.3(DCLRE1C):c.1885C>T (p.His629Tyr) rs768407082 0.00001
NM_001033855.3(DCLRE1C):c.1903A>T (p.Ser635Cys) rs1051813612 0.00001
NM_001033855.3(DCLRE1C):c.1964C>T (p.Ser655Leu) rs775156782 0.00001
NM_001033855.3(DCLRE1C):c.2038A>T (p.Ile680Leu) rs764886664 0.00001
NM_001033855.3(DCLRE1C):c.2041G>C (p.Ala681Pro) rs151259511 0.00001
NM_001033855.3(DCLRE1C):c.2045T>A (p.Val682Asp) rs1033877372 0.00001
NM_001033855.3(DCLRE1C):c.245T>C (p.Ile82Thr) rs748686886 0.00001
NM_001033855.3(DCLRE1C):c.251C>G (p.Ser84Cys) rs747849702 0.00001
NM_001033855.3(DCLRE1C):c.315G>C (p.Glu105Asp) rs1477434785 0.00001
NM_001033855.3(DCLRE1C):c.340G>A (p.Gly114Ser) rs1443020418 0.00001
NM_001033855.3(DCLRE1C):c.436A>G (p.Arg146Gly) rs756583993 0.00001
NM_001033855.3(DCLRE1C):c.475A>T (p.Ile159Phe) rs757929355 0.00001
NM_001033855.3(DCLRE1C):c.554G>A (p.Gly185Glu) rs1336396486 0.00001
NM_001033855.3(DCLRE1C):c.586C>T (p.Arg196Trp) rs766699328 0.00001
NM_001033855.3(DCLRE1C):c.614A>T (p.Asn205Ile) rs762532423 0.00001
NM_001033855.3(DCLRE1C):c.623C>T (p.Ala208Val) rs1326360954 0.00001
NM_001033855.3(DCLRE1C):c.662A>G (p.Glu221Gly) rs752880501 0.00001
NM_001033855.3(DCLRE1C):c.679-3T>C rs186192379 0.00001
NM_001033855.3(DCLRE1C):c.780+5G>A rs1392493001 0.00001
NM_001033855.3(DCLRE1C):c.799T>C (p.Trp267Arg) rs748507317 0.00001
NM_001033855.3(DCLRE1C):c.934T>C (p.Tyr312His) rs1470101838 0.00001
NM_001033855.3(DCLRE1C):c.941C>T (p.Ala314Val) rs1838083133 0.00001
NC_000010.10:g.(?_14961717)_(14996009_?)dup
NC_000010.10:g.(?_14976359)_(14996009_?)dup
NC_000010.10:g.(?_14976682)_(14996009_?)dup
NC_000010.10:g.(?_14981789)_(14981888_?)dup
NC_000010.10:g.(?_14981789)_(14996009_?)dup
NC_000010.10:g.(?_14981799)_(14981878_?)del
NC_000010.10:g.(?_14981799)_(14981878_?)dup
NC_000010.10:g.(?_14987084)_(14996009_?)dup
NC_000010.10:g.(?_14987084)_(14996029_?)dup
NC_000010.10:g.(?_14995881)_(14996009_?)dup
NC_000010.11:g.(?_14903611)_(14955432_?)dup
NC_000010.11:g.(?_14939790)_(14954030_?)dup
NM_001033855.3(DCLRE1C):c.1031T>C (p.Val344Ala) rs769742765
NM_001033855.3(DCLRE1C):c.1036A>G (p.Thr346Ala)
NM_001033855.3(DCLRE1C):c.1039A>G (p.Thr347Ala)
NM_001033855.3(DCLRE1C):c.1055T>C (p.Val352Ala) rs752942378
NM_001033855.3(DCLRE1C):c.1058A>G (p.Glu353Gly) rs1837362613
NM_001033855.3(DCLRE1C):c.1067A>C (p.Lys356Thr) rs1836805445
NM_001033855.3(DCLRE1C):c.106A>G (p.Lys36Glu)
NM_001033855.3(DCLRE1C):c.1073T>C (p.Leu358Ser) rs2130743286
NM_001033855.3(DCLRE1C):c.1088A>G (p.Gln363Arg) rs1213080376
NM_001033855.3(DCLRE1C):c.1094C>T (p.Thr365Met)
NM_001033855.3(DCLRE1C):c.1106A>G (p.Tyr369Cys) rs1836798077
NM_001033855.3(DCLRE1C):c.1132G>T (p.Ala378Ser)
NM_001033855.3(DCLRE1C):c.1147C>G (p.Arg383Gly) rs752241422
NM_001033855.3(DCLRE1C):c.1161_1163del rs1437681771
NM_001033855.3(DCLRE1C):c.1174C>G (p.Leu392Val)
NM_001033855.3(DCLRE1C):c.1174C>T (p.Leu392Phe)
NM_001033855.3(DCLRE1C):c.1185T>A (p.Asp395Glu)
NM_001033855.3(DCLRE1C):c.1192C>T (p.Pro398Ser)
NM_001033855.3(DCLRE1C):c.1193C>T (p.Pro398Leu) rs2131780031
NM_001033855.3(DCLRE1C):c.1208A>G (p.His403Arg)
NM_001033855.3(DCLRE1C):c.1212A>T (p.Lys404Asn)
NM_001033855.3(DCLRE1C):c.1219T>C (p.Tyr407His)
NM_001033855.3(DCLRE1C):c.1233T>G (p.Phe411Leu)
NM_001033855.3(DCLRE1C):c.1268A>G (p.Glu423Gly)
NM_001033855.3(DCLRE1C):c.1292A>C (p.Gln431Pro)
NM_001033855.3(DCLRE1C):c.1303T>C (p.Cys435Arg) rs921819288
NM_001033855.3(DCLRE1C):c.131C>A (p.Ala44Asp)
NM_001033855.3(DCLRE1C):c.1323G>A (p.Met441Ile)
NM_001033855.3(DCLRE1C):c.1340C>A (p.Thr447Lys)
NM_001033855.3(DCLRE1C):c.1340C>T (p.Thr447Ile) rs80148779
NM_001033855.3(DCLRE1C):c.1344C>G (p.Asn448Lys) rs769948633
NM_001033855.3(DCLRE1C):c.1363_1383del (p.Ser455_Glu461del)
NM_001033855.3(DCLRE1C):c.1364C>T (p.Ser455Phe) rs1358066992
NM_001033855.3(DCLRE1C):c.1376G>T (p.Ser459Ile) rs747311091
NM_001033855.3(DCLRE1C):c.1395C>G (p.Ile465Met) rs2131777299
NM_001033855.3(DCLRE1C):c.13G>C (p.Glu5Gln) rs749686038
NM_001033855.3(DCLRE1C):c.1427T>C (p.Val476Ala) rs1588894157
NM_001033855.3(DCLRE1C):c.1439A>T (p.Gln480Leu)
NM_001033855.3(DCLRE1C):c.1444G>T (p.Ala482Ser)
NM_001033855.3(DCLRE1C):c.1465T>C (p.Trp489Arg) rs904814123
NM_001033855.3(DCLRE1C):c.1476_1478del (p.Phe493del)
NM_001033855.3(DCLRE1C):c.1492G>A (p.Glu498Lys) rs372597855
NM_001033855.3(DCLRE1C):c.1494A>C (p.Glu498Asp)
NM_001033855.3(DCLRE1C):c.1504G>A (p.Glu502Lys) rs780875686
NM_001033855.3(DCLRE1C):c.1532C>A (p.Thr511Lys) rs1834786005
NM_001033855.3(DCLRE1C):c.1543G>A (p.Gly515Arg)
NM_001033855.3(DCLRE1C):c.1552T>A (p.Ser518Thr)
NM_001033855.3(DCLRE1C):c.1556C>T (p.Pro519Leu) rs542791233
NM_001033855.3(DCLRE1C):c.1560G>C (p.Lys520Asn)
NM_001033855.3(DCLRE1C):c.1583A>G (p.Glu528Gly)
NM_001033855.3(DCLRE1C):c.1588A>G (p.Thr530Ala) rs921962593
NM_001033855.3(DCLRE1C):c.1591C>A (p.His531Asn)
NM_001033855.3(DCLRE1C):c.1604A>G (p.Gln535Arg) rs887381468
NM_001033855.3(DCLRE1C):c.1633G>C (p.Glu545Gln) rs1588892650
NM_001033855.3(DCLRE1C):c.1636C>G (p.Gln546Glu)
NM_001033855.3(DCLRE1C):c.1640G>T (p.Gly547Val)
NM_001033855.3(DCLRE1C):c.1648G>C (p.Gly550Arg) rs1588892551
NM_001033855.3(DCLRE1C):c.1651T>C (p.Trp551Arg) rs779050968
NM_001033855.3(DCLRE1C):c.1670C>A (p.Thr557Asn) rs750692726
NM_001033855.3(DCLRE1C):c.1711A>G (p.Thr571Ala) rs775927361
NM_001033855.3(DCLRE1C):c.1714T>G (p.Ser572Ala) rs770457801
NM_001033855.3(DCLRE1C):c.1756_1757del (p.Ile586fs)
NM_001033855.3(DCLRE1C):c.1769T>C (p.Leu590Pro) rs2131772748
NM_001033855.3(DCLRE1C):c.1773G>A (p.Met591Ile)
NM_001033855.3(DCLRE1C):c.1784dup (p.Ile596fs)
NM_001033855.3(DCLRE1C):c.1789del (p.Cys597fs) rs759377639
NM_001033855.3(DCLRE1C):c.1803_1804dup (p.Tyr602fs)
NM_001033855.3(DCLRE1C):c.1805A>G (p.Tyr602Cys) rs774102624
NM_001033855.3(DCLRE1C):c.181T>C (p.Cys61Arg) rs1589136760
NM_001033855.3(DCLRE1C):c.1820_1821delinsAT (p.Ser607Asn) rs2131771850
NM_001033855.3(DCLRE1C):c.1846C>T (p.Pro616Ser)
NM_001033855.3(DCLRE1C):c.1879G>A (p.Glu627Lys) rs1588890065
NM_001033855.3(DCLRE1C):c.1888A>G (p.Ile630Val) rs2131770710
NM_001033855.3(DCLRE1C):c.1890A>G (p.Ile630Met) rs201350418
NM_001033855.3(DCLRE1C):c.1897del (p.Glu633fs) rs1834703886
NM_001033855.3(DCLRE1C):c.1898A>G (p.Glu633Gly) rs533771936
NM_001033855.3(DCLRE1C):c.1902_1903del (p.Ser635fs) rs760288938
NM_001033855.3(DCLRE1C):c.1906T>A (p.Leu636Met)
NM_001033855.3(DCLRE1C):c.1930G>C (p.Asp644His)
NM_001033855.3(DCLRE1C):c.1936C>T (p.Gln646Ter)
NM_001033855.3(DCLRE1C):c.1954G>A (p.Glu652Lys)
NM_001033855.3(DCLRE1C):c.1955A>G (p.Glu652Gly)
NM_001033855.3(DCLRE1C):c.1957G>T (p.Val653Phe) rs1449940704
NM_001033855.3(DCLRE1C):c.1959del (p.Ser655fs) rs1834692330
NM_001033855.3(DCLRE1C):c.1963T>C (p.Ser655Pro) rs762670101
NM_001033855.3(DCLRE1C):c.1972G>A (p.Glu658Lys)
NM_001033855.3(DCLRE1C):c.1978_1981dup (p.Leu661Ter)
NM_001033855.3(DCLRE1C):c.1979A>G (p.Glu660Gly) rs2131769121
NM_001033855.3(DCLRE1C):c.1985C>T (p.Pro662Leu) rs1554773491
NM_001033855.3(DCLRE1C):c.1988A>C (p.Lys663Thr) rs2131768961
NM_001033855.3(DCLRE1C):c.1996C>G (p.His666Asp) rs1834683814
NM_001033855.3(DCLRE1C):c.2002C>T (p.Gln668Ter) rs1409082603
NM_001033855.3(DCLRE1C):c.2012_2013del (p.Leu670_Tyr671insTer) rs1564361862
NM_001033855.3(DCLRE1C):c.201GTT[2] (p.Leu70del) rs753202682
NM_001033855.3(DCLRE1C):c.2032G>A (p.Glu678Lys)
NM_001033855.3(DCLRE1C):c.2042C>T (p.Ala681Val) rs1834673766
NM_001033855.3(DCLRE1C):c.2047A>C (p.Lys683Gln) rs2131767744
NM_001033855.3(DCLRE1C):c.2050A>T (p.Lys684Ter)
NM_001033855.3(DCLRE1C):c.2050_2053del (p.Lys684fs)
NM_001033855.3(DCLRE1C):c.2053del (p.Arg685fs) rs915913541
NM_001033855.3(DCLRE1C):c.242G>A (p.Arg81Gln)
NM_001033855.3(DCLRE1C):c.247-3T>C
NM_001033855.3(DCLRE1C):c.247A>G (p.Ile83Val) rs746658739
NM_001033855.3(DCLRE1C):c.24G>A (p.Met8Ile)
NM_001033855.3(DCLRE1C):c.25G>A (p.Ala9Thr) rs1842835241
NM_001033855.3(DCLRE1C):c.262G>A (p.Glu88Lys)
NM_001033855.3(DCLRE1C):c.276G>C (p.Gln92His) rs1840576379
NM_001033855.3(DCLRE1C):c.306+5C>T
NM_001033855.3(DCLRE1C):c.319G>A (p.Val107Ile) rs772530008
NM_001033855.3(DCLRE1C):c.331T>A (p.Leu111Ile)
NM_001033855.3(DCLRE1C):c.34C>T (p.Pro12Ser)
NM_001033855.3(DCLRE1C):c.361A>T (p.Met121Leu) rs1839954868
NM_001033855.3(DCLRE1C):c.362+6G>C
NM_001033855.3(DCLRE1C):c.362T>C (p.Met121Thr)
NM_001033855.3(DCLRE1C):c.363G>T (p.Met121Ile) rs1839771032
NM_001033855.3(DCLRE1C):c.406G>A (p.Asp136Asn) rs1839765652
NM_001033855.3(DCLRE1C):c.41T>C (p.Ile14Thr) rs752159513
NM_001033855.3(DCLRE1C):c.41T>G (p.Ile14Ser) rs752159513
NM_001033855.3(DCLRE1C):c.457G>T (p.Gly153Trp) rs41297018
NM_001033855.3(DCLRE1C):c.462C>T (p.Gly154=)
NM_001033855.3(DCLRE1C):c.470A>C (p.Lys157Thr) rs1839624547
NM_001033855.3(DCLRE1C):c.490T>G (p.Leu164Val) rs1279014555
NM_001033855.3(DCLRE1C):c.499A>G (p.Thr167Ala) rs2130943678
NM_001033855.3(DCLRE1C):c.509A>G (p.Asp170Gly)
NM_001033855.3(DCLRE1C):c.50A>G (p.Asp17Gly) rs1842831150
NM_001033855.3(DCLRE1C):c.539A>T (p.Glu180Val) rs1839576830
NM_001033855.3(DCLRE1C):c.53G>A (p.Arg18His) rs1842830903
NM_001033855.3(DCLRE1C):c.564G>T (p.Glu188Asp) rs1468919857
NM_001033855.3(DCLRE1C):c.57C>A (p.Phe19Leu)
NM_001033855.3(DCLRE1C):c.650C>T (p.Thr217Ile)
NM_001033855.3(DCLRE1C):c.671G>A (p.Gly224Glu)
NM_001033855.3(DCLRE1C):c.678+5G>A rs750695358
NM_001033855.3(DCLRE1C):c.699C>A (p.Asp233Glu) rs1163772028
NM_001033855.3(DCLRE1C):c.712A>G (p.Met238Val) rs757591183
NM_001033855.3(DCLRE1C):c.730C>T (p.His244Tyr)
NM_001033855.3(DCLRE1C):c.739A>G (p.Thr247Ala)
NM_001033855.3(DCLRE1C):c.746G>T (p.Arg249Leu)
NM_001033855.3(DCLRE1C):c.752C>G (p.Thr251Ser)
NM_001033855.3(DCLRE1C):c.767G>A (p.Cys256Tyr) rs1839258333
NM_001033855.3(DCLRE1C):c.769C>T (p.Arg257Trp)
NM_001033855.3(DCLRE1C):c.774T>A (p.His258Gln) rs2130916220
NM_001033855.3(DCLRE1C):c.779A>G (p.Lys260Arg) rs1839255605
NM_001033855.3(DCLRE1C):c.780+6T>C
NM_001033855.3(DCLRE1C):c.780+6T>G rs745917460
NM_001033855.3(DCLRE1C):c.803G>A (p.Ser268Asn) rs1838331843
NM_001033855.3(DCLRE1C):c.82G>C (p.Ala28Pro)
NM_001033855.3(DCLRE1C):c.835A>G (p.Arg279Gly)
NM_001033855.3(DCLRE1C):c.850A>G (p.Ile284Val)
NM_001033855.3(DCLRE1C):c.869C>G (p.Ser290Cys) rs1589019320
NM_001033855.3(DCLRE1C):c.901A>C (p.Thr301Pro)
NM_001033855.3(DCLRE1C):c.905A>C (p.Asn302Thr) rs748516669
NM_001033855.3(DCLRE1C):c.918-3T>C rs770226530
NM_001033855.3(DCLRE1C):c.923G>A (p.Gly308Glu) rs746582322
NM_001033855.3(DCLRE1C):c.925G>C (p.Glu309Gln) rs1838087325
NM_001033855.3(DCLRE1C):c.940G>T (p.Ala314Ser)
NM_001033855.3(DCLRE1C):c.95C>G (p.Ser32Cys)
NM_001033855.3(DCLRE1C):c.95C>T (p.Ser32Phe) rs969498121
NM_001033855.3(DCLRE1C):c.967A>T (p.Ser323Cys) rs780156393
NM_001033855.3(DCLRE1C):c.971A>G (p.Glu324Gly) rs1838077116
NM_001033855.3(DCLRE1C):c.97C>T (p.His33Tyr) rs1842826599
NM_001033855.3(DCLRE1C):c.994C>T (p.Leu332Phe) rs1837374235
NM_001033855.3(DCLRE1C):c.995T>G (p.Leu332Arg)

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