ClinVar Miner

List of variants studied for Severe combined immunodeficiency due to DCLRE1C deficiency by ClinGen Severe Combined Immunodeficiency Variant Curation Expert Panel, ClinGen

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Total variants: 90
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HGVS dbSNP gnomAD frequency
NM_001033855.3(DCLRE1C):c.728A>G (p.His243Arg) rs12768894 0.14770
NM_001033855.3(DCLRE1C):c.512C>G (p.Pro171Arg) rs35441642 0.09351
NM_001033855.3(DCLRE1C):c.959C>G (p.Ser320Cys) rs41298896 0.01123
NM_001033855.3(DCLRE1C):c.457G>A (p.Gly153Arg) rs41297018 0.00940
NM_001033855.3(DCLRE1C):c.227G>C (p.Arg76Thr) rs41296438 0.00789
NM_001033855.3(DCLRE1C):c.1284A>C (p.Lys428Asn) rs113870881 0.00202
NM_001033855.3(DCLRE1C):c.556G>C (p.Val186Leu) rs141448396 0.00059
NM_001033855.3(DCLRE1C):c.419C>T (p.Ala140Val) rs41297016 0.00054
NM_001033855.3(DCLRE1C):c.1791C>T (p.Cys597=) rs115421695 0.00048
NM_001033855.3(DCLRE1C):c.973-1801T>A rs557886549 0.00027
NM_001033855.3(DCLRE1C):c.1894G>A (p.Glu632Lys) rs61757205 0.00024
NM_001033855.3(DCLRE1C):c.169G>T (p.Val57Phe) rs138077101 0.00016
NM_001033855.3(DCLRE1C):c.212C>T (p.Thr71Met) rs147013097 0.00015
NM_001033855.3(DCLRE1C):c.1334G>A (p.Arg445His) rs376186052 0.00014
NM_001033855.3(DCLRE1C):c.550A>T (p.Ser184Cys) rs373675907 0.00010
NM_001033855.3(DCLRE1C):c.590G>A (p.Ser197Asn) rs773799685 0.00009
NM_001033855.3(DCLRE1C):c.526A>G (p.Ile176Val) rs182977883 0.00006
NM_001033855.3(DCLRE1C):c.593C>T (p.Pro198Leu) rs772391197 0.00006
NM_001033855.3(DCLRE1C):c.1991G>A (p.Arg664Gln) rs779159378 0.00004
NM_001033855.3(DCLRE1C):c.241C>T (p.Arg81Ter) rs121908156 0.00004
NM_001033855.3(DCLRE1C):c.587G>A (p.Arg196Gln) rs760897653 0.00004
NM_001033855.3(DCLRE1C):c.109+1G>T rs143144732 0.00003
NM_001033855.3(DCLRE1C):c.131C>A (p.Ala44Asp) rs770015010 0.00003
NM_001033855.3(DCLRE1C):c.247A>C (p.Ile83Leu) rs746658739 0.00003
NM_001033855.3(DCLRE1C):c.265A>G (p.Thr89Ala) rs756366535 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.484G>A (p.Val162Ile) rs754602932 0.00003
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.103C>G (p.His35Asp) rs121908159 0.00001
NM_001033855.3(DCLRE1C):c.106A>G (p.Lys36Glu) rs761990097 0.00001
NM_001033855.3(DCLRE1C):c.1147C>T (p.Arg383Ter) rs752241422 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.262G>A (p.Glu88Lys) rs753976764 0.00001
NM_001033855.3(DCLRE1C):c.291T>C (p.Asp97=) rs1840574128 0.00001
NM_001033855.3(DCLRE1C):c.2T>C (p.Met1Thr) rs121908158 0.00001
NM_001033855.3(DCLRE1C):c.315G>C (p.Glu105Asp) rs1477434785 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.47T>C (p.Ile16Thr) rs1317003987 0.00001
NM_001033855.3(DCLRE1C):c.554G>A (p.Gly185Glu) rs1336396486 0.00001
NM_001033855.3(DCLRE1C):c.572G>A (p.Arg191Gln) rs528699445 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.97C>T (p.His33Tyr) rs1842826599 0.00001
NM_001033855.3(DCLRE1C):c.137C>T (p.Thr46Ile) rs1168701627
NM_001033855.3(DCLRE1C):c.13G>C (p.Glu5Gln) rs749686038
NM_001033855.3(DCLRE1C):c.140T>A (p.Leu47Ter) rs2492399920
NM_001033855.3(DCLRE1C):c.161+2T>G rs2492399115
NM_001033855.3(DCLRE1C):c.1669dup (p.Thr557fs) rs886037924
NM_001033855.3(DCLRE1C):c.17G>A (p.Gly6Glu) rs2131239353
NM_001033855.3(DCLRE1C):c.180C>A (p.Tyr60Ter) rs2131108640
NM_001033855.3(DCLRE1C):c.181T>C (p.Cys61Arg) rs1589136760
NM_001033855.3(DCLRE1C):c.194C>T (p.Thr65Ile) rs886037925
NM_001033855.3(DCLRE1C):c.206T>A (p.Leu69Ter) rs1589136659
NM_001033855.3(DCLRE1C):c.242G>A (p.Arg81Gln) rs772627259
NM_001033855.3(DCLRE1C):c.247-1G>C rs2131027668
NM_001033855.3(DCLRE1C):c.247A>G (p.Ile83Val) rs746658739
NM_001033855.3(DCLRE1C):c.24G>A (p.Met8Ile) rs2492513237
NM_001033855.3(DCLRE1C):c.25G>A (p.Ala9Thr) rs1842835241
NM_001033855.3(DCLRE1C):c.276G>C (p.Gln92His) rs1840576379
NM_001033855.3(DCLRE1C):c.310G>A (p.Glu104Lys) rs2492078995
NM_001033855.3(DCLRE1C):c.319G>A (p.Val107Ile) rs772530008
NM_001033855.3(DCLRE1C):c.346T>C (p.Cys116Arg) rs2492076708
NM_001033855.3(DCLRE1C):c.34C>T (p.Pro12Ser) rs2492513024
NM_001033855.3(DCLRE1C):c.352G>T (p.Gly118Ter) rs1839957089
NM_001033855.3(DCLRE1C):c.356C>G (p.Ser119Ter) rs781123663
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.470A>C (p.Lys157Thr) rs1839624547
NM_001033855.3(DCLRE1C):c.490T>G (p.Leu164Val) rs1279014555
NM_001033855.3(DCLRE1C):c.509A>G (p.Asp170Gly) rs2492028777
NM_001033855.3(DCLRE1C):c.50A>G (p.Asp17Gly) rs1842831150
NM_001033855.3(DCLRE1C):c.522C>G (p.Tyr174Ter) rs1340132582
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.571C>T (p.Arg191Ter) rs752655158
NM_001033855.3(DCLRE1C):c.57C>A (p.Phe19Leu) rs1457686297
NM_001033855.3(DCLRE1C):c.597C>A (p.Tyr199Ter) rs121908157
NM_001033855.3(DCLRE1C):c.634T>A (p.Tyr212Asn) rs1839556682
NM_001033855.3(DCLRE1C):c.82G>C (p.Ala28Pro) rs773046452
NM_001033855.3(DCLRE1C):c.95C>G (p.Ser32Cys) rs969498121
NM_001033855.3(DCLRE1C):c.95C>T (p.Ser32Phe) rs969498121

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