ClinVar Miner

List of variants studied for severe combined immunodeficiency due to DCLRE1C deficiency by Natera, Inc.

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 81
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HGVS dbSNP gnomAD frequency
NM_001033855.3(DCLRE1C):c.959C>G (p.Ser320Cys) rs41298896 0.01123
NM_001033855.3(DCLRE1C):c.227G>C (p.Arg76Thr) rs41296438 0.00869
NM_001033855.3(DCLRE1C):c.36A>C (p.Pro12=) rs148108773 0.00113
NM_001033855.3(DCLRE1C):c.985T>A (p.Leu329Met) rs41299658 0.00071
NM_001033855.3(DCLRE1C):c.1287G>C (p.Leu429=) rs115081573 0.00016
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.420G>A (p.Ala140=) rs146832860 0.00015
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.1670C>T (p.Thr557Ile) rs750692726 0.00010
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.593C>T (p.Pro198Leu) rs772391197 0.00006
NM_001033855.3(DCLRE1C):c.1408C>A (p.Gln470Lys) rs750104684 0.00005
NM_001033855.3(DCLRE1C):c.1381G>A (p.Glu461Lys) rs746552030 0.00004
NM_001033855.3(DCLRE1C):c.1491T>C (p.Asp497=) rs114767681 0.00004
NM_001033855.3(DCLRE1C):c.1800T>C (p.Asp600=) rs199619187 0.00004
NM_001033855.3(DCLRE1C):c.1865C>T (p.Thr622Ile) rs759929745 0.00004
NM_001033855.3(DCLRE1C):c.261C>A (p.Ile87=) rs191086777 0.00004
NM_001033855.3(DCLRE1C):c.265A>G (p.Thr89Ala) rs756366535 0.00004
NM_001033855.3(DCLRE1C):c.484G>A (p.Val162Ile) rs754602932 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.1317G>C (p.Glu439Asp) rs755790137 0.00003
NM_001033855.3(DCLRE1C):c.247A>C (p.Ile83Leu) rs746658739 0.00003
NM_001033855.3(DCLRE1C):c.572G>A (p.Arg191Gln) rs528699445 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.1078C>T (p.Arg360Trp) rs748164114 0.00002
NM_001033855.3(DCLRE1C):c.1195A>G (p.Ile399Val) rs759039414 0.00002
NM_001033855.3(DCLRE1C):c.1224G>A (p.Pro408=) rs532892332 0.00002
NM_001033855.3(DCLRE1C):c.1709T>G (p.Ile570Ser) rs769187936 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.686T>C (p.Val229Ala) rs756395955 0.00002
NM_001033855.3(DCLRE1C):c.1057G>A (p.Glu353Lys) rs541855040 0.00001
NM_001033855.3(DCLRE1C):c.1261G>A (p.Val421Ile) rs770043960 0.00001
NM_001033855.3(DCLRE1C):c.1388T>C (p.Val463Ala) rs1564366143 0.00001
NM_001033855.3(DCLRE1C):c.1510T>C (p.Leu504=) rs1213911811 0.00001
NM_001033855.3(DCLRE1C):c.1692G>C (p.Glu564Asp) rs767573884 0.00001
NM_001033855.3(DCLRE1C):c.1737A>T (p.Arg579Ser) rs749263367 0.00001
NM_001033855.3(DCLRE1C):c.1747A>C (p.Lys583Gln) rs1368413064 0.00001
NM_001033855.3(DCLRE1C):c.1783G>A (p.Val595Ile) rs1270446904 0.00001
NM_001033855.3(DCLRE1C):c.1867A>G (p.Thr623Ala) rs1328876117 0.00001
NM_001033855.3(DCLRE1C):c.1887T>C (p.His629=) rs749159797 0.00001
NM_001033855.3(DCLRE1C):c.1903A>T (p.Ser635Cys) rs1051813612 0.00001
NM_001033855.3(DCLRE1C):c.1914T>C (p.Asn638=) rs1564362421 0.00001
NM_001033855.3(DCLRE1C):c.2045T>A (p.Val682Asp) rs1033877372 0.00001
NM_001033855.3(DCLRE1C):c.251C>G (p.Ser84Cys) rs747849702 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.780+5G>A rs1392493001 0.00001
NM_001033855.3(DCLRE1C):c.799T>C (p.Trp267Arg) rs748507317 0.00001
NM_001033855.3(DCLRE1C):c.1031T>C (p.Val344Ala) rs769742765
NM_001033855.3(DCLRE1C):c.1161_1163del rs1437681771
NM_001033855.3(DCLRE1C):c.1303T>C (p.Cys435Arg) rs921819288
NM_001033855.3(DCLRE1C):c.1340C>T (p.Thr447Ile) rs80148779
NM_001033855.3(DCLRE1C):c.1350_1356del (p.Asp451fs) rs786200884
NM_001033855.3(DCLRE1C):c.13G>C (p.Glu5Gln) rs749686038
NM_001033855.3(DCLRE1C):c.1455T>C (p.Asp485=) rs747435874
NM_001033855.3(DCLRE1C):c.1492G>A (p.Glu498Lys) rs372597855
NM_001033855.3(DCLRE1C):c.1556C>T (p.Pro519Leu) rs542791233
NM_001033855.3(DCLRE1C):c.1743A>G (p.Thr581=) rs750453725
NM_001033855.3(DCLRE1C):c.1789del (p.Cys597fs) rs759377639
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.1963T>C (p.Ser655Pro) rs762670101
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.25G>A (p.Ala9Thr) rs1842835241
NM_001033855.3(DCLRE1C):c.330C>T (p.Leu110=) rs768414966
NM_001033855.3(DCLRE1C):c.406G>A (p.Asp136Asn) rs1839765652
NM_001033855.3(DCLRE1C):c.41T>G (p.Ile14Ser) rs752159513
NM_001033855.3(DCLRE1C):c.597C>A (p.Tyr199Ter) rs121908157
NM_001033855.3(DCLRE1C):c.678+5G>A rs750695358
NM_001033855.3(DCLRE1C):c.905A>C (p.Asn302Thr) rs748516669

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