ClinVar Miner

List of variants in gene DCLRE1C studied for T-B- severe combined immunodeficiency

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 83
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HGVS dbSNP
DCLRE1C, EX1-4DEL
DCLRE1C, EX5-6DEL
DCLRE1C, EX5-8DEL
NC_000010.10:g.(?_14977442)_(14978612_?)del
NC_000010.10:g.(?_14981789)_(14981888_?)dup
NC_000010.10:g.(?_14981799)_(14987198_?)del
NC_000010.10:g.(?_14987084)_(14987208_?)del
NC_000010.10:g.(?_14987084)_(14996029_?)del
NC_000010.10:g.(?_14987084)_(14996029_?)dup
NM_001033855.3(DCLRE1C):c.1008C>T (p.Asn336=) rs115524993
NM_001033855.3(DCLRE1C):c.1261G>A (p.Val421Ile)
NM_001033855.3(DCLRE1C):c.1284A>C (p.Lys428Asn) rs113870881
NM_001033855.3(DCLRE1C):c.1303T>C (p.Cys435Arg)
NM_001033855.3(DCLRE1C):c.1344C>G (p.Asn448Lys)
NM_001033855.3(DCLRE1C):c.1350_1356del (p.Asp451fs) rs786200884
NM_001033855.3(DCLRE1C):c.1368C>T (p.Asn456=) rs144654282
NM_001033855.3(DCLRE1C):c.1379_1381AAG[2] (p.Glu462del) rs373709012
NM_001033855.3(DCLRE1C):c.1385A>T (p.Glu462Val) rs115250914
NM_001033855.3(DCLRE1C):c.1427T>C (p.Val476Ala)
NM_001033855.3(DCLRE1C):c.1503T>C (p.Asp501=) rs41300670
NM_001033855.3(DCLRE1C):c.1524T>G (p.Pro508=) rs751349938
NM_001033855.3(DCLRE1C):c.1556C>T (p.Pro519Leu) rs542791233
NM_001033855.3(DCLRE1C):c.1633G>C (p.Glu545Gln)
NM_001033855.3(DCLRE1C):c.1648G>C (p.Gly550Arg)
NM_001033855.3(DCLRE1C):c.1669dup (p.Thr557fs) rs886037924
NM_001033855.3(DCLRE1C):c.169G>T (p.Val57Phe) rs138077101
NM_001033855.3(DCLRE1C):c.1709T>G (p.Ile570Ser)
NM_001033855.3(DCLRE1C):c.1733A>G (p.Tyr578Cys) rs778823769
NM_001033855.3(DCLRE1C):c.1795A>G (p.Lys599Glu) rs760292491
NM_001033855.3(DCLRE1C):c.181T>C (p.Cys61Arg)
NM_001033855.3(DCLRE1C):c.1834G>A (p.Val612Met)
NM_001033855.3(DCLRE1C):c.1879G>A (p.Glu627Lys)
NM_001033855.3(DCLRE1C):c.1893C>T (p.Pro631=) rs41300676
NM_001033855.3(DCLRE1C):c.1898A>G (p.Glu633Gly)
NM_001033855.3(DCLRE1C):c.1902_1903del (p.Ser635fs) rs760288938
NM_001033855.3(DCLRE1C):c.1903A>T (p.Ser635Cys)
NM_001033855.3(DCLRE1C):c.1903dup (p.Ser635fs) rs760288938
NM_001033855.3(DCLRE1C):c.194C>T (p.Thr65Ile) rs886037925
NM_001033855.3(DCLRE1C):c.1967C>T (p.Thr656Ile)
NM_001033855.3(DCLRE1C):c.1985C>T (p.Pro662Leu) rs1554773491
NM_001033855.3(DCLRE1C):c.1991G>A (p.Arg664Gln)
NM_001033855.3(DCLRE1C):c.2001A>G (p.Leu667=) rs61749163
NM_001033855.3(DCLRE1C):c.2002C>T (p.Gln668Ter)
NM_001033855.3(DCLRE1C):c.2010_2011AT[1] (p.Leu670_Tyr671insTer) rs1564361862
NM_001033855.3(DCLRE1C):c.2029G>A (p.Gly677Ser)
NM_001033855.3(DCLRE1C):c.2039T>C (p.Ile680Thr)
NM_001033855.3(DCLRE1C):c.2045T>A (p.Val682Asp)
NM_001033855.3(DCLRE1C):c.212C>T (p.Thr71Met) rs147013097
NM_001033855.3(DCLRE1C):c.227G>C (p.Arg76Thr) rs41296438
NM_001033855.3(DCLRE1C):c.241C>T (p.Arg81Ter) rs121908156
NM_001033855.3(DCLRE1C):c.247A>C (p.Ile83Leu)
NM_001033855.3(DCLRE1C):c.30G>A (p.Glu10=) rs768356794
NM_001033855.3(DCLRE1C):c.350C>T (p.Pro117Leu) rs757316102
NM_001033855.3(DCLRE1C):c.362+1G>T rs1564446526
NM_001033855.3(DCLRE1C):c.419C>T (p.Ala140Val) rs41297016
NM_001033855.3(DCLRE1C):c.41T>G (p.Ile14Ser)
NM_001033855.3(DCLRE1C):c.423A>C (p.Gln141His)
NM_001033855.3(DCLRE1C):c.449dup (p.His151fs)
NM_001033855.3(DCLRE1C):c.457G>A (p.Gly153Arg) rs41297018
NM_001033855.3(DCLRE1C):c.490T>G (p.Leu164Val)
NM_001033855.3(DCLRE1C):c.492_504delinsAGATACTATGTTG (p.Thr167_Phe168delinsMetLeu)
NM_001033855.3(DCLRE1C):c.522C>G (p.Tyr174Ter)
NM_001033855.3(DCLRE1C):c.536G>A (p.Arg179Gln) rs150854849
NM_001033855.3(DCLRE1C):c.564G>T (p.Glu188Asp)
NM_001033855.3(DCLRE1C):c.586C>T (p.Arg196Trp)
NM_001033855.3(DCLRE1C):c.587G>A (p.Arg196Gln)
NM_001033855.3(DCLRE1C):c.589A>G (p.Ser197Gly)
NM_001033855.3(DCLRE1C):c.597C>A (p.Tyr199Ter) rs121908157
NM_001033855.3(DCLRE1C):c.675C>T (p.Val225=) rs150805064
NM_001033855.3(DCLRE1C):c.678+5G>A
NM_001033855.3(DCLRE1C):c.678+5G>T
NM_001033855.3(DCLRE1C):c.686T>C (p.Val229Ala)
NM_001033855.3(DCLRE1C):c.737C>T (p.Thr246Ile) rs374596045
NM_001033855.3(DCLRE1C):c.754C>T (p.Gln252Ter)
NM_001033855.3(DCLRE1C):c.762T>C (p.His254=) rs143042511
NM_001033855.3(DCLRE1C):c.869C>G (p.Ser290Cys)
NM_001033855.3(DCLRE1C):c.905A>C (p.Asn302Thr)
NM_001033855.3(DCLRE1C):c.917+1G>A rs1564418254
NM_001033855.3(DCLRE1C):c.945T>C (p.Cys315=) rs747818099
NM_001033855.3(DCLRE1C):c.959C>G (p.Ser320Cys) rs41298896
NM_001033855.3(DCLRE1C):c.972+1G>C rs1564414523
NM_001033855.3(DCLRE1C):c.985T>A (p.Leu329Met) rs41299658
NM_022487.3(DCLRE1C):c.435del (p.Ala146Glnfs) rs786205074

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