List of variants reported as pathogenic for severe combined immunodeficiency due to DCLRE1C deficiency by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 104

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HGVS	dbSNP	gnomAD frequency
NM_001033855.3(DCLRE1C):c.109+1G>T	rs143144732	0.00003
NM_001033855.3(DCLRE1C):c.241C>T (p.Arg81Ter)	rs121908156	0.00003
NM_001033855.3(DCLRE1C):c.464+1G>A	rs1162344514	0.00001
NM_001033855.3(DCLRE1C):c.47T>C (p.Ile16Thr)	rs1317003987	0.00001
NC_000010.10:g.(?_14946600)_(14951339_?)del
NC_000010.10:g.(?_14950407)_(14981888_?)del
NC_000010.10:g.(?_14953179)_(14961841_?)del
NC_000010.10:g.(?_14964960)_(14966845_?)del
NC_000010.10:g.(?_14974833)_(14981888_?)del
NC_000010.10:g.(?_14976359)_(14976794_?)del
NC_000010.10:g.(?_14976359)_(14996009_?)del
NC_000010.10:g.(?_14976692)_(14996009_?)del
NC_000010.10:g.(?_14977442)_(14996009_?)del
NC_000010.10:g.(?_14977442)_(14996029_?)del
NC_000010.10:g.(?_14977452)_(14978602_?)del
NC_000010.10:g.(?_14977452)_(14996009_?)del
NC_000010.10:g.(?_14978527)_(14978602_?)del
NC_000010.10:g.(?_14981789)_(14996009_?)del
NC_000010.10:g.(?_14981789)_(14996029_?)del
NC_000010.10:g.(?_14981799)_(14996009_?)del
NC_000010.10:g.(?_14987084)_(14996009_?)del
NC_000010.10:g.(?_14989514)_(14996441_?)del
NC_000010.10:g.(?_14991015)_(14991106_?)del
NC_000010.10:g.(?_14995891)_(14996441_?)del
NC_000010.11:g.(?_14935443)_(14936613_?)del
NC_000010.11:g.(?_14939800)_(14945199_?)del
NC_000010.11:g.(?_14945085)_(14945209_?)del
NC_000010.11:g.(?_14945085)_(14954030_?)del
NC_000010.11:g.(?_14945095)_(14945199_?)del
NC_000010.11:g.(?_14945095)_(14954442_?)del
NC_000010.11:g.14935443_14954030del
NM_001033855.3(DCLRE1C):c.103C>G (p.His35Asp)	rs121908159
NM_001033855.3(DCLRE1C):c.1103del (p.Lys368fs)
NM_001033855.3(DCLRE1C):c.1147C>T (p.Arg383Ter)
NM_001033855.3(DCLRE1C):c.1156+1G>C
NM_001033855.3(DCLRE1C):c.1156+2T>G
NM_001033855.3(DCLRE1C):c.1221C>G (p.Tyr407Ter)	rs1296189593
NM_001033855.3(DCLRE1C):c.1246_1247insCGCTGTTCATTATAGCTACTCTCATAACCCTCAACACCCACTCCCTCTTAGCCAATATGGCTAAG (p.Phe416fs)
NM_001033855.3(DCLRE1C):c.1248delinsAATCATATTTACCAAATGCCCCTCATTTACATAAATATTATACTAGCATTTACCATCTCACTTCTAGGAATACTAGTATATCGCTCACACCTCATATCCTCCCTACTATGCCTAGAAGGAATAATACTATCGCTGTTCATTATAGCTACTCTCATAACCCTCAACACCCACTCCCTCTTAGCCAATATGGCTAAGTA (p.Phe416delinsLeuIleIlePheThrLysCysProSerPheThrTer)
NM_001033855.3(DCLRE1C):c.1259_1266dup (p.Glu423fs)	rs755447150
NM_001033855.3(DCLRE1C):c.1265C>A (p.Ser422Ter)	rs1354336544
NM_001033855.3(DCLRE1C):c.1265C>G (p.Ser422Ter)	rs1354336544
NM_001033855.3(DCLRE1C):c.1270A>T (p.Lys424Ter)
NM_001033855.3(DCLRE1C):c.1274dup (p.Pro426fs)
NM_001033855.3(DCLRE1C):c.1286_1287del (p.Leu429fs)
NM_001033855.3(DCLRE1C):c.1299_1306dup (p.Cys436Ter)	rs2131778656
NM_001033855.3(DCLRE1C):c.1313_1317del (p.Ala438fs)	rs2131778479
NM_001033855.3(DCLRE1C):c.1315G>T (p.Glu439Ter)	rs753674918
NM_001033855.3(DCLRE1C):c.1316_1317del (p.Glu439fs)	rs1200768694
NM_001033855.3(DCLRE1C):c.1350_1356del (p.Asp451fs)	rs786200884
NM_001033855.3(DCLRE1C):c.140T>A (p.Leu47Ter)
NM_001033855.3(DCLRE1C):c.1438C>T (p.Gln480Ter)
NM_001033855.3(DCLRE1C):c.1442del (p.Lys481fs)	rs2131776743
NM_001033855.3(DCLRE1C):c.1467G>A (p.Trp489Ter)	rs2131776422
NM_001033855.3(DCLRE1C):c.1467_1468del (p.Trp489_Glu490delinsTer)
NM_001033855.3(DCLRE1C):c.1489_1490insCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCACGGTGAAACCCCGTCTCTACTAANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAGAAATG (p.Asp497delinsAlaLeuTrpGluAlaGluAlaGlyGlySerArgGlyGlnGluIleGluThrThrValLysProArgLeuTyrTer)
NM_001033855.3(DCLRE1C):c.1492G>T (p.Glu498Ter)	rs372597855
NM_001033855.3(DCLRE1C):c.1502_1503dup (p.Glu502fs)	rs2131776130
NM_001033855.3(DCLRE1C):c.1502_1508del (p.Asp501fs)
NM_001033855.3(DCLRE1C):c.1507_1508del (p.Ser503fs)	rs2131775994
NM_001033855.3(DCLRE1C):c.1543G>T (p.Gly515Ter)	rs1419439468
NM_001033855.3(DCLRE1C):c.1545dup (p.Ser516fs)	rs2131775605
NM_001033855.3(DCLRE1C):c.1549C>T (p.Gln517Ter)
NM_001033855.3(DCLRE1C):c.1558_1559del (p.Lys520fs)	rs2131775466
NM_001033855.3(DCLRE1C):c.1574_1575del (p.Asp524_Ser525insTer)
NM_001033855.3(DCLRE1C):c.1585_1588dup (p.Thr530fs)	rs1834776385
NM_001033855.3(DCLRE1C):c.1628_1632del (p.Ile543fs)	rs767758218
NM_001033855.3(DCLRE1C):c.1636C>T (p.Gln546Ter)
NM_001033855.3(DCLRE1C):c.1665_1666del (p.Asp556fs)	rs2131774270
NM_001033855.3(DCLRE1C):c.178_179dup (p.Cys61fs)
NM_001033855.3(DCLRE1C):c.180C>A (p.Tyr60Ter)	rs2131108640
NM_001033855.3(DCLRE1C):c.184_191del (p.Ser62fs)
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.310_313del	rs2130974126
NM_001033855.3(DCLRE1C):c.318dup (p.Val107fs)
NM_001033855.3(DCLRE1C):c.328del (p.Leu110fs)
NM_001033855.3(DCLRE1C):c.330_331del (p.Leu111fs)
NM_001033855.3(DCLRE1C):c.352G>T (p.Gly118Ter)	rs1839957089
NM_001033855.3(DCLRE1C):c.356C>G (p.Ser119Ter)
NM_001033855.3(DCLRE1C):c.362+2T>A
NM_001033855.3(DCLRE1C):c.362+2T>C
NM_001033855.3(DCLRE1C):c.449dup (p.His151fs)	rs1589070600
NM_001033855.3(DCLRE1C):c.461del (p.Gly154fs)	rs1404214090
NM_001033855.3(DCLRE1C):c.476del (p.Ile159fs)
NM_001033855.3(DCLRE1C):c.481dup (p.Ser161fs)	rs1839622622
NM_001033855.3(DCLRE1C):c.484_487dup (p.Tyr163fs)
NM_001033855.3(DCLRE1C):c.511_512delinsTG (p.Pro171Ter)	rs2130943393
NM_001033855.3(DCLRE1C):c.522C>G (p.Tyr174Ter)	rs1340132582
NM_001033855.3(DCLRE1C):c.565del (p.Leu189fs)
NM_001033855.3(DCLRE1C):c.571C>T (p.Arg191Ter)	rs752655158
NM_001033855.3(DCLRE1C):c.597C>A (p.Tyr199Ter)	rs121908157
NM_001033855.3(DCLRE1C):c.628del (p.Tyr210fs)	rs1839558393
NM_001033855.3(DCLRE1C):c.629del (p.Tyr210fs)	rs2130938370
NM_001033855.3(DCLRE1C):c.655del (p.Ser220fs)
NM_001033855.3(DCLRE1C):c.668T>G (p.Leu223Ter)
NM_001033855.3(DCLRE1C):c.671del (p.Gly224fs)	rs1407251815
NM_001033855.3(DCLRE1C):c.700del (p.Met234fs)
NM_001033855.3(DCLRE1C):c.754C>T (p.Gln252Ter)	rs1589050343
NM_001033855.3(DCLRE1C):c.780+1del	rs786205074
NM_001033855.3(DCLRE1C):c.787G>T (p.Glu263Ter)
NM_001033855.3(DCLRE1C):c.801G>A (p.Trp267Ter)	rs2130853055
NM_001033855.3(DCLRE1C):c.816T>A (p.Cys272Ter)	rs1346260747
NM_001033855.3(DCLRE1C):c.822del (p.Thr275fs)

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