ClinVar Miner

List of variants in gene DCLRE1C reported as likely pathogenic for immune system disorder

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 93
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HGVS dbSNP gnomAD frequency
NM_001033855.3(DCLRE1C):c.1990C>T (p.Arg664Ter) rs200693133 0.00012
NM_001033855.3(DCLRE1C):c.162-1G>T rs149090997 0.00001
NM_001033855.3(DCLRE1C):c.47T>C (p.Ile16Thr) rs1317003987 0.00001
NC_000010.10:g.(?_14969995)_(14974974_?)dup
NC_000010.10:g.(?_14978517)_(14981888_?)dup
NM_001033855.3(DCLRE1C):c.103C>G (p.His35Asp) rs121908159
NM_001033855.3(DCLRE1C):c.1061+1G>A
NM_001033855.3(DCLRE1C):c.1085C>N (p.Ser362Xaa)
NM_001033855.3(DCLRE1C):c.1087del (p.Gln363fs)
NM_001033855.3(DCLRE1C):c.1103del (p.Lys368fs)
NM_001033855.3(DCLRE1C):c.1106dup (p.Tyr369Ter)
NM_001033855.3(DCLRE1C):c.1156+1G>A
NM_001033855.3(DCLRE1C):c.1159_1184dup (p.Asp395fs)
NM_001033855.3(DCLRE1C):c.1176_1179del (p.Phe393fs)
NM_001033855.3(DCLRE1C):c.1238del (p.Pro413fs)
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.1307delinsAGGATGCT (p.Cys436Ter)
NM_001033855.3(DCLRE1C):c.1319_1320del (p.Cys440fs)
NM_001033855.3(DCLRE1C):c.1324C>T (p.Gln442Ter)
NM_001033855.3(DCLRE1C):c.140T>A (p.Leu47Ter)
NM_001033855.3(DCLRE1C):c.1442del (p.Lys481fs) rs2131776743
NM_001033855.3(DCLRE1C):c.1442dup (p.Ala482fs)
NM_001033855.3(DCLRE1C):c.1492dup (p.Glu498fs) rs1588893751
NM_001033855.3(DCLRE1C):c.1513G>T (p.Glu505Ter)
NM_001033855.3(DCLRE1C):c.1539_1540del (p.Gly515fs)
NM_001033855.3(DCLRE1C):c.1574_1575del (p.Asp524_Ser525insTer)
NM_001033855.3(DCLRE1C):c.162-2A>C
NM_001033855.3(DCLRE1C):c.1628_1632del (p.Ile543fs) rs767758218
NM_001033855.3(DCLRE1C):c.1669dup (p.Thr557fs) rs886037924
NM_001033855.3(DCLRE1C):c.1696_1699dup (p.Ser567fs)
NM_001033855.3(DCLRE1C):c.1706dup (p.Asp569fs)
NM_001033855.3(DCLRE1C):c.1749dup (p.Glu584fs)
NM_001033855.3(DCLRE1C):c.1774G>T (p.Glu592Ter)
NM_001033855.3(DCLRE1C):c.1777C>T (p.Gln593Ter)
NM_001033855.3(DCLRE1C):c.1784dup (p.Ile596fs)
NM_001033855.3(DCLRE1C):c.1789del (p.Cys597fs) rs759377639
NM_001033855.3(DCLRE1C):c.1797_1818dup (p.Ser607delinsGlyTyrLeuLeuTer)
NM_001033855.3(DCLRE1C):c.1803_1804dup (p.Tyr602fs)
NM_001033855.3(DCLRE1C):c.1808_1809del (p.Tyr602_Ser603insTer)
NM_001033855.3(DCLRE1C):c.180C>A (p.Tyr60Ter) rs2131108640
NM_001033855.3(DCLRE1C):c.1830del (p.Asp611fs)
NM_001033855.3(DCLRE1C):c.184_191del (p.Ser62fs)
NM_001033855.3(DCLRE1C):c.206T>A (p.Leu69Ter) rs1589136659
NM_001033855.3(DCLRE1C):c.211A>C (p.Thr71Pro)
NM_001033855.3(DCLRE1C):c.246+2T>G
NM_001033855.3(DCLRE1C):c.247-1G>C rs2131027668
NM_001033855.3(DCLRE1C):c.247-2A>G rs2131027694
NM_001033855.3(DCLRE1C):c.274dup (p.Gln92fs)
NM_001033855.3(DCLRE1C):c.306+1G>A
NM_001033855.3(DCLRE1C):c.306+2T>A rs2131026813
NM_001033855.3(DCLRE1C):c.306+2T>C
NM_001033855.3(DCLRE1C):c.310_313del rs2130974126
NM_001033855.3(DCLRE1C):c.330_331del (p.Leu111fs)
NM_001033855.3(DCLRE1C):c.335C>T (p.Pro112Leu)
NM_001033855.3(DCLRE1C):c.346T>C (p.Cys116Arg)
NM_001033855.3(DCLRE1C):c.363-2A>G rs2130956855
NM_001033855.3(DCLRE1C):c.403G>A (p.Gly135Arg) rs786205456
NM_001033855.3(DCLRE1C):c.406G>A (p.Asp136Asn) rs1839765652
NM_001033855.3(DCLRE1C):c.413G>C (p.Arg138Thr)
NM_001033855.3(DCLRE1C):c.416T>A (p.Leu139Ter)
NM_001033855.3(DCLRE1C):c.426_464+123del
NM_001033855.3(DCLRE1C):c.461del (p.Gly154fs) rs1404214090
NM_001033855.3(DCLRE1C):c.464+2T>C
NM_001033855.3(DCLRE1C):c.465-1G>A
NM_001033855.3(DCLRE1C):c.465-1G>C rs2130944445
NM_001033855.3(DCLRE1C):c.465-2A>C rs1839625956
NM_001033855.3(DCLRE1C):c.465-2A>G
NM_001033855.3(DCLRE1C):c.488_491del (p.Tyr163fs)
NM_001033855.3(DCLRE1C):c.492_504delinsAGATACTATGTTG (p.Thr167_Phe168delinsMetLeu) rs1589064324
NM_001033855.3(DCLRE1C):c.537+1G>T
NM_001033855.3(DCLRE1C):c.538-1G>A
NM_001033855.3(DCLRE1C):c.538-1G>C
NM_001033855.3(DCLRE1C):c.571C>T (p.Arg191Ter) rs752655158
NM_001033855.3(DCLRE1C):c.595_596dup (p.His200fs)
NM_001033855.3(DCLRE1C):c.671del (p.Gly224fs) rs1407251815
NM_001033855.3(DCLRE1C):c.676C>T (p.Gln226Ter)
NM_001033855.3(DCLRE1C):c.678+1G>A
NM_001033855.3(DCLRE1C):c.678+2T>G
NM_001033855.3(DCLRE1C):c.679-1G>A
NM_001033855.3(DCLRE1C):c.679-1G>T rs2130918080
NM_001033855.3(DCLRE1C):c.716del (p.Pro239fs)
NM_001033855.3(DCLRE1C):c.754C>T (p.Gln252Ter) rs1589050343
NM_001033855.3(DCLRE1C):c.780+1G>C rs1839255008
NM_001033855.3(DCLRE1C):c.781-1G>A
NM_001033855.3(DCLRE1C):c.816T>A (p.Cys272Ter) rs1346260747
NM_001033855.3(DCLRE1C):c.82G>C (p.Ala28Pro)
NM_001033855.3(DCLRE1C):c.917+1G>A rs1564418254
NM_001033855.3(DCLRE1C):c.928_929dup (p.Ser310fs)
NM_001033855.3(DCLRE1C):c.939_972+715del
NM_001033855.3(DCLRE1C):c.95C>G (p.Ser32Cys)
NM_001033855.3(DCLRE1C):c.95C>T (p.Ser32Phe) rs969498121
NM_001033855.3(DCLRE1C):c.973-1G>A

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