List of variants in gene DCLRE1C reported as likely pathogenic

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

Total variants: 106

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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.1990C>T (p.Arg664Ter)	rs200693133	0.00011
NM_001033855.3(DCLRE1C):c.109+1G>T	rs143144732	0.00003
NM_001033855.3(DCLRE1C):c.1784dup (p.Ile596fs)	rs1190921257	0.00003
NM_001033855.3(DCLRE1C):c.247-2A>G	rs2131027694	0.00003
NM_001033855.3(DCLRE1C):c.103C>G (p.His35Asp)	rs121908159	0.00001
NM_001033855.3(DCLRE1C):c.162-1G>T	rs149090997	0.00001
NM_001033855.3(DCLRE1C):c.1777C>T (p.Gln593Ter)	rs1250826419	0.00001
NM_001033855.3(DCLRE1C):c.211A>C (p.Thr71Pro)	rs1437892966	0.00001
NM_001033855.3(DCLRE1C):c.465-2A>C	rs1839625956	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.1061+1G>A	rs2491844147
NM_001033855.3(DCLRE1C):c.1085C>N (p.Ser362Xaa)	rs755182961
NM_001033855.3(DCLRE1C):c.1087del (p.Gln363fs)	rs2491775642
NM_001033855.3(DCLRE1C):c.1103del (p.Lys368fs)	rs2491775008
NM_001033855.3(DCLRE1C):c.1106dup (p.Tyr369Ter)	rs2491774838
NM_001033855.3(DCLRE1C):c.1156+1G>A	rs2491772724
NM_001033855.3(DCLRE1C):c.1157-1_1162dup	rs1588896721
NM_001033855.3(DCLRE1C):c.1159_1184dup (p.Asp395fs)	rs2491637403
NM_001033855.3(DCLRE1C):c.1176_1179del (p.Phe393fs)	rs2491637540
NM_001033855.3(DCLRE1C):c.1238del (p.Pro413fs)	rs2491636150
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)	rs2491634513
NM_001033855.3(DCLRE1C):c.1319_1320del (p.Cys440fs)	rs2491634111
NM_001033855.3(DCLRE1C):c.1324C>T (p.Gln442Ter)	rs2491633975
NM_001033855.3(DCLRE1C):c.140T>A (p.Leu47Ter)	rs2492399920
NM_001033855.3(DCLRE1C):c.1442del (p.Lys481fs)	rs2131776743
NM_001033855.3(DCLRE1C):c.1442dup (p.Ala482fs)	rs2131776743
NM_001033855.3(DCLRE1C):c.1492dup (p.Glu498fs)	rs1588893751
NM_001033855.3(DCLRE1C):c.1507_1508del (p.Ser503fs)	rs2131775994
NM_001033855.3(DCLRE1C):c.1513G>T (p.Glu505Ter)	rs2491629802
NM_001033855.3(DCLRE1C):c.1539_1540del (p.Gly515fs)	rs2491629087
NM_001033855.3(DCLRE1C):c.1574_1575del (p.Asp524_Ser525insTer)	rs2491628054
NM_001033855.3(DCLRE1C):c.162-2A>C	rs2492301974
NM_001033855.3(DCLRE1C):c.1628_1632del (p.Ile543fs)	rs767758218
NM_001033855.3(DCLRE1C):c.1669dup (p.Thr557fs)	rs886037924
NM_001033855.3(DCLRE1C):c.1670_1671del (p.Thr557fs)	rs1834759683
NM_001033855.3(DCLRE1C):c.1679dup (p.Leu560fs)	rs2491625001
NM_001033855.3(DCLRE1C):c.1696_1699dup (p.Ser567fs)	rs762761194
NM_001033855.3(DCLRE1C):c.1706dup (p.Asp569fs)	rs752450605
NM_001033855.3(DCLRE1C):c.1749dup (p.Glu584fs)	rs765144892
NM_001033855.3(DCLRE1C):c.1774G>T (p.Glu592Ter)	rs2491621783
NM_001033855.3(DCLRE1C):c.1774del (p.Glu592fs)
NM_001033855.3(DCLRE1C):c.1789del (p.Cys597fs)	rs759377639
NM_001033855.3(DCLRE1C):c.1797_1818dup (p.Ser607delinsGlyTyrLeuLeuTer)	rs2491620281
NM_001033855.3(DCLRE1C):c.1803_1804dup (p.Tyr602fs)	rs1834728173
NM_001033855.3(DCLRE1C):c.1808_1809del (p.Tyr602_Ser603insTer)	rs2491620581
NM_001033855.3(DCLRE1C):c.180C>A (p.Tyr60Ter)	rs2131108640
NM_001033855.3(DCLRE1C):c.1830del (p.Asp611fs)	rs2491620028
NM_001033855.3(DCLRE1C):c.184_191del (p.Ser62fs)	rs1460843145
NM_001033855.3(DCLRE1C):c.1A>G (p.Met1Val)
NM_001033855.3(DCLRE1C):c.201GTT[2] (p.Leu70del)	rs753202682
NM_001033855.3(DCLRE1C):c.206T>A (p.Leu69Ter)	rs1589136659
NM_001033855.3(DCLRE1C):c.246+2T>G	rs2492298473
NM_001033855.3(DCLRE1C):c.247-1G>C	rs2131027668
NM_001033855.3(DCLRE1C):c.274dup (p.Gln92fs)	rs2492174062
NM_001033855.3(DCLRE1C):c.306+1G>A	rs2492173028
NM_001033855.3(DCLRE1C):c.306+2T>A	rs2131026813
NM_001033855.3(DCLRE1C):c.306+2T>C	rs2131026813
NM_001033855.3(DCLRE1C):c.310_313del	rs2130974126
NM_001033855.3(DCLRE1C):c.329T>G (p.Leu110Arg)
NM_001033855.3(DCLRE1C):c.330_331del (p.Leu111fs)	rs2492077470
NM_001033855.3(DCLRE1C):c.335C>T (p.Pro112Leu)	rs2492077143
NM_001033855.3(DCLRE1C):c.346T>C (p.Cys116Arg)	rs2492076708
NM_001033855.3(DCLRE1C):c.353G>T (p.Gly118Val)	rs1839956628
NM_001033855.3(DCLRE1C):c.362T>C (p.Met121Thr)	rs747171418
NM_001033855.3(DCLRE1C):c.363-2A>G	rs2130956855
NM_001033855.3(DCLRE1C):c.368T>A (p.Leu123Ter)
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)	rs2492040262
NM_001033855.3(DCLRE1C):c.416T>A (p.Leu139Ter)	rs2492040094
NM_001033855.3(DCLRE1C):c.426_464+123del	rs2492034634
NM_001033855.3(DCLRE1C):c.461del (p.Gly154fs)	rs1404214090
NM_001033855.3(DCLRE1C):c.464+2T>C	rs2492038028
NM_001033855.3(DCLRE1C):c.465-1G>A	rs2130944445
NM_001033855.3(DCLRE1C):c.465-1G>C	rs2130944445
NM_001033855.3(DCLRE1C):c.465-2A>G	rs1839625956
NM_001033855.3(DCLRE1C):c.488_491del (p.Tyr163fs)	rs2492029077
NM_001033855.3(DCLRE1C):c.492_504delinsAGATACTATGTTG (p.Thr167_Phe168delinsMetLeu)	rs1589064324
NM_001033855.3(DCLRE1C):c.537+1G>T	rs2492028268
NM_001033855.3(DCLRE1C):c.538-1G>A	rs2492025655
NM_001033855.3(DCLRE1C):c.538-1G>C	rs2492025655
NM_001033855.3(DCLRE1C):c.595_596dup (p.His200fs)	rs2492024816
NM_001033855.3(DCLRE1C):c.640dup (p.Tyr214fs)
NM_001033855.3(DCLRE1C):c.671del (p.Gly224fs)	rs1407251815
NM_001033855.3(DCLRE1C):c.676C>T (p.Gln226Ter)	rs1564438804
NM_001033855.3(DCLRE1C):c.678+1G>A	rs2492023846
NM_001033855.3(DCLRE1C):c.678+2T>G	rs1215422400
NM_001033855.3(DCLRE1C):c.679-1G>A	rs2130918080
NM_001033855.3(DCLRE1C):c.679-1G>T	rs2130918080
NM_001033855.3(DCLRE1C):c.716del (p.Pro239fs)	rs2492005406
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	rs2491948431
NM_001033855.3(DCLRE1C):c.816T>A (p.Cys272Ter)	rs1346260747
NM_001033855.3(DCLRE1C):c.82G>C (p.Ala28Pro)	rs773046452
NM_001033855.3(DCLRE1C):c.917+1G>A	rs1564418254
NM_001033855.3(DCLRE1C):c.928_929dup (p.Ser310fs)	rs1564414831
NM_001033855.3(DCLRE1C):c.939_972+715del	rs2491904960
NM_001033855.3(DCLRE1C):c.95C>G (p.Ser32Cys)	rs969498121
NM_001033855.3(DCLRE1C):c.95C>T (p.Ser32Phe)	rs969498121
NM_001033855.3(DCLRE1C):c.973-1G>A	rs2491846909

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