ClinVar Miner

List of variants reported as pathogenic for DNA repair disease by Genetic Services Laboratory, University of Chicago

Included ClinVar conditions (97):
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Total variants: 28
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HGVS dbSNP
NM_000051.3(ATM):c.103C>T (p.Arg35Ter) rs55861249
NM_000051.3(ATM):c.2282_2283CT[1] (p.Leu762fs) rs587781658
NM_000051.3(ATM):c.2718_2719GT[1] (p.Leu906_Cys907insTer) rs786202695
NM_000051.3(ATM):c.7271T>G (p.Val2424Gly) rs28904921
NM_000124.4(ERCC6):c.2058G>A (p.Trp686Ter) rs751292948
NM_000124.4(ERCC6):c.2203C>T (p.Arg735Ter) rs121917901
NM_000124.4(ERCC6):c.229C>T (p.Arg77Ter) rs121917903
NM_000124.4(ERCC6):c.2551T>C (p.Trp851Arg) rs368728467
NM_000124.4(ERCC6):c.2923C>T (p.Arg975Ter) rs772801089
NM_000124.4(ERCC6):c.850_851insT (p.Glu284fs) rs797045562
NM_000135.4(FANCA):c.1111_1114TTGG[1] (p.Val372fs) rs397507552
NM_000135.4(FANCA):c.1340C>G (p.Ser447Ter) rs149551759
NM_000135.4(FANCA):c.1A>G (p.Met1Val) rs772751654
NM_000135.4(FANCA):c.2151+1G>A rs1555548428
NM_000135.4(FANCA):c.2398G>T (p.Glu800Ter) rs1555547474
NM_000135.4(FANCA):c.2601+1G>T rs1188581065
NM_001113378.1(FANCI):c.1461T>A (p.Tyr487Ter) rs769248873
NM_001195248.2(APTX):c.837G>A (p.Trp279Ter) rs104894103
NM_001195248.2(APTX):c.875-2A>G rs904293109
NM_002485.4(NBN):c.1974del (p.Glu658fs) rs1057516668
NM_002485.4(NBN):c.657_661del (p.Lys219fs) rs587776650
NM_002485.4(NBN):c.698_701del (p.Lys233fs) rs587780100
NM_005732.4(RAD50):c.2165dup (p.Glu723fs) rs397507178
NM_015046.7(SETX):c.5821_5830del (p.Ala1941fs) rs797045067
NM_018062.3(FANCL):c.1007_1009del (p.Ile336_Cys337delinsSer) rs747253294
NM_018062.3(FANCL):c.1096_1099dup (p.Thr367fs) rs759217526
NM_024675.3(PALB2):c.757_758delCT rs180177092
NM_033084.5(FANCD2):c.1201del (p.Arg401fs) rs1553608812

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