List of variants reported as pathogenic for DNA repair disease by Mendelics

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Total variants: 32

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HGVS	dbSNP	gnomAD frequency
NM_000122.2(ERCC3):c.325C>T (p.Arg109Ter)	rs34295337	0.00030
NM_000400.4(ERCC2):c.2150C>G (p.Ala717Gly)	rs144564120	0.00029
NM_000136.3(FANCC):c.456+4A>T	rs104886456	0.00021
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter)	rs137852986	0.00010
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter)	rs104886457	0.00007
NM_018062.4(FANCL):c.296_297del (p.Gln99fs)	rs779544327	0.00007
NM_001018115.3(FANCD2):c.3777+1G>T	rs1434069831	0.00001
NM_058216.3(RAD51C):c.709C>T (p.Arg237Ter)	rs770637624	0.00001
NM_000122.2(ERCC3):c.460C>T (p.Gln154Ter)	rs1404293670
NM_000123.4(ERCC5):c.840_841dup (p.Val281fs)	rs1595382501
NM_000135.4(FANCA):c.236_239del (p.Asp79fs)	rs1336033143
NM_000135.4(FANCA):c.275C>G (p.Ser92Ter)	rs1183559927
NM_000136.3(FANCC):c.1257del (p.Thr420fs)	rs765551897
NM_000136.3(FANCC):c.1257dup (p.Thr420fs)	rs765551897
NM_000136.3(FANCC):c.1393C>T (p.Gln465Ter)	rs1035139114
NM_000136.3(FANCC):c.1653dup (p.Lys552Ter)	rs2134382250
NM_000136.3(FANCC):c.259C>T (p.Gln87Ter)	rs2136049646
NM_000136.3(FANCC):c.338G>A (p.Trp113Ter)	rs1064793405
NM_000136.3(FANCC):c.519del (p.Arg173fs)	rs1564719070
NM_000400.4(ERCC2):c.851del (p.Glu284fs)	rs2123288444
NM_000400.4(ERCC2):c.949+5G>A	rs899469885
NM_001018115.3(FANCD2):c.1279-1G>A	rs1294791314
NM_001033855.3(DCLRE1C):c.206T>A (p.Leu69Ter)	rs1589136659
NM_002485.5(NBN):c.156_157del (p.Ser53fs)	rs767454740
NM_002485.5(NBN):c.657_661del (p.Lys219fs)	rs587776650
NM_002485.5(NBN):c.842dup (p.Leu281fs)	rs864309669
NM_006502.3(POLH):c.638C>G (p.Ser213Ter)	rs763654639
NM_032043.3(BRIP1):c.2990_2993del (p.Thr997fs)	rs771028677
NM_032043.3(BRIP1):c.30del (p.Ile10fs)	rs1567878234
NM_032444.4(SLX4):c.4391_4403del (p.Ser1464fs)	rs1596519879
NM_032444.4(SLX4):c.4405del (p.Ser1469fs)	rs1596519854
NM_058216.3(RAD51C):c.890_899del (p.Leu297fs)	rs1555602141

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