ClinVar Miner

List of variants reported as pathogenic for hereditary photodermatosis by OMIM

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 224
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HGVS dbSNP gnomAD frequency
NM_000140.5(FECH):c.68-23C>T rs2269219 0.27629
NM_000140.5(FECH):c.315-48T>C rs2272783 0.06828
NM_004628.5(XPC):c.1001C>A (p.Pro334His) rs74737358 0.00740
NM_001122764.3(PPOX):c.767C>G (p.Pro256Arg) rs12735723 0.00660
NM_000140.5(FECH):c.801G>A (p.Met267Ile) rs118204037 0.00108
NM_000400.4(ERCC2):c.1381C>G (p.Leu461Val) rs121913016 0.00050
NM_006502.3(POLH):c.1603A>G (p.Lys535Glu) rs56307355 0.00050
NM_000380.4(XPA):c.682C>T (p.Arg228Ter) rs104894132 0.00033
NM_004260.4(RECQL4):c.1573del (p.Cys525fs) rs386833845 0.00033
NM_000375.3(UROS):c.217T>C (p.Cys73Arg) rs121908012 0.00025
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp) rs121913049 0.00013
NM_004260.4(RECQL4):c.2269C>T (p.Gln757Ter) rs137853229 0.00009
NM_000097.7(CPOX):c.1210A>G (p.Lys404Glu) rs121917868 0.00008
NM_000122.2(ERCC3):c.1421dup (p.Asp474fs) rs587778281 0.00007
NM_000374.5(UROD):c.995G>A (p.Arg332His) rs121918066 0.00007
NM_000375.3(UROS):c.673G>A (p.Gly225Ser) rs121908020 0.00007
NM_000190.4(HMBS):c.500G>A (p.Arg167Gln) rs118204095 0.00006
NM_000375.3(UROS):c.63+1G>A rs373864821 0.00006
NM_000031.6(ALAD):c.397G>A (p.Gly133Arg) rs121912980 0.00005
NM_000400.4(ERCC2):c.335G>A (p.Arg112His) rs121913020 0.00005
NM_001122764.3(PPOX):c.35T>C (p.Ile12Thr) rs28936677 0.00005
NM_004260.4(RECQL4):c.1391-1G>A rs117642173 0.00005
NM_000123.4(ERCC5):c.2620G>A (p.Ala874Thr) rs121434576 0.00004
NM_000190.4(HMBS):c.601C>T (p.Arg201Trp) rs118204109 0.00004
NM_000400.4(ERCC2):c.1846C>T (p.Arg616Trp) rs121913024 0.00004
NM_000123.4(ERCC5):c.2375C>T (p.Ala792Val) rs121434571 0.00003
NM_000123.4(ERCC5):c.2878G>T (p.Glu960Ter) rs121434570 0.00003
NM_000140.5(FECH):c.314+2T>G rs149067146 0.00003
NM_000374.5(UROD):c.636+1G>C rs145195562 0.00003
NM_000374.5(UROD):c.842G>T (p.Gly281Val) rs121918057 0.00003
NM_000375.3(UROS):c.10C>T (p.Leu4Phe) rs121908015 0.00003
NM_000375.3(UROS):c.661-31T>G rs750180293 0.00003
NM_000375.3(UROS):c.683C>T (p.Thr228Met) rs121908014 0.00003
NM_000400.4(ERCC2):c.2047C>T (p.Arg683Trp) rs41556519 0.00003
NM_004260.4(RECQL4):c.2492_2493del (p.His831fs) rs752729755 0.00003
NM_000097.7(CPOX):c.1277+3A>G rs370245685 0.00002
NM_000107.3(DDB2):c.818G>A (p.Arg273His) rs121434640 0.00002
NM_000190.4(HMBS):c.499C>T (p.Arg167Trp) rs118204101 0.00002
NM_000375.3(UROS):c.-203T>C rs1554891988 0.00002
NM_000380.4(XPA):c.619C>T (p.Arg207Ter) rs104894133 0.00002
NM_020894.4(UVSSA):c.367A>T (p.Lys123Ter) rs387907163 0.00002
NM_022662.4(ANAPC1):c.2705-198C>T rs999743155 0.00002
NM_000031.6(ALAD):c.718C>T (p.Arg240Trp) rs121912982 0.00001
NM_000031.6(ALAD):c.820G>A (p.Ala274Thr) rs121912983 0.00001
NM_000031.6(ALAD):c.823G>A (p.Val275Met) rs121912981 0.00001
NM_000057.4(BLM):c.557_559del (p.Ser186_Lys187delinsTer) rs367543035 0.00001
NM_000122.2(ERCC3):c.1633C>T (p.Gln545Ter) rs121913048 0.00001
NM_000123.4(ERCC5):c.526C>T (p.Gln176Ter) rs121434573 0.00001
NM_000123.4(ERCC5):c.787C>T (p.Arg263Ter) rs121434572 0.00001
NM_000124.4(ERCC6):c.229C>T (p.Arg77Ter) rs121917903 0.00001
NM_000140.3(FECH):c.1078_1137del rs879255507 0.00001
NM_000140.5(FECH):c.1137+3A>G rs202147607 0.00001
NM_000190.4(HMBS):c.163G>T (p.Ala55Ser) rs118204106 0.00001
NM_000190.4(HMBS):c.346C>T (p.Arg116Trp) rs118204094 0.00001
NM_000190.4(HMBS):c.754G>A (p.Ala252Thr) rs118204113 0.00001
NM_000190.4(HMBS):c.755C>T (p.Ala252Val) rs118204114 0.00001
NM_000190.4(HMBS):c.91G>A (p.Ala31Thr) rs118204104 0.00001
NM_000374.5(UROD):c.494T>G (p.Met165Arg) rs121918063 0.00001
NM_000374.5(UROD):c.912C>A (p.Asn304Lys) rs121918065 0.00001
NM_000374.5(UROD):c.932A>G (p.Tyr311Cys) rs121918061 0.00001
NM_000375.3(UROS):c.-26-193C>A rs397515350 0.00001
NM_000375.3(UROS):c.184A>G (p.Thr62Ala) rs28941775 0.00001
NM_000375.3(UROS):c.244G>T (p.Val82Phe) rs121908016 0.00001
NM_000380.4(XPA):c.390-1G>C rs750218942 0.00001
NM_000400.4(ERCC2):c.1621A>C (p.Ser541Arg) rs121913019 0.00001
NM_001080449.3(DNA2):c.1711dup (p.Ile571fs) rs1469135249 0.00001
NM_001122764.3(PPOX):c.1072G>A (p.Gly358Arg) rs374936130 0.00001
NM_001122764.3(PPOX):c.503G>A (p.Arg168His) rs41270025 0.00001
NM_004628.5(XPC):c.1735C>T (p.Arg579Ter) rs121965088 0.00001
NM_005236.3(ERCC4):c.1730dup (p.Tyr577Ter) rs397509404 0.00001
NM_005236.3(ERCC4):c.706T>C (p.Cys236Arg) rs397509403 0.00001
NM_006502.3(POLH):c.1766A>C (p.Lys589Thr) rs121908565 0.00001
NM_006502.3(POLH):c.207del (p.Lys70fs) rs1176350430 0.00001
NM_014171.6(CRIPT):c.8G>A (p.Cys3Tyr) rs757078301 0.00001
NM_020894.4(UVSSA):c.94T>C (p.Cys32Arg) rs387907164 0.00001
NM_022662.4(ANAPC1):c.4373+1G>A rs1267333057 0.00001
Multiple alleles
NC_000010.11:g.125815036_125815132del rs2133941461
NC_000010.11:g.68413754_68420303del
NG_008093.1:g.9237_9238insAluYa59225_9237dup
NM_000031.6(ALAD):c.165-11C>A rs749066913
NM_000031.6(ALAD):c.165-11C>T rs749066913
NM_000032.5(ALAS2):c.1642C>T (p.Gln548Ter) rs397514730
NM_000032.5(ALAS2):c.1651_1676del (p.Ser551fs) rs879255567
NM_000032.5(ALAS2):c.1699_1700del (p.Met567fs) rs387906473
NM_000032.5(ALAS2):c.1706_1709del (p.Glu569fs) rs387906472
NM_000057.4(BLM):c.2207_2212delinsTAGATTC (p.Tyr736fs) rs113993962
NM_000057.4(BLM):c.2308-953_2555+4719del
NM_000057.4(BLM):c.3107G>T (p.Cys1036Phe) rs137853153
NM_000082.4(ERCC8):c.1083G>T (p.Trp361Cys) rs281875221
NM_000097.7(CPOX):c.980A>G (p.His327Arg) rs587777271
NM_000107.3(DDB2):c.730A>G (p.Lys244Glu) rs121434639
NM_000107.3(DDB2):c.919G>T (p.Asp307Tyr) rs121434642
NM_000107.3(DDB2):c.937C>T (p.Arg313Ter) rs121434641
NM_000122.2(ERCC3):c.1273C>T (p.Arg425Ter) rs121913047
NM_000122.2(ERCC3):c.2218-6C>A rs200733704
NM_000122.2(ERCC3):c.296T>C (p.Phe99Ser) rs121913045
NM_000122.2(ERCC3):c.471+1G>A rs1558964705
NM_000122.2(ERCC3):c.809_810del (p.Ser269_Phe270insTer) rs866379139
NM_000123.4(ERCC5):c.1115_1118del (p.Arg372fs) rs786200919
NM_000123.4(ERCC5):c.1494del (p.Asp499fs) rs786200920
NM_000123.4(ERCC5):c.1975del (p.Ser659fs) rs1882806435
NM_000123.4(ERCC5):c.215C>A (p.Pro72His) rs121434574
NM_000123.4(ERCC5):c.2573T>C (p.Leu858Pro) rs121434575
NM_000123.4(ERCC5):c.2751del (p.Lys917fs) rs752661599
NM_000123.4(ERCC5):c.2904G>C (p.Trp968Cys) rs267607280
NM_000123.4(ERCC5):c.406C>T (p.Gln136Ter) rs121434577
NM_000123.4(ERCC5):c.83C>A (p.Ala28Asp) rs267607281
NM_000140.3(FECH):c.[1224T>A;1225C>T;1231T>G]
NM_000140.5(FECH):c.1077+1G>A rs786205245
NM_000140.5(FECH):c.1085T>G (p.Val362Gly) rs118204040
NM_000140.5(FECH):c.1136del (p.Lys379fs) rs764466739
NM_000140.5(FECH):c.1250T>C (p.Phe417Ser) rs118204039
NM_000140.5(FECH):c.163G>T (p.Gly55Cys) rs3848519
NM_000140.5(FECH):c.194+11A>G rs786205247
NM_000140.5(FECH):c.314+6A>C rs786205246
NM_000140.5(FECH):c.553G>A (p.Ala185Thr) rs397514476
NM_000140.5(FECH):c.580_584del (p.Tyr194fs) rs786205248
NM_000190.4(HMBS):c.100C>A (p.Gln34Lys) rs118204105
NM_000190.4(HMBS):c.174del (p.Thr59fs) rs1565754285
NM_000190.4(HMBS):c.181dup (p.Asp61fs) rs1565754296
NM_000190.4(HMBS):c.211-1G>A rs1565754452
NM_000190.4(HMBS):c.219_220del (p.Ser75fs) rs1592214498
NM_000190.4(HMBS):c.266+1G>C rs1565754565
NM_000190.4(HMBS):c.331G>A (p.Gly111Arg) rs118204107
NM_000190.4(HMBS):c.445C>T (p.Arg149Ter) rs118204120
NM_000190.4(HMBS):c.446G>A (p.Arg149Gln) rs118204098
NM_000190.4(HMBS):c.463C>T (p.Gln155Ter) rs118204097
NM_000190.4(HMBS):c.499-1G>A rs1565756481
NM_000190.4(HMBS):c.500G>T (p.Arg167Leu) rs118204095
NM_000190.4(HMBS):c.518G>A (p.Arg173Gln) rs118204096
NM_000190.4(HMBS):c.530T>G (p.Leu177Arg) rs118204108
NM_000190.4(HMBS):c.593G>A (p.Trp198Ter) rs118204100
NM_000190.4(HMBS):c.612G>T (p.Gln204His) rs1592217847
NM_000190.4(HMBS):c.647G>A (p.Gly216Asp) rs118204116
NM_000190.4(HMBS):c.667G>A (p.Glu223Lys) rs118204110
NM_000190.4(HMBS):c.730_731del (p.Leu244fs) rs1565757839
NM_000190.4(HMBS):c.734T>G (p.Leu245Arg) rs118204099
NM_000190.4(HMBS):c.734_741dup (p.Ile248fs) rs1565757857
NM_000190.4(HMBS):c.739T>C (p.Cys247Arg) rs118204111
NM_000190.4(HMBS):c.748G>A (p.Glu250Lys) rs118204112
NM_000190.4(HMBS):c.766C>A (p.His256Asn) rs118204115
NM_000190.4(HMBS):c.771+1G>C rs1565758008
NM_000190.4(HMBS):c.771G>A (p.Leu257=) rs1555206170
NM_000190.4(HMBS):c.77G>A (p.Arg26His) rs118204103
NM_000190.4(HMBS):c.847_848del (p.Trp283fs) rs1592220835
NM_000190.4(HMBS):c.849G>A (p.Trp283Ter) rs118204117
NM_000190.4(HMBS):c.900del (p.His300fs) rs1565758825
NM_000190.4(HMBS):c.913-1G>A rs1946325053
NM_000374.5(UROD):c.185C>T (p.Pro62Leu) rs121918060
NM_000374.5(UROD):c.499G>A (p.Glu167Lys) rs121918058
NM_000374.5(UROD):c.583C>T (p.Leu195Phe) rs121918064
NM_000374.5(UROD):c.842G>A (p.Gly281Glu) rs121918057
NM_000374.5(UROD):c.874C>G (p.Arg292Gly) rs121918059
NM_000374.5(UROD):c.942G>A (p.Glu314=) rs121918062
NM_000375.3(UROS):c.-26-183G>A rs397515349
NM_000375.3(UROS):c.-26-197C>A rs397515351
NM_000375.3(UROS):c.158C>T (p.Pro53Leu) rs121908013
NM_000375.3(UROS):c.197C>T (p.Ala66Val) rs28941774
NM_000375.3(UROS):c.243A>T (p.Glu81Asp) rs121908018
NM_000375.3(UROS):c.395-1dup rs796051859
NM_000375.3(UROS):c.562G>A (p.Gly188Arg) rs121908017
NM_000375.3(UROS):c.562G>T (p.Gly188Trp) rs121908017
NM_000375.3(UROS):c.743C>A (p.Pro248Gln) rs121908021
NM_000380.4(XPA):c.172+2T>G rs1587755557
NM_000380.4(XPA):c.323G>T (p.Cys108Phe) rs104894131
NM_000380.4(XPA):c.348T>A (p.Tyr116Ter) rs104894134
NM_000380.4(XPA):c.349_353del (p.Leu117fs) rs1200172747
NM_000400.4(ERCC2):c.1454T>C (p.Leu485Pro) rs121913025
NM_000400.4(ERCC2):c.1703_1704del (p.Phe568fs) rs587778271
NM_000400.4(ERCC2):c.1745_1747delinsTTTCGG (p.Glu582_Lys583delinsValSerGlu) rs2123229159
NM_000400.4(ERCC2):c.2176C>T (p.Gln726Ter) rs121913017
NM_000400.4(ERCC2):c.591_594del (p.Arg196_Tyr197insTer) rs767747355
NM_001080449.3(DNA2):c.143T>C (p.Leu48Pro) rs2494019349
NM_001080449.3(DNA2):c.2208+2456_2403-18del
NM_001080449.3(DNA2):c.442-768_587+648del
NM_001080449.3(DNA2):c.588-2214A>G rs2493999571
NM_001122764.3(PPOX):c.1043A>G (p.Tyr348Cys) rs900431442
NM_001122764.3(PPOX):c.1046A>C (p.Asp349Ala) rs28936676
NM_001122764.3(PPOX):c.1241_1245del (p.Leu414fs) rs2101902523
NM_001122764.3(PPOX):c.175C>T (p.Arg59Trp) rs121918324
NM_001122764.3(PPOX):c.413G>C (p.Arg138Pro) rs767419411
NM_001122764.3(PPOX):c.502C>T (p.Arg168Cys) rs121918325
NM_001122764.3(PPOX):c.506G>A (p.Gly169Glu) rs2525249140
NM_001122764.3(PPOX):c.538_539del (p.Ile180fs) rs1571357779
NM_001122764.3(PPOX):c.59A>C (p.His20Pro) rs121918326
NM_001122764.3(PPOX):c.657_658insAAGGCCAGCGCC (p.Ala219_Leu220insLysAlaSerAla) rs2101876868
NM_001122764.3(PPOX):c.694G>C (p.Gly232Arg) rs121918323
NM_001122764.3(PPOX):c.745dup (p.Val249fs) rs1571369150
NM_001122764.3(PPOX):c.808G>T (p.Val270Leu) rs2525294446
NM_004260.4(RECQL4):c.1650_1656del (p.Ala551fs) rs786200887
NM_004260.4(RECQL4):c.1704+1G>A rs760363252
NM_004260.4(RECQL4):c.1919_1924del (p.Leu640_Ala642delinsPro) rs786200890
NM_004260.4(RECQL4):c.2059-1G>C rs386833849
NM_004260.4(RECQL4):c.2059-1G>T rs386833849
NM_004628.4(XPC):c.621_622ins83 (p.?)
NM_004628.5(XPC):c.1292_1293del (p.Lys431fs) rs794729654
NM_004628.5(XPC):c.1643_1644del (p.Val548fs) rs754532049
NM_004628.5(XPC):c.2033+2T>G rs794729655
NM_004628.5(XPC):c.413-24A>G rs794729657
NM_004628.5(XPC):c.413-9T>A rs794729656
NM_004628.5(XPC):c.566_567del (p.Tyr189fs) rs752088918
NM_005236.3(ERCC4):c.1765C>T (p.Arg589Trp) rs147105770
NM_005236.3(ERCC4):c.2304_2307del (p.Thr770fs) rs869025184
NM_006502.3(POLH):c.106_118del (p.Val36fs) rs2127773185
NM_006502.3(POLH):c.1117C>T (p.Gln373Ter) rs121908564
NM_006502.3(POLH):c.222TCT[1] (p.Leu77del) rs1426687865
NM_006502.3(POLH):c.376C>T (p.Gln126Ter) rs121908563
NM_006502.3(POLH):c.54_57del (p.Val19fs) rs2127773120
NM_006502.3(POLH):c.663_764+2del rs2127799895
NM_006502.3(POLH):c.916G>T (p.Glu306Ter) rs121908562
NM_006660.5(CLPX):c.893G>A (p.Gly298Asp) rs1555412542
NM_014171.5(CRIPT):c.-422_17-582del
NM_014171.6(CRIPT):c.132del (p.Ala45fs) rs771238795
NM_014171.6(CRIPT):c.133_134insGG (p.Ala45fs) rs587779356
NM_014171.6(CRIPT):c.141del (p.Phe47fs) rs587779348
NM_014171.6(CRIPT):c.227G>A (p.Cys76Tyr) rs2466595181
NM_014171.6(CRIPT):c.7_8del (p.Cys3fs) rs1558716043
NM_020894.4(UVSSA):c.87del (p.Ile31fs) rs778975867
NM_022662.4(ANAPC1):c.1778dup (p.Asn593fs) rs1573454278
POLH, 2-BP DEL, NT770
POLH, DEL AND TRP297TER
PPOX, IVS11DS, G-A, -1
UROS, 80-BP INS

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