ClinVar Miner

List of variants reported as likely benign for hereditary photodermatosis by Illumina Laboratory Services, Illumina

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 195
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HGVS dbSNP gnomAD frequency
NM_024334.3(TMEM43):c.*779A>C rs13069 0.19544
NM_024334.3(TMEM43):c.*1424T>C rs10468 0.19535
NM_004628.5(XPC):c.*618A>G rs2470458 0.16965
NM_024334.3(TMEM43):c.*1374T>C rs8516 0.16359
NM_024334.3(TMEM43):c.*463A>G rs1043953 0.15711
NM_001122764.3(PPOX):c.-128C>G rs72714915 0.05005
NM_024334.3(TMEM43):c.*312A>C rs11920099 0.04223
NC_000013.11:g.102845830C>A rs4150248 0.03070
NM_024334.3(TMEM43):c.*277C>T rs11943 0.02971
NM_000031.5(ALAD):c.-177C>T rs28550589 0.02747
NM_024334.3(TMEM43):c.*217G>A rs116757981 0.02517
NM_024334.3(TMEM43):c.*924T>C rs79741000 0.02335
NM_005236.3(ERCC4):c.*675G>T rs1651203 0.02119
NM_006502.3(POLH):c.*1563dup rs201071335 0.01967
NM_000140.5(FECH):c.*3170T>C rs75976774 0.01550
NM_001122764.3(PPOX):c.-151G>T rs115158839 0.01505
NM_001382.4(DPAGT1):c.*427T>G rs28990975 0.01379
NM_000031.6(ALAD):c.*1811_*1812del rs142213018 0.01378
NM_000140.5(FECH):c.*571G>A rs114617188 0.01361
NC_000013.11:g.102845827A>C rs74109690 0.01348
NM_006502.3(POLH):c.*1156G>A rs9333560 0.01273
NM_000375.3(UROS):c.-31G>T rs73381212 0.01115
NM_004628.5(XPC):c.*192T>C rs3731178 0.01085
NM_000380.4(XPA):c.754C>G (p.Leu252Val) rs3176750 0.01065
NM_024334.3(TMEM43):c.*1160A>G rs9842062 0.01011
NM_005236.3(ERCC4):c.*3537C>T rs113073720 0.01006
NM_000140.5(FECH):c.*892T>C rs13271 0.00964
NM_000122.2(ERCC3):c.-98A>G rs4150398 0.00950
NM_005236.3(ERCC4):c.252C>T (p.Leu84=) rs3136056 0.00910
NM_000374.5(UROD):c.*3G>A rs74349352 0.00902
NM_000380.4(XPA):c.766A>G (p.Met256Val) rs57519506 0.00899
NM_000122.2(ERCC3):c.*106T>C rs4150524 0.00895
NM_000140.5(FECH):c.*5801T>G rs139119026 0.00767
NM_004628.5(XPC):c.1001C>A (p.Pro334His) rs74737358 0.00740
NM_005236.3(ERCC4):c.*1056A>G rs72781468 0.00699
NM_001122764.3(PPOX):c.767C>G (p.Pro256Arg) rs12735723 0.00660
NM_000140.5(FECH):c.*5394G>T rs145935279 0.00656
NM_000140.5(FECH):c.*4883_*4884insC rs201434287 0.00633
NM_000140.5(FECH):c.*4458C>T rs113000324 0.00623
NM_005236.3(ERCC4):c.2617A>G (p.Ile873Val) rs2020957 0.00577
NM_000140.5(FECH):c.*3841C>T rs143797631 0.00547
NM_000374.5(UROD):c.952G>A (p.Gly318Arg) rs116233118 0.00531
NM_000374.5(UROD):c.758T>A (p.Leu253Gln) rs36033115 0.00527
NM_005236.3(ERCC4):c.*2816A>T rs146325817 0.00527
NM_005236.3(ERCC4):c.*947T>C rs117293226 0.00520
NM_005236.3(ERCC4):c.*3200A>G rs8056393 0.00516
NM_000374.5(UROD):c.450G>A (p.Pro150=) rs2234479 0.00475
NM_005236.3(ERCC4):c.1135C>T (p.Pro379Ser) rs1799802 0.00456
NM_000031.5(ALAD):c.-155C>G rs7026518 0.00450
NM_006502.3(POLH):c.*639G>A rs9333557 0.00444
NM_004628.5(XPC):c.1443G>T (p.Lys481Asn) rs182616621 0.00437
NM_000057.4(BLM):c.4076+4T>G rs183176301 0.00436
NM_006502.3(POLH):c.*1201C>T rs9333562 0.00414
NM_177417.3(KLC3):c.*100C>T rs142103003 0.00388
NM_006502.3(POLH):c.*546T>G rs150227941 0.00378
NM_000190.4(HMBS):c.-28A>C rs201349602 0.00371
NM_000123.4(ERCC5):c.945C>T (p.His315=) rs34061299 0.00370
NM_000031.6(ALAD):c.468G>A (p.Ala156=) rs41305619 0.00341
NM_000123.4(ERCC5):c.1880C>A (p.Ala627Glu) rs2227870 0.00340
NM_005236.3(ERCC4):c.*3727G>T rs560338292 0.00312
NM_000057.4(BLM):c.2160C>T (p.Ile720=) rs28385028 0.00303
NM_001382.4(DPAGT1):c.*159G>A rs74992671 0.00301
NM_005236.3(ERCC4):c.*3439G>A rs192113185 0.00297
NM_000140.5(FECH):c.*5140G>A rs55987829 0.00291
NM_005236.3(ERCC4):c.2724C>T (p.Val908=) rs3136225 0.00290
NM_000140.5(FECH):c.*1479T>C rs112062178 0.00287
NM_005236.3(ERCC4):c.*3911C>T rs552082015 0.00285
NM_005236.3(ERCC4):c.*2139A>C rs140019040 0.00284
NM_005236.3(ERCC4):c.*1708G>A rs528435639 0.00281
NM_000057.4(BLM):c.1928G>A (p.Arg643His) rs12720097 0.00279
NM_000123.4(ERCC5):c.2778C>G (p.Gly926=) rs9518857 0.00270
NM_000107.3(DDB2):c.738G>A (p.Thr246=) rs144266685 0.00268
NM_006502.3(POLH):c.*2269C>T rs140288120 0.00257
NM_000140.5(FECH):c.*3567G>A rs556538397 0.00255
NM_000107.3(DDB2):c.1228G>A (p.Ala410Thr) rs143049891 0.00254
NM_005236.3(ERCC4):c.2579C>A (p.Ala860Asp) rs4986933 0.00253
NM_006502.3(POLH):c.626G>T (p.Gly209Val) rs2307456 0.00253
NM_000031.6(ALAD):c.*317T>G rs538745327 0.00245
NM_000140.5(FECH):c.*4597T>C rs147684323 0.00237
NM_000140.5(FECH):c.*2788G>A rs145954113 0.00234
NM_000031.6(ALAD):c.*771C>T rs149384214 0.00233
NM_005236.3(ERCC4):c.*701A>T rs146955145 0.00232
NM_000122.2(ERCC3):c.2111C>T (p.Ser704Leu) rs4150521 0.00227
NM_000375.3(UROS):c.27G>A (p.Ala9=) rs150059279 0.00225
NM_000400.4(ERCC2):c.1832-6C>T rs1799789 0.00211
NM_000057.4(BLM):c.4077-10C>T rs145310008 0.00209
NM_005236.3(ERCC4):c.1488A>T (p.Gln496His) rs146601373 0.00201
NM_000140.5(FECH):c.*936C>T rs144709743 0.00200
NM_006502.3(POLH):c.1572A>C (p.Gln524His) rs138752565 0.00198
NM_000123.4(ERCC5):c.3177C>T (p.Gly1059=) rs148856875 0.00196
NM_000031.6(ALAD):c.15C>T (p.Ser5=) rs144608303 0.00195
NM_005236.3(ERCC4):c.1812-5T>C rs2020952 0.00194
NM_000140.5(FECH):c.*347G>A rs113392534 0.00192
NM_000400.4(ERCC2):c.*216G>A rs534559459 0.00181
NM_000140.5(FECH):c.*5143C>T rs139987131 0.00176
NM_001382.4(DPAGT1):c.994T>G (p.Phe332Val) rs138544311 0.00172
NM_000140.5(FECH):c.*4056C>T rs181920623 0.00166
NM_006502.3(POLH):c.*1336G>A rs9333563 0.00166
NM_000122.2(ERCC3):c.-19C>T rs184301749 0.00158
NM_006502.3(POLH):c.*998A>G rs550215250 0.00153
NM_000140.5(FECH):c.*3339G>A rs113928110 0.00152
NM_000400.4(ERCC2):c.2191-4G>A rs201840907 0.00143
NM_000057.4(BLM):c.*77T>A rs116293756 0.00124
NM_000123.4(ERCC5):c.3356C>T (p.Ala1119Val) rs2227871 0.00116
NM_000400.4(ERCC2):c.47A>G (p.Tyr16Cys) rs147972150 0.00114
NM_006502.3(POLH):c.*3250G>A rs183729246 0.00114
NM_000031.6(ALAD):c.*1803A>G rs41276803 0.00113
NM_000123.4(ERCC5):c.2818G>A (p.Val940Met) rs146344855 0.00113
NM_000140.5(FECH):c.*4367C>T rs146417207 0.00112
NM_000140.5(FECH):c.801G>A (p.Met267Ile) rs118204037 0.00108
NM_000140.5(FECH):c.*3804G>A rs190604320 0.00107
NM_005236.3(ERCC4):c.974-6T>C rs201181735 0.00106
NM_000057.4(BLM):c.11T>C (p.Val4Ala) rs144706057 0.00104
NM_006502.3(POLH):c.*4928T>C rs556045922 0.00104
NM_000400.4(ERCC2):c.1737C>T (p.Val579=) rs3916876 0.00096
NM_006502.3(POLH):c.*4959T>A rs185032976 0.00093
NM_000140.5(FECH):c.*4829C>T rs565989254 0.00092
NM_000057.4(BLM):c.2362C>A (p.Leu788Ile) rs149754073 0.00086
NM_006502.3(POLH):c.698A>G (p.Asn233Ser) rs61756403 0.00083
NM_000057.4(BLM):c.3592G>A (p.Val1198Met) rs142928725 0.00082
NM_000140.5(FECH):c.*1508G>A rs540286571 0.00081
NM_004628.5(XPC):c.2421-11T>C rs3731167 0.00070
NM_000140.5(FECH):c.*1915G>T rs148459563 0.00067
NM_000375.3(UROS):c.*96G>A rs182303293 0.00063
NM_000140.5(FECH):c.*3129C>T rs137955859 0.00060
NM_000031.6(ALAD):c.-131C>T rs531786276 0.00058
NM_000140.5(FECH):c.*4445G>A rs578202706 0.00053
NM_000190.4(HMBS):c.257A>T (p.Glu86Val) rs150763621 0.00051
NM_004628.4(XPC):c.-58C>T rs573720507 0.00051
NM_004628.5(XPC):c.*270A>G rs564228132 0.00050
NM_006502.3(POLH):c.1603A>G (p.Lys535Glu) rs56307355 0.00050
NM_006502.3(POLH):c.2028C>T (p.Ala676=) rs140971385 0.00045
NM_000140.5(FECH):c.*1567A>G rs574153215 0.00044
NM_000140.5(FECH):c.362A>G (p.Glu121Gly) rs141813907 0.00043
NM_000031.6(ALAD):c.*1473G>A rs1062685 0.00040
NM_006502.3(POLH):c.*2513A>T rs111841811 0.00037
NM_000031.6(ALAD):c.*1381G>A rs140946306 0.00036
NM_000140.5(FECH):c.*1032G>A rs140863287 0.00034
NM_000140.5(FECH):c.*2443T>G rs201834035 0.00034
NM_000375.3(UROS):c.-27+10G>A rs376517536 0.00032
NM_001382.4(DPAGT1):c.*265A>G rs28990974 0.00029
NM_005236.3(ERCC4):c.*1353G>A rs77401662 0.00026
NM_000380.4(XPA):c.568T>G (p.Ser190Ala) rs555812588 0.00025
NM_005236.3(ERCC4):c.973+11A>T rs185779788 0.00025
NM_000375.3(UROS):c.740C>T (p.Thr247Met) rs199925121 0.00024
NM_000140.5(FECH):c.913-13A>G rs200538834 0.00022
NM_000140.5(FECH):c.*1054T>C rs192343321 0.00020
NM_000123.4(ERCC5):c.1926A>G (p.Glu642=) rs575691378 0.00019
NM_000380.4(XPA):c.289G>A (p.Val97Ile) rs10983315 0.00019
NM_000140.5(FECH):c.*2644A>G rs558443758 0.00017
NM_000140.5(FECH):c.132C>T (p.Ala44=) rs147500247 0.00017
NM_000122.2(ERCC3):c.29-15G>T rs188356418 0.00016
NM_000190.4(HMBS):c.1026G>A (p.Leu342=) rs199845143 0.00016
NM_000123.4(ERCC5):c.2890C>T (p.Arg964Trp) rs574826021 0.00013
NM_000140.5(FECH):c.*3691C>T rs148141502 0.00013
NM_000190.4(HMBS):c.717C>T (p.His239=) rs114025170 0.00013
NM_000190.4(HMBS):c.723C>T (p.Pro241=) rs202067277 0.00012
NM_005236.3(ERCC4):c.2647G>A (p.Glu883Lys) rs201652412 0.00012
NM_000057.4(BLM):c.2293G>A (p.Val765Ile) rs191789336 0.00011
NM_000123.4(ERCC5):c.1563A>G (p.Glu521=) rs4150317 0.00011
NM_000140.5(FECH):c.385G>A (p.Gly129Arg) rs138714094 0.00011
NM_000380.4(XPA):c.172+11C>T rs766386535 0.00011
NM_005236.3(ERCC4):c.1342G>C (p.Glu448Gln) rs547209644 0.00010
NM_000190.4(HMBS):c.612+4G>A rs745705652 0.00009
NM_000057.4(BLM):c.178T>A (p.Leu60Ile) rs138542210 0.00007
NM_000097.7(CPOX):c.1266T>A (p.Pro422=) rs563304155 0.00005
NM_000140.5(FECH):c.*3716C>T rs567960865 0.00005
NM_000140.5(FECH):c.*592C>T rs577112809 0.00005
NM_004628.5(XPC):c.105T>A (p.Asp35Glu) rs202128104 0.00005
NM_000031.6(ALAD):c.692G>A (p.Arg231Gln) rs201420740 0.00004
NM_000400.4(ERCC2):c.1426G>A (p.Val476Ile) rs531021258 0.00004
NM_000400.4(ERCC2):c.387C>T (p.Asp129=) rs199993007 0.00004
NM_005236.3(ERCC4):c.*558A>C rs376791839 0.00004
NM_000097.7(CPOX):c.1028A>T (p.Asp343Val) rs201071538 0.00003
NM_000097.7(CPOX):c.1172+7G>A rs778215224 0.00002
NM_000190.4(HMBS):c.105G>C (p.Thr35=) rs370081222 0.00002
NM_000031.6(ALAD):c.-4C>T rs755977870 0.00001
NM_000123.4(ERCC5):c.76A>G (p.Ile26Val) rs371937705 0.00001
NM_000140.5(FECH):c.*2840C>T rs568628377 0.00001
NM_000140.5(FECH):c.514G>A (p.Glu172Lys) rs200650502 0.00001
NM_000031.5(ALAD):c.-162_-161dup rs143518565
NM_000031.5(ALAD):c.-162dup rs143518565
NM_000097.7(CPOX):c.*28del rs144234554
NM_000097.7(CPOX):c.487G>T (p.Val163Leu) rs535432218
NM_000107.3(DDB2):c.577G>A (p.Val193Ile) rs200406558
NM_000140.5(FECH):c.*1039G>A rs185134664
NM_000140.5(FECH):c.*4368G>A rs543603003
NM_000140.5(FECH):c.*4793TTA[1] rs137860528
NM_000140.5(FECH):c.*5139C>T rs151197779
NM_000140.5(FECH):c.163G>T (p.Gly55Cys) rs3848519
NM_000190.4(HMBS):c.962G>A (p.Arg321His) rs150428209
NM_004628.5(XPC):c.*611T>A rs2470352
NM_004628.5(XPC):c.1000C>T (p.Pro334Ser) rs200338014
NM_006502.3(POLH):c.*4414dup rs55760315
NM_006502.3(POLH):c.1896A>G (p.Gln632=) rs139476900

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