ClinVar Miner

List of variants reported as uncertain significance for hereditary photodermatosis by Baylor Genetics

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 73
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HGVS dbSNP gnomAD frequency
NM_004260.4(RECQL4):c.3337G>C (p.Gly1113Arg) rs35101495 0.00313
NM_004260.4(RECQL4):c.3392G>A (p.Arg1131Lys) rs201369291 0.00274
NM_000057.4(BLM):c.11T>C (p.Val4Ala) rs144706057 0.00104
NM_004628.5(XPC):c.1177C>T (p.Arg393Trp) rs121965090 0.00098
NM_004260.4(RECQL4):c.1868G>A (p.Arg623His) rs201734382 0.00070
NM_004628.5(XPC):c.37G>C (p.Gly13Arg) rs201273381 0.00057
NM_004260.4(RECQL4):c.2543G>A (p.Arg848His) rs368989729 0.00049
NM_004260.4(RECQL4):c.8G>T (p.Arg3Leu) rs979012066 0.00030
NM_000097.7(CPOX):c.1339C>T (p.Arg447Cys) rs28931603 0.00025
NM_004260.4(RECQL4):c.2953G>A (p.Val985Met) rs200629599 0.00024
NM_004260.4(RECQL4):c.1159G>A (p.Gly387Arg) rs202043854 0.00023
NM_000031.6(ALAD):c.874G>A (p.Gly292Arg) rs200781693 0.00021
NM_000057.4(BLM):c.3751+10C>T rs199685140 0.00016
NM_000380.4(XPA):c.683G>A (p.Arg228Gln) rs1805160 0.00015
NM_000057.4(BLM):c.1097T>C (p.Ile366Thr) rs571152089 0.00011
NM_000057.4(BLM):c.1315A>G (p.Met439Val) rs201231857 0.00011
NM_000057.4(BLM):c.2638G>C (p.Glu880Gln) rs201770808 0.00010
NM_004628.5(XPC):c.203A>T (p.Asp68Val) rs56012223 0.00010
NM_004628.5(XPC):c.1133G>A (p.Arg378Lys) rs533121927 0.00009
NM_004260.4(RECQL4):c.2069C>T (p.Thr690Met) rs369950284 0.00008
NM_004260.4(RECQL4):c.2492A>G (p.His831Arg) rs754324912 0.00008
NM_004260.4(RECQL4):c.865G>A (p.Ala289Thr) rs200382712 0.00008
NM_004628.5(XPC):c.1616A>G (p.Glu539Gly) rs563236303 0.00008
NM_000107.3(DDB2):c.511C>G (p.Gln171Glu) rs201703288 0.00007
NM_000140.5(FECH):c.959A>G (p.Lys320Arg) rs371224528 0.00007
NM_000057.4(BLM):c.1237G>A (p.Glu413Lys) rs887921909 0.00006
NM_004260.4(RECQL4):c.2144G>A (p.Arg715Gln) rs184775551 0.00006
NM_004260.4(RECQL4):c.2477G>A (p.Arg826Gln) rs770800467 0.00006
NM_004260.4(RECQL4):c.3347C>T (p.Pro1116Leu) rs368671582 0.00005
NM_004628.5(XPC):c.17C>G (p.Ala6Gly) rs770358796 0.00005
NM_000057.4(BLM):c.3556A>G (p.Lys1186Glu) rs750532596 0.00004
NM_004260.4(RECQL4):c.2755G>A (p.Ala919Thr) rs186739072 0.00004
NM_004260.4(RECQL4):c.2780T>C (p.Leu927Pro) rs774274636 0.00004
NM_004260.4(RECQL4):c.3231T>A (p.Phe1077Leu) rs745453660 0.00004
NM_004260.4(RECQL4):c.3287G>A (p.Arg1096His) rs765087683 0.00004
NM_000057.4(BLM):c.2840T>C (p.Ile947Thr) rs1024172175 0.00003
NM_000190.4(HMBS):c.655G>T (p.Ala219Ser) rs767103817 0.00003
NM_004628.5(XPC):c.2525A>G (p.Lys842Arg) rs559844668 0.00003
NM_004628.5(XPC):c.26G>T (p.Gly9Val) rs376802950 0.00003
NM_000057.4(BLM):c.3949G>A (p.Glu1317Lys) rs730880251 0.00002
NM_004260.4(RECQL4):c.1488C>G (p.Ile496Met) rs1358382637 0.00002
NM_004260.4(RECQL4):c.1637C>T (p.Pro546Leu) rs377298374 0.00002
NM_004260.4(RECQL4):c.3428T>C (p.Ile1143Thr) rs759478327 0.00002
NM_004260.4(RECQL4):c.536T>A (p.Leu179Gln) rs753361853 0.00002
NM_004628.5(XPC):c.1455G>T (p.Arg485Ser) rs368618553 0.00002
NM_000057.4(BLM):c.1436T>G (p.Phe479Cys) rs1418071613 0.00001
NM_000057.4(BLM):c.1490A>G (p.Gln497Arg) rs368547042 0.00001
NM_000057.4(BLM):c.3210+4A>G rs776621429 0.00001
NM_000057.4(BLM):c.3637G>A (p.Glu1213Lys) rs28385142 0.00001
NM_000057.4(BLM):c.4140T>G (p.Ser1380Arg) rs747834576 0.00001
NM_000380.4(XPA):c.323G>A (p.Cys108Tyr) rs104894131 0.00001
NM_004260.4(RECQL4):c.1108C>T (p.Arg370Cys) rs368979398 0.00001
NM_004260.4(RECQL4):c.3263G>A (p.Cys1088Tyr) rs780200030 0.00001
NM_004260.4(RECQL4):c.3497G>A (p.Gly1166Asp) rs1416975304 0.00001
NM_004260.4(RECQL4):c.3545G>A (p.Arg1182His) rs557256260 0.00001
NM_004260.4(RECQL4):c.688C>T (p.Pro230Ser) rs745571670 0.00001
NM_004628.5(XPC):c.728G>A (p.Arg243Lys) rs762480645 0.00001
NM_000057.4(BLM):c.2318G>A (p.Ser773Asn) rs1896222659
NM_000057.4(BLM):c.2329A>G (p.Ile777Val) rs764097842
NM_000057.4(BLM):c.2537A>C (p.Lys846Thr) rs2151166394
NM_000057.4(BLM):c.3775G>A (p.Val1259Ile) rs1897348236
NM_000107.3(DDB2):c.52C>T (p.Arg18Cys) rs201229167
NM_000400.4(ERCC2):c.949+3G>T rs997825199
NM_004260.4(RECQL4):c.1130A>G (p.Gln377Arg) rs944826681
NM_004260.4(RECQL4):c.1396C>G (p.Pro466Ala) rs562809072
NM_004260.4(RECQL4):c.1439C>A (p.Ala480Asp) rs767337200
NM_004260.4(RECQL4):c.2086C>A (p.Arg696Ser) rs531970883
NM_004260.4(RECQL4):c.2273G>C (p.Arg758Pro) rs748416710
NM_004260.4(RECQL4):c.2296C>T (p.Arg766Trp) rs1586802958
NM_004260.4(RECQL4):c.2463+5G>A rs1264630646
NM_004260.4(RECQL4):c.3313G>C (p.Gly1105Arg) rs34915097
NM_004628.5(XPC):c.1946T>C (p.Leu649Pro) rs1695909488
NM_014171.6(CRIPT):c.242-19A>T rs866376607

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