ClinVar Miner

List of variants reported as benign for Xeroderma pigmentosum

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_004628.5(XPC):c.*684G>C rs1126547 0.88734
NM_024334.3(TMEM43):c.*115T>C rs1043943 0.65275
NM_004628.5(XPC):c.2815C>A (p.Gln939Lys) rs2228001 0.64910
NM_004628.5(XPC):c.*96C>G rs2229090 0.22489
NM_024334.3(TMEM43):c.*719G>T rs3796308 0.06070
NM_004628.5(XPC):c.1001C>A (p.Pro334His) rs74737358 0.00740
NM_005236.3(ERCC4):c.2617A>G (p.Ile873Val) rs2020957 0.00577
NM_005236.3(ERCC4):c.2724C>T (p.Val908=) rs3136225 0.00290
NM_000400.4(ERCC2):c.417C>G (p.Ala139=) rs145239390 0.00287
NM_006502.3(POLH):c.626G>T (p.Gly209Val) rs2307456 0.00253
NM_004628.5(XPC):c.2232A>C (p.Pro744=) rs189619298 0.00221
NM_000400.4(ERCC2):c.1832-6C>T rs1799789 0.00211
NM_000400.4(ERCC2):c.2191-4G>A rs201840907 0.00143
NM_000400.4(ERCC2):c.1904C>T (p.Ala635Val) rs34517175 0.00068
NM_006502.3(POLH):c.1603A>G (p.Lys535Glu) rs56307355 0.00050
NM_000380.4(XPA):c.568T>G (p.Ser190Ala) rs555812588 0.00025
NM_005236.3(ERCC4):c.*2577del rs61422086
NM_005236.3(ERCC4):c.*3953del rs397778750
NM_005236.3(ERCC4):c.241G>T (p.Val81Phe) rs55761944
NM_006502.3(POLH):c.*2043dup rs368089629
NM_024334.3(TMEM43):c.*766CAAAA[1] rs141474582

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