ClinVar Miner

List of variants reported as benign for Xeroderma pigmentosum by Illumina Laboratory Services, Illumina

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Total variants: 9
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HGVS dbSNP gnomAD frequency
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 0.22357
NM_024334.3(TMEM43):c.*719G>T rs3796308 0.05531
NM_004628.5(XPC):c.*684G>C rs1126547
NM_005236.3(ERCC4):c.*2577del rs61422086
NM_005236.3(ERCC4):c.*3953del rs397778750
NM_006502.3(POLH):c.*2043dup rs368089629
NM_024334.3(TMEM43):c.*766CAAAA[1] rs141474582

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