ClinVar Miner

List of variants reported as pathogenic for Xeroderma pigmentosum, group D

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_000400.4(ERCC2):c.1381C>G (p.Leu461Val) rs121913016 0.00030
NM_000400.4(ERCC2):c.2150C>G (p.Ala717Gly) rs144564120 0.00029
NM_000400.4(ERCC2):c.1847G>C (p.Arg616Pro) rs376556895 0.00010
NM_000400.4(ERCC2):c.335G>A (p.Arg112His) rs121913020 0.00006
NM_000400.4(ERCC2):c.1846C>T (p.Arg616Trp) rs121913024 0.00004
NM_000400.4(ERCC2):c.2047C>T (p.Arg683Trp) rs41556519 0.00003
NM_000400.4(ERCC2):c.2048G>A (p.Arg683Gln) rs758439420 0.00001
NM_000400.4(ERCC2):c.121G>T (p.Glu41Ter) rs1568546252
NM_000400.4(ERCC2):c.1454T>C (p.Leu485Pro) rs121913025
NM_000400.4(ERCC2):c.1621A>C (p.Ser541Arg) rs121913019
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.184-1G>T rs1568546120
NM_000400.4(ERCC2):c.2006_2007insA (p.Lys671fs) rs1971844960
NM_000400.4(ERCC2):c.2176C>T (p.Gln726Ter) rs121913017
NM_000400.4(ERCC2):c.298G>T (p.Glu100Ter) rs964247601
NM_000400.4(ERCC2):c.591_594del (p.Arg196_Tyr197insTer) rs767747355
NM_000400.4(ERCC2):c.851del (p.Glu284fs) rs2123288444
NM_000400.4(ERCC2):c.949+5G>A rs899469885

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