ClinVar Miner

List of variants reported as likely pathogenic for xeroderma pigmentosum group D by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_000400.4(ERCC2):c.2150C>G (p.Ala717Gly) rs144564120 0.00029
NM_000400.4(ERCC2):c.1377+2T>C rs201505264 0.00004
NM_000400.4(ERCC2):c.1972C>T (p.Arg658Cys) rs121913021 0.00004
NM_000400.4(ERCC2):c.2173G>C (p.Ala725Pro) rs121913018 0.00004
NM_000400.4(ERCC2):c.466C>T (p.Arg156Ter) rs151235136 0.00004
NM_000400.4(ERCC2):c.1666-2A>T rs199658345 0.00002
NM_000400.4(ERCC2):c.1308-2A>G rs766369300 0.00001
NM_000400.4(ERCC2):c.1759-2A>G rs774936846 0.00001
NM_000400.4(ERCC2):c.2143C>T (p.Gln715Ter) rs774392894 0.00001
NM_000400.4(ERCC2):c.334C>T (p.Arg112Cys) rs760820378 0.00001
NM_000400.4(ERCC2):c.1007dup (p.Leu337fs) rs2123286013
NM_000400.4(ERCC2):c.1017C>A (p.Tyr339Ter)
NM_000400.4(ERCC2):c.1084_1087dup (p.Gln363fs)
NM_000400.4(ERCC2):c.1361TCA[2] (p.Ile456del) rs750123656
NM_000400.4(ERCC2):c.1377_1378insTT (p.Thr460fs)
NM_000400.4(ERCC2):c.1480-2A>C rs1971989621
NM_000400.4(ERCC2):c.1543+2T>A
NM_000400.4(ERCC2):c.1623C>G (p.Ser541Arg)
NM_000400.4(ERCC2):c.1802G>T (p.Arg601Leu)
NM_000400.4(ERCC2):c.184-1_186del
NM_000400.4(ERCC2):c.1847G>A (p.Arg616Gln) rs376556895
NM_000400.4(ERCC2):c.1847_1850del (p.Arg616fs)
NM_000400.4(ERCC2):c.1852_1871dup (p.Tyr625fs)
NM_000400.4(ERCC2):c.195_196delinsTT (p.Glu66Ter)
NM_000400.4(ERCC2):c.1984_1985del (p.Gln662fs)
NM_000400.4(ERCC2):c.1987T>C (p.Cys663Arg)
NM_000400.4(ERCC2):c.2006_2007insA (p.Lys671fs) rs1971844960
NM_000400.4(ERCC2):c.2047-13_2048del rs1327017125
NM_000400.4(ERCC2):c.2125A>C (p.Thr709Pro)
NM_000400.4(ERCC2):c.2141_2148del (p.Val714fs)
NM_000400.4(ERCC2):c.2190+1G>C
NM_000400.4(ERCC2):c.419_423del (p.Ser140fs)
NM_000400.4(ERCC2):c.566G>A (p.Trp189Ter)
NM_000400.4(ERCC2):c.570C>A (p.Cys190Ter)
NM_000400.4(ERCC2):c.594+2_594+5del rs762309206
NM_000400.4(ERCC2):c.849dup (p.Glu284fs)
NM_000400.4(ERCC2):c.852del (p.Glu284fs)

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