ClinVar Miner

List of variants reported as likely benign for xeroderma pigmentosum group G by Illumina Laboratory Services, Illumina

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_000123.4(ERCC5):c.945C>T (p.His315=) rs34061299 0.00370
NM_000123.4(ERCC5):c.1880C>A (p.Ala627Glu) rs2227870 0.00325
NM_000123.4(ERCC5):c.2778C>G (p.Gly926=) rs9518857 0.00270
NM_000123.4(ERCC5):c.3177C>T (p.Gly1059=) rs148856875 0.00196
NM_000123.4(ERCC5):c.3356C>T (p.Ala1119Val) rs2227871 0.00116
NM_000123.4(ERCC5):c.2818G>A (p.Val940Met) rs146344855 0.00113
NM_000123.4(ERCC5):c.1563A>G (p.Glu521=) rs4150317 0.00011
NM_000123.4(ERCC5):c.1926A>G (p.Glu642=) rs575691378 0.00001
NM_000123.4(ERCC5):c.2890C>T (p.Arg964Trp) rs574826021 0.00001
NM_000123.4(ERCC5):c.76A>G (p.Ile26Val) rs371937705 0.00001

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