ClinVar Miner

List of variants studied for Xeroderma pigmentosum, group G by Mendelics

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Total variants: 5
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NM_000123.4(ERCC5):c.1768G>A (p.Val590Ile) rs4150318
NM_000123.4(ERCC5):c.1787C>G (p.Ala596Gly) rs1595383704
NM_000123.4(ERCC5):c.3157G>C (p.Gly1053Arg) rs9514066
NM_000123.4(ERCC5):c.3428C>T (p.Ala1143Val) rs376411022
NM_000123.4(ERCC5):c.840_841dup (p.Val281fs) rs1595382501

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