ClinVar Miner

List of variants studied for Xeroderma pigmentosum, group D by Molecular Genetics, Royal Melbourne Hospital

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Total variants: 3
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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.139G>A (p.Gly47Arg) rs1360631927 0.00001
NM_000400.4(ERCC2):c.2066A>T (p.Lys689Met)

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