ClinVar Miner

List of variants studied for Xeroderma pigmentosum, complementation group b by OMIM

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Total variants: 7
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ERCC3, IVS14AS, C-A, -6
NM_000122.2(ERCC3):c.1273C>T (p.Arg425Ter) rs121913047
NM_000122.2(ERCC3):c.1421dup (p.Asp474fs) rs587778281
NM_000122.2(ERCC3):c.1633C>T (p.Gln545Ter) rs121913048
NM_000122.2(ERCC3):c.296T>C (p.Phe99Ser) rs121913045
NM_000122.2(ERCC3):c.471+1G>A rs1558964705
NM_000122.2(ERCC3):c.809_810del (p.Ser269_Phe270insTer) rs866379139

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