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

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000400.4(ERCC2):c.1847G>C (p.Arg616Pro)	rs376556895	0.00010
NM_000400.4(ERCC2):c.2164C>T (p.Arg722Trp)	rs121913026	0.00009
NM_000400.4(ERCC2):c.2047C>T (p.Arg683Trp)	rs41556519	0.00003
NM_000400.4(ERCC2):c.2048G>A (p.Arg683Gln)	rs758439420	0.00001
NM_000400.4(ERCC2):c.1703_1704del (p.Phe568fs)	rs587778271

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