List of variants reported as likely pathogenic for Xeroderma pigmentosum group B; Trichothiodystrophy 2, photosensitive by Fulgent Genetics, Fulgent Genetics

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_000122.2(ERCC3):c.1354C>T (p.Arg452Ter)	rs150954655	0.00015
NM_000122.2(ERCC3):c.1757del (p.Gln586fs)	rs753182861	0.00013
NM_000122.2(ERCC3):c.1421dup (p.Asp474fs)	rs587778281	0.00007
NM_000122.2(ERCC3):c.1720C>T (p.Arg574Ter)	rs768687646	0.00004
NM_000122.2(ERCC3):c.1115_1120dup (p.Trp374Ter)	rs778865255	0.00003
NM_000122.2(ERCC3):c.1757_1758del (p.Gln586fs)	rs774261851	0.00003
NM_000122.2(ERCC3):c.1162C>T (p.Gln388Ter)	rs1055129064	0.00001
NM_000122.2(ERCC3):c.1300G>T (p.Glu434Ter)	rs1434876636	0.00001
NM_000122.2(ERCC3):c.1588C>T (p.Arg530Ter)	rs1302552127	0.00001
NM_000122.2(ERCC3):c.1828-1G>C	rs755760603	0.00001
NM_000122.2(ERCC3):c.2131C>T (p.Gln711Ter)	rs763315862	0.00001
NM_000122.2(ERCC3):c.657+1G>A	rs56116802	0.00001
NM_000122.2(ERCC3):c.1114del (p.Glu372fs)
NM_000122.2(ERCC3):c.1762dup (p.Glu588fs)	rs770925947
NM_000122.2(ERCC3):c.1832del (p.Gly611fs)

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