List of variants reported as pathogenic for Xeroderma pigmentosum variant type by OMIM

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_006502.3(POLH):c.1603A>G (p.Lys535Glu)	rs56307355	0.00028
NM_006502.3(POLH):c.1766A>C (p.Lys589Thr)	rs121908565	0.00001
NM_006502.3(POLH):c.207del (p.Lys70fs)	rs1176350430	0.00001
NM_006502.3(POLH):c.106_118del (p.Val36fs)	rs2127773185
NM_006502.3(POLH):c.1117C>T (p.Gln373Ter)	rs121908564
NM_006502.3(POLH):c.222TCT[1] (p.Leu77del)	rs1426687865
NM_006502.3(POLH):c.376C>T (p.Gln126Ter)	rs121908563
NM_006502.3(POLH):c.54_57del (p.Val19fs)	rs2127773120
NM_006502.3(POLH):c.663_764+2del	rs2127799895
NM_006502.3(POLH):c.916G>T (p.Glu306Ter)	rs121908562
POLH, 2-BP DEL, NT770
POLH, DEL AND TRP297TER

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