List of variants reported as pathogenic for hereditary photodermatosis by 3billion

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_000380.4(XPA):c.682C>T (p.Arg228Ter)	rs104894132	0.00033
NM_004628.5(XPC):c.1243C>T (p.Arg415Ter)	rs757958943	0.00005
NM_000380.4(XPA):c.619C>T (p.Arg207Ter)	rs104894133	0.00002
NM_000190.4(HMBS):c.673C>T (p.Arg225Ter)	rs1325031228	0.00001
NM_000380.4(XPA):c.390-1G>C	rs750218942	0.00001
NM_000057.4(BLM):c.99-8_112del	rs2151146678
NM_000107.3(DDB2):c.1187C>A (p.Ser396Ter)	rs781655324
NM_000190.4(HMBS):c.76C>T (p.Arg26Cys)	rs998842815
NM_000380.4(XPA):c.389+1G>A	rs1554701931
NM_004260.4(RECQL4):c.988dup (p.Ala330fs)	rs2130718434
NM_004628.5(XPC):c.1643_1644del (p.Val548fs)	rs754532049
NM_004628.5(XPC):c.2216_2217del (p.Glu739fs)	rs1559369237

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