List of variants reported as likely pathogenic for hereditary photodermatosis by Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000190.4(HMBS):c.891dup (p.Thr298fs)	rs1565758795
NM_004260.4(RECQL4):c.2336_2357del (p.Asp779fs)	rs1554898257
NM_004260.4(RECQL4):c.3293_3294insGCAGGATGAGGAGCGCAGCA (p.Arg1099fs)	rs1554896308

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