List of variants reported as likely pathogenic for Cernunnos-XLF deficiency

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_024782.3(NHEJ1):c.16C>T (p.Gln6Ter)
NM_024782.3(NHEJ1):c.177+1G>A
NM_024782.3(NHEJ1):c.178-1G>A	rs1949868667
NM_024782.3(NHEJ1):c.1A>G (p.Met1Val)
NM_024782.3(NHEJ1):c.348dup (p.Phe117fs)
NM_024782.3(NHEJ1):c.390+1G>A
NM_024782.3(NHEJ1):c.529+1G>A	rs146783338
NM_024782.3(NHEJ1):c.530-1G>A	rs1481152382
NM_024782.3(NHEJ1):c.589-2A>G	rs753495484

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