List of variants reported as likely pathogenic for DNA repair disease by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000136.3(FANCC):c.1533+1G>C	rs753885687	0.00001
NM_000124.4(ERCC6):c.1685+5G>A
NM_000124.4(ERCC6):c.4177del (p.Lys1392_Met1393insTer)	rs1850531575
NM_000400.4(ERCC2):c.594+2_594+5del	rs762309206
NM_002875.5(RAD51):c.590C>T (p.Thr197Ile)

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