List of variants reported as pathogenic for DNA repair disease by Department of Pediatrics, Memorial Sloan Kettering Cancer Center

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000122.2(ERCC3):c.325C>T (p.Arg109Ter)	rs34295337	0.00030
NM_000136.3(FANCC):c.456+4A>T	rs104886456	0.00021
NM_000535.7(PMS2):c.1A>G (p.Met1Val)	rs587779333	0.00004
NM_000535.7(PMS2):c.538-1G>C	rs988423880	0.00001
NM_000136.3(FANCC):c.487_490del (p.Glu163fs)	rs730881708
NM_002485.5(NBN):c.657_661del (p.Lys219fs)	rs587776650

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