List of variants reported as pathogenic for DNA repair disease by Johns Hopkins Genomics, Johns Hopkins University

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000135.4(FANCA):c.3349A>G (p.Arg1117Gly)	rs149277003	0.00006
NM_018319.4(TDP1):c.1478A>G (p.His493Arg)	rs119467003	0.00002
NM_000135.4(FANCA):c.1734_1739del (p.Tyr578_Val580delinsTer)	rs757504102	0.00001
NM_000400.4(ERCC2):c.2048G>A (p.Arg683Gln)	rs758439420	0.00001
NM_000251.3(MSH2):c.641_642insCAAATTGAGTCTAGTGATAA (p.Arg214fs)	rs2104042264
NM_000251.3(MSH2):c.643C>T (p.Gln215Ter)	rs63751274

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