List of variants reported as likely pathogenic for DNA repair disease by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_018062.4(FANCL):c.1007_1009del (p.Ile336_Cys337delinsSer)	rs747253294	0.00034
NM_002485.5(NBN):c.127C>T (p.Arg43Ter)	rs200287925	0.00006
NM_000400.4(ERCC2):c.1479+2dup	rs776705174	0.00002
NM_001195248.2(APTX):c.124C>T (p.Arg42Ter)	rs201912053	0.00002
NM_001195248.2(APTX):c.46C>T (p.Arg16Ter)	rs1015321377	0.00001
NM_022725.4(FANCF):c.690del (p.Gly231fs)	rs747622521	0.00001
NM_000123.4(ERCC5):c.1173dup (p.Lys392Ter)	rs1283214655
NM_000123.4(ERCC5):c.3238G>T (p.Gly1080Ter)	rs9514067
NM_000135.4(FANCA):c.1952del (p.Gly651fs)
NM_000135.4(FANCA):c.2602-13CT[2]	rs577636020
NM_000135.4(FANCA):c.3273C>A (p.Cys1091Ter)	rs1450151864
NM_000136.3(FANCC):c.34del (p.Tyr12fs)
NM_001018115.3(FANCD2):c.1278+1G>T
NM_004629.2(FANCG):c.1771_1772del (p.Leu591fs)
NM_032043.3(BRIP1):c.2258-2A>G
NM_032043.3(BRIP1):c.2947del (p.Ile983fs)	rs774684620

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