List of variants reported as pathogenic for Fanconi anemia complementation group J by Leiden Open Variation Database

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter)	rs137852986	0.00010
NM_032043.3(BRIP1):c.1045G>C (p.Ala349Pro)	rs149364097	0.00004
NM_032043.3(BRIP1):c.2492+2dup	rs587780240	0.00003
NM_032043.3(BRIP1):c.2119C>T (p.Arg707Cys)	rs764803896	0.00001
NM_032043.3(BRIP1):c.1186C>G (p.His396Asp)	rs1603342316
NM_032043.3(BRIP1):c.1629-498A>T	rs1203185416
NM_032043.3(BRIP1):c.1941G>C (p.Trp647Cys)	rs786202760
NM_032043.3(BRIP1):c.205+5G>T	rs2078948368
NM_032043.3(BRIP1):c.2400C>G (p.Tyr800Ter)	rs574552037
NM_032043.3(BRIP1):c.765G>T (p.Gln255His)	rs2078111971

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