ClinVar Miner

List of variants reported as pathogenic for Fanconi anemia complementation group J

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Total variants: 37
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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.1871C>A (p.Ser624Ter) rs587781321 0.00006
NM_032043.3(BRIP1):c.918+1G>A rs587781655 0.00006
NM_032043.3(BRIP1):c.1045G>C (p.Ala349Pro) rs149364097 0.00004
NM_032043.3(BRIP1):c.751C>T (p.Arg251Cys) rs752309409 0.00004
NM_032043.3(BRIP1):c.1372G>T (p.Glu458Ter) rs587780228 0.00003
NM_032043.3(BRIP1):c.2492+2dup rs587780240 0.00003
NM_032043.3(BRIP1):c.2543G>A (p.Arg848His) rs374334794 0.00003
NM_032043.3(BRIP1):c.206-2A>G rs786203700 0.00001
NM_032043.3(BRIP1):c.2119C>T (p.Arg707Cys) rs764803896 0.00001
NM_032043.3(BRIP1):c.2765T>G (p.Leu922Ter) rs587782410 0.00001
NM_032043.3(BRIP1):c.484C>T (p.Arg162Ter) rs747604569 0.00001
NM_032043.3(BRIP1):c.1126_1127del (p.Gln376fs) rs587780224
NM_032043.3(BRIP1):c.1186C>G (p.His396Asp) rs1603342316
NM_032043.3(BRIP1):c.1340+1G>A rs1555607022
NM_032043.3(BRIP1):c.1510dup (p.Ile504fs) rs775735278
NM_032043.3(BRIP1):c.1629-498A>T rs1203185416
NM_032043.3(BRIP1):c.1853_1854insG (p.Pro619fs) rs587781985
NM_032043.3(BRIP1):c.1936-2A>G rs878855143
NM_032043.3(BRIP1):c.1941G>A (p.Trp647Ter) rs786202760
NM_032043.3(BRIP1):c.1941G>C (p.Trp647Cys) rs786202760
NM_032043.3(BRIP1):c.2010dup (p.Glu671Ter) rs775537066
NM_032043.3(BRIP1):c.205+2T>C rs1060501763
NM_032043.3(BRIP1):c.205+5G>T rs2078948368
NM_032043.3(BRIP1):c.2108delinsTCC (p.Lys703fs) rs786203384
NM_032043.3(BRIP1):c.2114_2118del (p.Lys705fs) rs864622611
NM_032043.3(BRIP1):c.2251_2254del (p.Glu751fs) rs1555591308
NM_032043.3(BRIP1):c.2255_2256del (p.Lys752fs) rs730881649
NM_032043.3(BRIP1):c.2400C>G (p.Tyr800Ter) rs574552037
NM_032043.3(BRIP1):c.2684_2687del (p.Val894_Ser895insTer) rs760551339
NM_032043.3(BRIP1):c.2905+1G>T rs876660203
NM_032043.3(BRIP1):c.2947del (p.Ile983fs) rs774684620
NM_032043.3(BRIP1):c.2990_2993del (p.Thr997fs) rs771028677
NM_032043.3(BRIP1):c.2992_2995del (p.Lys998fs) rs786203717
NM_032043.3(BRIP1):c.394dup (p.Thr132fs) rs587781416
NM_032043.3(BRIP1):c.508-1G>C rs864622277
NM_032043.3(BRIP1):c.765G>T (p.Gln255His) rs2078111971

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