ClinVar Miner

List of variants reported as likely benign for Fanconi anemia complementation group J by Illumina Laboratory Services, Illumina

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_032043.3(BRIP1):c.*729C>T rs137967725 0.00475
NM_032043.3(BRIP1):c.*152G>T rs540229694 0.00405
NM_032043.3(BRIP1):c.*3302G>T rs188292745 0.00362
NM_032043.3(BRIP1):c.577G>A (p.Val193Ile) rs4988346 0.00305
NM_032043.3(BRIP1):c.*1964T>C rs140267868 0.00297
NM_032043.3(BRIP1):c.2097+7G>A rs4988352 0.00271
NM_032043.3(BRIP1):c.2286T>C (p.Arg762=) rs61754141 0.00173
NM_032043.3(BRIP1):c.*3755A>G rs183234058 0.00149
NM_032043.3(BRIP1):c.918+15T>A rs117820198 0.00078
NM_032043.3(BRIP1):c.587A>G (p.Asn196Ser) rs550707862 0.00017
NM_032043.3(BRIP1):c.3099T>C (p.Pro1033=) rs202228407 0.00013
NM_032043.3(BRIP1):c.778A>G (p.Thr260Ala) rs138743097 0.00002
NM_032043.3(BRIP1):c.*3479A>G rs573351550 0.00001
NM_032043.3(BRIP1):c.*2908C>T rs549941795

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