ClinVar Miner

List of variants reported as likely pathogenic for Fanconi anemia complementation group J by Revvity Omics, Revvity

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Total variants: 6
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HGVS dbSNP gnomAD frequency
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.1126C>T (p.Gln376Ter) rs1028347439
NM_032043.3(BRIP1):c.1341-1G>C
NM_032043.3(BRIP1):c.2576-2A>G rs869312763
NM_032043.3(BRIP1):c.2714del (p.Asn905fs) rs2144114210

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