ClinVar Miner

List of variants studied for Fanconi anemia complementation group A by Laboratory of Medical Genetics, National & Kapodistrian University of Athens

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000135.4(FANCA):c.3391A>G (p.Thr1131Ala) rs574034197 0.00009
NM_000135.4(FANCA):c.1827-1G>A rs555449842 0.00005
GRCh37/hg19 16q24.3(chr16:89818649-89883044)
NM_000135.4(FANCA):c.240_241del (p.Cys80_Asp81delinsTer) rs1363946483
NM_000135.4(FANCA):c.2602-13CT[2] rs577636020
NM_000135.4(FANCA):c.82G>T (p.Gly28Ter) rs2041102320

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