ClinVar Miner

List of variants in gene combination FANCL, VRK2 reported as uncertain significance for Fanconi anemia

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_018062.4(FANCL):c.1121A>G (p.Lys374Arg) rs745544496 0.00003
NC_000002.11:g.(?_58386900)_(58390229_?)dup
NC_000002.11:g.(?_58386900)_(58393029_?)dup
NC_000002.11:g.(?_58386900)_(58468448_?)dup
NC_000002.12:g.(?_58159755)_(58241323_?)dup
NM_006296.7(VRK2):c.*102_*105dup rs759217526
NM_018062.4(FANCL):c.*447_*450del rs748896681
NM_018062.4(FANCL):c.1093-13T>A
NM_018062.4(FANCL):c.1096A>G (p.Ile366Val)
NM_018062.4(FANCL):c.1109T>C (p.Met370Thr) rs1684813547
NM_018062.4(FANCL):c.1118G>C (p.Arg373Thr)
NM_018062.4(FANCL):c.1123C>G (p.His375Asp)

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