ClinVar Miner

List of variants reported as uncertain significance for Fanconi anemia complementation group A by Revvity Omics, Revvity

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser) rs139235751 0.00230
NM_000135.4(FANCA):c.2658G>C (p.Glu886Asp) rs139002130 0.00055
NM_000135.4(FANCA):c.308C>T (p.Ser103Leu) rs147176389 0.00017
NM_000135.4(FANCA):c.4015C>T (p.Leu1339Phe) rs149775657 0.00015
NM_000135.4(FANCA):c.2949T>G (p.Ile983Met) rs188695241 0.00014
NM_000135.4(FANCA):c.3099C>A (p.Asp1033Glu) rs139289675 0.00011
NM_000135.4(FANCA):c.4244T>G (p.Phe1415Cys) rs201658945 0.00006
NM_000135.4(FANCA):c.3610C>T (p.Arg1204Trp) rs759303096 0.00003
NM_000135.4(FANCA):c.1244T>C (p.Met415Thr) rs912838333 0.00001
NM_000135.4(FANCA):c.2817T>G (p.Ile939Met) rs769970040 0.00001
NM_000135.4(FANCA):c.1408C>A (p.Leu470Met) rs752092543
NM_000135.4(FANCA):c.1567G>T (p.Val523Phe)
NM_000135.4(FANCA):c.1960A>T (p.Thr654Ser)
NM_000135.4(FANCA):c.2671C>T (p.Leu891Phe)
NM_000135.4(FANCA):c.3154T>C (p.Phe1052Leu)
NM_000135.4(FANCA):c.3422C>A (p.Ala1141Asp) rs587778318
NM_000135.4(FANCA):c.3850G>A (p.Ala1284Thr) rs142919010
NM_000135.4(FANCA):c.505G>C (p.Glu169Gln)
NM_000135.4(FANCA):c.761GAA[1] (p.Arg255del) rs555210441

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