ClinVar Miner

List of variants in gene FANCA reported as likely pathogenic by Molecular Diagnostics Laboratory,M Health: University of Minnesota

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Total variants: 7
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HGVS dbSNP
NM_000135.2:c.523_2601del
NM_000135.2:c.894_2641del
NM_000135.4(FANCA):c.1342T>C (p.Tyr448His) rs1567635573
NM_000135.4(FANCA):c.2164_2166CTG[1] (p.Leu723del) rs1567618907
NM_000135.4(FANCA):c.2738A>C (p.His913Pro) rs1302083447
NM_000135.4(FANCA):c.3070A>G (p.Met1024Val) rs1567603987
NM_000135.4(FANCA):c.3349-1G>A rs769862233

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