ClinVar Miner

List of variants in gene FANCA reported as pathogenic by GeneDx

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Gene type:
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Total variants: 3
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HGVS dbSNP
NM_000135.2(FANCA):c.3349A>G (p.Arg1117Gly) rs149277003
NM_000135.2(FANCA):c.3391A>G (p.Thr1131Ala) rs574034197
NM_000135.2(FANCA):c.987_990delTCAC (p.His330Alafs) rs772359099

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