ClinVar Miner

List of variants reported by Department of Hematology, University of Health Sciences

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000135.4(FANCA):c.2628C>A (p.Phe876Leu) rs368987148
NM_000135.4(FANCA):c.2648T>A (p.Leu883His) rs879255256
NM_000135.4(FANCA):c.2762A>T (p.Lys921Ile) rs879255255
NM_000135.4(FANCA):c.2839dup (p.Ser947fs) rs756367276

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