ClinVar Miner

List of variants reported as likely pathogenic for HNSHA due to aldolase A deficiency by Laboratory of Medical Genetics, National & Kapodistrian University of Athens

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001243177.4(ALDOA):c.1001C>T (p.Ala334Val)	rs2151019295
NM_001243177.4(ALDOA):c.1178G>A (p.Cys393Tyr)	rs2151019809

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