ClinVar Miner

List of variants reported as pathogenic for HNSHA due to aldolase A deficiency by Invitae

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NC_000016.9:g.(?_29802081)_(30199917_?)del
NM_001243177.4(ALDOA):c.1001C>T (p.Ala334Val)	rs2151019295
NM_001243177.4(ALDOA):c.349_361del (p.Leu117fs)

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