List of variants in gene combination ALDOA, LOC112694756 reported as likely pathogenic for HNSHA due to aldolase A deficiency

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001243177.4(ALDOA):c.786+2T>C	rs892947296	0.00001
NM_001243177.4(ALDOA):c.787-2A>G	rs1340894214	0.00001
NM_001243177.4(ALDOA):c.1001C>T (p.Ala334Val)	rs2151019295
NM_001243177.4(ALDOA):c.1178G>A (p.Cys393Tyr)	rs2151019809
NM_001243177.4(ALDOA):c.702+1G>A

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