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)
		ClinVar version:

Total variants: 4

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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
NM_001365304.2(LOC112694756):c.*1133+2T>C
NM_001365304.2(LOC112694756):c.*1134-2A>G

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