List of variants in gene combination ALDOA, LOC112694756 reported as benign 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: 11

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HGVS	dbSNP	gnomAD frequency
NM_001365304.2(LOC112694756):c.*489-63G>C	rs9783783	0.52268
NM_001365304.2(LOC112694756):c.*1508+17G>T	rs2071390	0.13976
NM_001243177.4(ALDOA):c.1200C>T (p.Ser400=)	rs77290575	0.01088
NM_001365304.2(LOC112694756):c.*889-16C>A	rs78124282	0.00797
NM_001243177.4(ALDOA):c.411A>G (p.Thr137=)	rs76767223	0.00362
NM_001243177.4(ALDOA):c.1201G>A (p.Gly401Ser)	rs138824667	0.00256
NM_001243177.4(ALDOA):c.648C>G (p.Leu216=)	rs112110009	0.00124
NM_001243177.4(ALDOA):c.973C>T (p.Leu325=)	rs111252736	0.00022
NM_001243177.4(ALDOA):c.1068C>T (p.Tyr356=)	rs200761497	0.00019
NM_001365304.2(LOC112694756):c.*1308+17T>C	rs566755208
NM_001365304.2(LOC112694756):c.*833+17C>G	rs78209292

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