ClinVar Miner

List of variants studied for HNSHA due to aldolase A deficiency by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 15
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HGVS dbSNP gnomAD frequency
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_001365304.2(LOC112694756):c.*621+4C>T rs200278984 0.00204
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.322G>A (p.Glu108Lys) rs199852002 0.00001
NM_001243177.4(ALDOA):c.1141G>A (p.Glu381Lys)
NM_001243177.4(ALDOA):c.684T>C (p.Tyr228=) rs1596813728
NM_001243177.4(ALDOA):c.925A>G (p.Thr309Ala)
NM_001243177.4(ALDOA):c.966C>T (p.Ile322=)
NM_001365304.2(LOC112694756):c.*1509-16C>T
NM_001365304.2(LOC112694756):c.*833+17C>G rs78209292

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