ClinVar Miner

List of variants studied for HNSHA due to aldolase A deficiency by Illumina Laboratory Services, Illumina

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_001243177.4(ALDOA):c.1200C>T (p.Ser400=) rs77290575 0.01088
NM_001243177.4(ALDOA):c.*136C>T rs191226606 0.00274
NM_001243177.4(ALDOA):c.1201G>A (p.Gly401Ser) rs138824667 0.00256
NM_001243177.4(ALDOA):c.*96C>T rs886051897 0.00024
NM_001243177.4(ALDOA):c.1068C>T (p.Tyr356=) rs200761497 0.00019
NM_001243177.4(ALDOA):c.*76C>T rs886051896 0.00013
NM_001243177.4(ALDOA):c.*101G>A rs539833998 0.00009
NM_001243177.4(ALDOA):c.*72T>G rs886051895 0.00009
NM_001243177.4(ALDOA):c.275-5C>T rs752764982 0.00008
NM_001243177.4(ALDOA):c.223C>T (p.His75Tyr) rs766734350 0.00007
NM_001243177.4(ALDOA):c.1107C>T (p.Gly369=) rs142315181 0.00006
NM_001243177.4(ALDOA):c.312G>A (p.Glu104=) rs779556052 0.00004
NM_001243177.4(ALDOA):c.219C>T (p.Ile73=) rs773402743 0.00003
NM_001243177.4(ALDOA):c.226C>T (p.Arg76Cys) rs145582724 0.00003
NM_001243177.4(ALDOA):c.639C>G (p.Pro213=) rs758499704 0.00002
NM_001243177.4(ALDOA):c.1120A>T (p.Asn374Tyr) rs886051894 0.00001
NM_001243177.4(ALDOA):c.1134G>A (p.Ala378=) rs530089317 0.00001
NM_001243177.4(ALDOA):c.910G>A (p.Ala304Thr) rs886051893 0.00001
NM_001243177.4(ALDOA):c.364G>C (p.Asp122His) rs201468609
NM_001243177.4(ALDOA):c.437G>A (p.Arg146His) rs747482925
NM_001243177.4(ALDOA):c.541+17del rs886051891
NM_001243177.4(ALDOA):c.659A>G (p.Glu220Gly) rs886051892

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