ClinVar Miner

List of variants in gene PHKA1 reported as benign for Glycogen storage disease IXd

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Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_002637.4(PHKA1):c.429C>T (p.Leu143=) rs138066694 0.02710
NM_002637.4(PHKA1):c.-229G>A rs782474797 0.00807
NM_002637.4(PHKA1):c.492C>T (p.Phe164=) rs149354112 0.00383
NM_002637.4(PHKA1):c.-261C>A rs782574152 0.00324
NM_002637.4(PHKA1):c.*231A>T rs374264624 0.00308
NM_002637.4(PHKA1):c.2462G>A (p.Arg821His) rs139803629 0.00280
NM_002637.4(PHKA1):c.*804C>T rs144538626 0.00263
NM_002637.4(PHKA1):c.2433C>T (p.Thr811=) rs61732499 0.00216
NM_002637.4(PHKA1):c.*500C>A rs148465718 0.00179
NM_002637.4(PHKA1):c.864+11A>G rs181490917 0.00116
NM_002637.4(PHKA1):c.3435C>T (p.Ile1145=) rs148981522 0.00094
NM_002637.4(PHKA1):c.238-4G>A rs782186877 0.00089
NM_002637.4(PHKA1):c.3523A>G (p.Met1175Val) rs201573707 0.00063
NM_002637.4(PHKA1):c.1141G>A (p.Asp381Asn) rs141251024 0.00059
NM_002637.4(PHKA1):c.2918-4A>G rs184136158 0.00056
NM_002637.4(PHKA1):c.2229+15G>T rs552106907 0.00055
NM_002637.4(PHKA1):c.1740A>G (p.Ser580=) rs143064948 0.00047
NM_002637.4(PHKA1):c.536C>T (p.Ala179Val) rs199608903 0.00039
NM_002637.4(PHKA1):c.3511G>A (p.Ala1171Thr) rs144813238 0.00034
NM_002637.4(PHKA1):c.718-12C>A rs782227106 0.00013
NM_002637.4(PHKA1):c.2160G>A (p.Thr720=) rs368071005 0.00008
NM_002637.4(PHKA1):c.750A>G (p.Ser250=) rs201801654 0.00004
NM_002637.4(PHKA1):c.3669A>G (p.Gln1223=) rs782257959 0.00003
NM_002637.4(PHKA1):c.478G>A (p.Asp160Asn) rs201601894 0.00002
NM_002637.4(PHKA1):c.2370-14C>T rs782784720 0.00001
NM_002637.4(PHKA1):c.*1375A>G rs142925152
NM_002637.4(PHKA1):c.1042-20T>G
NM_002637.4(PHKA1):c.1401G>A (p.Glu467=) rs782491320
NM_002637.4(PHKA1):c.2365A>G (p.Met789Val)
NM_002637.4(PHKA1):c.2391A>G (p.Glu797=)
NM_002637.4(PHKA1):c.2856G>A (p.Ser952=) rs782602098
NM_002637.4(PHKA1):c.3244-12del
NM_002637.4(PHKA1):c.3244-12dup
NM_002637.4(PHKA1):c.381T>C (p.Asp127=)
NM_002637.4(PHKA1):c.459C>G (p.Leu153=)
NM_002637.4(PHKA1):c.79-5dup

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