ClinVar Miner

List of variants in gene PHKA1 reported as benign for carbohydrate metabolism disease

Included ClinVar conditions (161):
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Gene type:
ClinVar version:
Total variants: 24
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HGVS dbSNP
NM_002637.4(PHKA1):c.*1241_*1242GT[13] rs111688568
NM_002637.4(PHKA1):c.*1375A>G
NM_002637.4(PHKA1):c.*231A>T rs374264624
NM_002637.4(PHKA1):c.*500C>A
NM_002637.4(PHKA1):c.*625_*626CT[2] rs3070316
NM_002637.4(PHKA1):c.*804C>T
NM_002637.4(PHKA1):c.-229G>A rs782474797
NM_002637.4(PHKA1):c.-261C>A
NM_002637.4(PHKA1):c.1141G>A (p.Asp381Asn) rs141251024
NM_002637.4(PHKA1):c.2160G>A (p.Thr720=)
NM_002637.4(PHKA1):c.2370-14C>T
NM_002637.4(PHKA1):c.2433C>T (p.Thr811=) rs61732499
NM_002637.4(PHKA1):c.2462G>A (p.Arg821His) rs139803629
NM_002637.4(PHKA1):c.2856G>A (p.Ser952=)
NM_002637.4(PHKA1):c.3435C>T (p.Ile1145=) rs148981522
NM_002637.4(PHKA1):c.3511G>A (p.Ala1171Thr) rs144813238
NM_002637.4(PHKA1):c.3523A>G (p.Met1175Val) rs201573707
NM_002637.4(PHKA1):c.3669A>G (p.Gln1223=) rs782257959
NM_002637.4(PHKA1):c.429C>T (p.Leu143=) rs138066694
NM_002637.4(PHKA1):c.478G>A (p.Asp160Asn) rs201601894
NM_002637.4(PHKA1):c.492C>T (p.Phe164=) rs149354112
NM_002637.4(PHKA1):c.536C>T (p.Ala179Val)
NM_002637.4(PHKA1):c.718-12C>A rs782227106
NM_002637.4(PHKA1):c.864+11A>G rs181490917

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