ClinVar Miner

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

Included ClinVar conditions (161):
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Gene type:
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Total variants: 9
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GRCh37/hg19 Xq13.2(chrX:71801020-71804146)
NM_002637.4(PHKA1):c.2603_2604del (p.Ser868fs)
NM_002637.4(PHKA1):c.3334G>T (p.Glu1112Ter) rs137852546
NM_002637.4(PHKA1):c.667G>A (p.Gly223Arg) rs137852548
NM_002637.4(PHKA1):c.695del (p.Ala232fs) rs1603266754
NM_002637.4(PHKA1):c.892C>T (p.Arg298Ter) rs1256371424
NM_002637.4(PHKA1):c.896A>T (p.Asp299Val) rs137852547
PHKA1, IVSL, G-C, +1

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