ClinVar Miner

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

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
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HGVS dbSNP
NM_002637.4(PHKA1):c.1141G>A (p.Asp381Asn) rs141251024
NM_002637.4(PHKA1):c.1428T>A (p.Ala476=)
NM_002637.4(PHKA1):c.1964G>A (p.Arg655His)
NM_002637.4(PHKA1):c.1998C>T (p.His666=)
NM_002637.4(PHKA1):c.2112C>T (p.Thr704=) rs782437467
NM_002637.4(PHKA1):c.2179C>T (p.Arg727Trp) rs151279562
NM_002637.4(PHKA1):c.2190C>T (p.Phe730=) rs1228510553
NM_002637.4(PHKA1):c.229T>C (p.Leu77=)
NM_002637.4(PHKA1):c.2912G>A (p.Arg971Gln)
NM_002637.4(PHKA1):c.2916C>T (p.Ser972=)
NM_002637.4(PHKA1):c.3042T>C (p.Phe1014=)
NM_002637.4(PHKA1):c.3149G>A (p.Arg1050His)
NM_002637.4(PHKA1):c.3364G>C (p.Glu1122Gln) rs202007590
NM_002637.4(PHKA1):c.3501A>G (p.Lys1167=) rs782682520
NM_002637.4(PHKA1):c.430T>G (p.Phe144Val) rs782285281
NM_002637.4(PHKA1):c.478G>A (p.Asp160Asn) rs201601894
NM_002637.4(PHKA1):c.868C>T (p.Arg290Cys) rs138752449

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