ClinVar Miner

List of variants in gene PHKA1 reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_002637.4(PHKA1):c.*1275A>G rs782306248 0.00069
NM_002637.4(PHKA1):c.2918-4A>G rs184136158 0.00056
NM_002637.4(PHKA1):c.868C>T (p.Arg290Cys) rs138752449 0.00036
NM_002637.4(PHKA1):c.2160G>A (p.Thr720=) rs368071005 0.00008
NM_002637.4(PHKA1):c.3541G>A (p.Ala1181Thr) rs140865522 0.00008
NM_002637.4(PHKA1):c.1151A>G (p.Tyr384Cys) rs782509826 0.00007
NM_002637.4(PHKA1):c.1794-7T>A rs376754554 0.00004
NM_002637.4(PHKA1):c.1540C>T (p.Arg514Trp) rs181530232 0.00002
NM_002637.4(PHKA1):c.2404C>T (p.Arg802Trp) rs782789642 0.00001
NM_002637.4(PHKA1):c.3250G>A (p.Gly1084Arg) rs1181595611 0.00001
NM_002637.4(PHKA1):c.1175G>A (p.Arg392Gln)
NM_002637.4(PHKA1):c.1181C>A (p.Pro394His) rs1603264063
NM_002637.4(PHKA1):c.14G>A (p.Ser5Asn)
NM_002637.4(PHKA1):c.2050G>T (p.Gly684Ter)
NM_002637.4(PHKA1):c.237+8A>G
NM_002637.4(PHKA1):c.2685+8_2685+10del rs782176924
NM_002637.4(PHKA1):c.2853T>C (p.Pro951=)
NM_002637.4(PHKA1):c.2917+4A>G rs2052679819
NM_002637.4(PHKA1):c.306C>A (p.Phe102Leu)
NM_002637.4(PHKA1):c.3101G>A (p.Ser1034Asn)
NM_002637.4(PHKA1):c.3407T>C (p.Met1136Thr) rs782034813
NM_002637.4(PHKA1):c.3501A>G (p.Lys1167=) rs782682520
NM_002637.4(PHKA1):c.3621C>T (p.Ala1207=)
NM_002637.4(PHKA1):c.663A>G (p.Lys221=)
NM_002637.4(PHKA1):c.686A>G (p.His229Arg)
NM_002637.4(PHKA1):c.871T>C (p.Tyr291His)

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