ClinVar Miner

List of variants in gene PHKA1 reported as likely benign by PreventionGenetics, part of Exact Sciences

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Gene type:
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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_002637.4(PHKA1):c.538-25T>C rs149014464 0.00963
NM_002637.4(PHKA1):c.2462G>A (p.Arg821His) rs139803629 0.00280
NM_002637.4(PHKA1):c.3435C>T (p.Ile1145=) rs148981522 0.00094
NM_002637.4(PHKA1):c.1141G>A (p.Asp381Asn) rs141251024 0.00059
NM_002637.4(PHKA1):c.2179C>T (p.Arg727Trp) rs151279562 0.00035
NM_002637.4(PHKA1):c.2112C>T (p.Thr704=) rs782437467 0.00014
NM_002637.4(PHKA1):c.1140C>T (p.Val380=) rs782278481
NM_002637.4(PHKA1):c.1324+15dup rs886038516
NM_002637.4(PHKA1):c.1500A>G (p.Arg500=)
NM_002637.4(PHKA1):c.1794-13_1794-11del rs886038517
NM_002637.4(PHKA1):c.2685+8_2685+10del rs782176924
NM_002637.4(PHKA1):c.2910A>G (p.Glu970=)
NM_002637.4(PHKA1):c.3120A>G (p.Ala1040=)
NM_002637.4(PHKA1):c.543C>T (p.Phe181=)

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