ClinVar Miner

List of variants in gene PHKA1 reported as benign by GeneDx

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Gene type:
ClinVar version:
Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_002637.4(PHKA1):c.2369+122T>C rs5958769 0.46586
NM_002637.4(PHKA1):c.919-79A>G rs2272781 0.23509
NM_002637.4(PHKA1):c.1715-175A>G rs12012333 0.23428
NM_002637.4(PHKA1):c.2230-182T>C rs12689088 0.12727
NM_002637.4(PHKA1):c.2816-124T>C rs5912109 0.08452
NM_002637.4(PHKA1):c.1570-73A>G rs4825955 0.08048
NM_002637.4(PHKA1):c.1715-127A>G rs35359441 0.08003
NM_002637.4(PHKA1):c.1246-220C>A rs3788796 0.06528
NM_002637.4(PHKA1):c.619-264A>G rs72630059 0.06155
NM_002637.4(PHKA1):c.2606+101T>G rs1883070 0.06130
NM_002637.4(PHKA1):c.2137+221A>G rs7056520 0.05958
NM_002637.4(PHKA1):c.1570-212A>G rs150631317 0.04798
NM_002637.4(PHKA1):c.429C>T (p.Leu143=) rs138066694 0.02710
NM_002637.4(PHKA1):c.3244-288T>G rs16988468 0.02270
NM_002637.4(PHKA1):c.538-25T>C rs149014464 0.00963
NM_002637.4(PHKA1):c.492C>T (p.Phe164=) rs149354112 0.00383
NM_002637.4(PHKA1):c.2462G>A (p.Arg821His) rs139803629 0.00280
NM_002637.4(PHKA1):c.2433C>T (p.Thr811=) rs61732499 0.00216
NM_002637.4(PHKA1):c.238-4G>A rs782186877 0.00089
NM_002637.4(PHKA1):c.3523A>G (p.Met1175Val) rs201573707 0.00063
NM_002637.4(PHKA1):c.1715-200_1715-199insTCTG rs58258630
NM_002637.4(PHKA1):c.1793+197GA[6] rs781862402
NM_002637.4(PHKA1):c.3073-80_3073-79dup rs11373841
NM_002637.4(PHKA1):c.3073-80dup rs11373841
NM_002637.4(PHKA1):c.538-126AT[9] rs376378016
NM_002637.4(PHKA1):c.78+103TG[13] rs58583639
NM_002637.4(PHKA1):c.78+103TG[14] rs58583639
NM_002637.4(PHKA1):c.78+103TG[16] rs58583639
NM_002637.4(PHKA1):c.78+103TG[17] rs58583639
NM_002637.4(PHKA1):c.78+103TG[19] rs58583639
NM_002637.4(PHKA1):c.78+132= rs58583639

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