List of variants in gene PHKA1 reported by Mayo Clinic Laboratories, Mayo Clinic

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_002637.4(PHKA1):c.429C>T (p.Leu143=)	rs138066694	0.02710
NM_002637.4(PHKA1):c.538-25T>C	rs149014464	0.00963
NM_002637.4(PHKA1):c.890T>C (p.Leu297Pro)	rs138195744	0.00025
NM_002637.4(PHKA1):c.3350G>A (p.Arg1117His)	rs143802511	0.00013
NM_002637.4(PHKA1):c.3149G>A (p.Arg1050His)	rs782453258	0.00006
NM_002637.4(PHKA1):c.1946A>C (p.Asp649Ala)	rs1404202467	0.00003
NM_002637.4(PHKA1):c.3043C>T (p.Arg1015Cys)	rs782191011	0.00002
NM_002637.4(PHKA1):c.-8G>A	rs782136060
NM_002637.4(PHKA1):c.1345_1346del (p.Glu449fs)	rs2147747770
NM_002637.4(PHKA1):c.2023C>G (p.Pro675Ala)	rs377254543
NM_002637.4(PHKA1):c.2171A>G (p.Gln724Arg)	rs139339661
NM_002637.4(PHKA1):c.295G>A (p.Val99Ile)
NM_002637.4(PHKA1):c.3328C>G (p.His1110Asp)
NM_002637.4(PHKA1):c.5G>A (p.Arg2Lys)	rs1556335953
NM_002637.4(PHKA1):c.674A>G (p.Gln225Arg)	rs1556306907
NM_002637.4(PHKA1):c.869G>A (p.Arg290His)	rs781906325

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