List of variants in gene PHKA1 reported as pathogenic for Glycogen storage disease IXd

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 19

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HGVS	dbSNP	gnomAD frequency
NM_002637.4(PHKA1):c.3334G>T (p.Glu1112Ter)	rs137852546	0.00003
NM_002637.4(PHKA1):c.1174C>T (p.Arg392Ter)	rs1556299510	0.00001
NM_002637.4(PHKA1):c.1759C>T (p.Arg587Ter)	rs1157788242	0.00001
GRCh37/hg19 Xq13.2(chrX:71801020-71804146)
NC_000023.11:g.(?_72644342)_(72676170_?)del
NM_002637.4(PHKA1):c.1531dup (p.Tyr511fs)
NM_002637.4(PHKA1):c.2460dup (p.Arg821fs)
NM_002637.4(PHKA1):c.2587C>T (p.Arg863Ter)
NM_002637.4(PHKA1):c.2603_2604del (p.Ser868fs)	rs2052776972
NM_002637.4(PHKA1):c.2683C>T (p.Gln895Ter)
NM_002637.4(PHKA1):c.2755C>T (p.Arg919Ter)
NM_002637.4(PHKA1):c.3498+1G>C
NM_002637.4(PHKA1):c.389G>A (p.Trp130Ter)
NM_002637.4(PHKA1):c.635T>G (p.Leu212Ter)	rs2147781328
NM_002637.4(PHKA1):c.667G>A (p.Gly223Arg)	rs137852548
NM_002637.4(PHKA1):c.695del (p.Ala232fs)	rs1603266754
NM_002637.4(PHKA1):c.812_813dup (p.Asp272fs)	rs2147779873
NM_002637.4(PHKA1):c.892C>T (p.Arg298Ter)	rs1256371424
NM_002637.4(PHKA1):c.896A>T (p.Asp299Val)	rs137852547

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