List of variants studied for Glycogen storage disease IXd by Baylor Genetics

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_002637.4(PHKA1):c.536C>T (p.Ala179Val)	rs199608903	0.00039
NM_002637.4(PHKA1):c.1384G>A (p.Val462Met)	rs782400389	0.00001
GRCh37/hg19 Xq13.2(chrX:71801020-71804146)
NM_002637.4(PHKA1):c.152T>C (p.Ile51Thr)	rs2054403951
NM_002637.4(PHKA1):c.1664G>A (p.Arg555Gln)
NM_002637.4(PHKA1):c.2603_2604del (p.Ser868fs)	rs2052776972

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