ClinVar Miner

List of variants reported as uncertain significance for Glycogen storage disease IXd by Baylor Genetics

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Total variants: 4
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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
NM_002637.4(PHKA1):c.152T>C (p.Ile51Thr) rs2054403951
NM_002637.4(PHKA1):c.1664G>A (p.Arg555Gln)

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