ClinVar Miner

List of variants reported as uncertain significance for Glycogen storage disease IXa1 by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000292.3(PHKA2):c.2848G>A (p.Asp950Asn)	rs747153540	0.00006
NM_000292.3(PHKA2):c.749C>T (p.Ser250Leu)	rs2048489995

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