ClinVar Miner

List of variants studied for Glycogen storage disease, type VII by Invitae

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Total variants: 12
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HGVS dbSNP
NM_000289.6(PFKM):c.1005A>G (p.Val335=) rs1454843075
NM_000289.6(PFKM):c.1109C>G (p.Ala370Gly) rs531875148
NM_000289.6(PFKM):c.1191+1G>A rs746348793
NM_000289.6(PFKM):c.1303G>A (p.Val435Ile) rs774425888
NM_000289.6(PFKM):c.1727A>T (p.Tyr576Phe)
NM_000289.6(PFKM):c.1929_1933del (p.Leu643_Tyr644insTer)
NM_000289.6(PFKM):c.2003del (p.Pro668fs) rs767095759
NM_000289.6(PFKM):c.2282C>G (p.Thr761Ser)
NM_000289.6(PFKM):c.237+1G>A rs202143236
NM_000289.6(PFKM):c.283C>T (p.Arg95Ter) rs121918195
NM_000289.6(PFKM):c.306C>T (p.Ala102=) rs11552507
NM_000289.6(PFKM):c.335A>G (p.Asn112Ser)

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