ClinVar Miner

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

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_000289.6(PFKM):c.820A>G (p.Ile274Val) rs142868881 0.00021
NM_000289.6(PFKM):c.237+1G>A rs202143236 0.00006
NM_000289.6(PFKM):c.857G>A (p.Arg286His) rs768496070 0.00006
NM_000289.6(PFKM):c.298C>T (p.Arg100Ter) rs374547385 0.00004
NM_000289.6(PFKM):c.1127G>A (p.Arg376Gln) rs187131358 0.00001
NM_000289.6(PFKM):c.1191+1G>A rs746348793 0.00001
NM_000289.6(PFKM):c.1413-2A>G rs1430517061 0.00001
NM_000289.6(PFKM):c.292C>T (p.Arg98Ter) rs138893744 0.00001
NM_000289.6(PFKM):c.1062+1G>A
NM_000289.6(PFKM):c.1191+1del
NM_000289.6(PFKM):c.1412+1G>T
NM_000289.6(PFKM):c.1458dup (p.Lys487Ter)
NM_000289.6(PFKM):c.1501-2del rs1410122696
NM_000289.6(PFKM):c.1509_1510del (p.Gly505fs)
NM_000289.6(PFKM):c.159+1G>T rs1305706304
NM_000289.6(PFKM):c.160-1G>C
NM_000289.6(PFKM):c.1607C>G (p.Ser536Ter)
NM_000289.6(PFKM):c.1807C>T (p.Arg603Ter)
NM_000289.6(PFKM):c.1876_1880+2del
NM_000289.6(PFKM):c.1905dup (p.Thr636fs)
NM_000289.6(PFKM):c.2003del (p.Pro668fs) rs767095759
NM_000289.6(PFKM):c.283C>T (p.Arg95Ter) rs121918195
NM_000289.6(PFKM):c.353del (p.Gly118fs)
NM_000289.6(PFKM):c.594-2_594del
NM_000289.6(PFKM):c.779_783delinsC (p.Ile260fs)
NM_000289.6(PFKM):c.936+2T>G
NM_001166686.2(PFKM):c.62_65del (p.Val21fs)

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