ClinVar Miner

List of variants studied for Glycogen storage disease, type VII by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_000289.6(PFKM):c.2334T>G (p.Ala778=) rs8716 0.28514
NM_001166686.2(PFKM):c.5A>T (p.His2Leu) rs11609399 0.21767
NM_000289.6(PFKM):c.516C>T (p.Thr172=) rs1049392 0.18973
NM_000289.6(PFKM):c.2093-14A>G rs11168427 0.16418
NM_000289.6(PFKM):c.299G>A (p.Arg100Gln) rs2228500 0.16379
NM_000289.6(PFKM):c.246G>A (p.Thr82=) rs2228501 0.06196
NM_000289.6(PFKM):c.1500+32C>T rs41291967 0.02028
NM_000289.6(PFKM):c.1342-14G>T rs56117548 0.01990
NM_000289.6(PFKM):c.306C>T (p.Ala102=) rs11552507 0.01954
NM_000289.6(PFKM):c.2087G>A (p.Arg696His) rs41291971 0.01088
NM_000289.6(PFKM):c.1338G>A (p.Gly446=) rs150378513 0.00243
NM_000289.6(PFKM):c.1339C>A (p.Gln447Lys) rs145040928 0.00243
NM_000289.6(PFKM):c.2199-12A>G rs202008060 0.00204
NM_000289.6(PFKM):c.702A>T (p.Pro234=) rs138022863 0.00185
NM_000289.6(PFKM):c.1500+29C>T rs138256599 0.00183
NM_000289.6(PFKM):c.459C>T (p.Ser153=) rs145519821 0.00021
NM_000289.6(PFKM):c.52A>G (p.Ile18Val) rs150405056 0.00020
NM_000289.6(PFKM):c.139C>T (p.Arg47Cys) rs774921979 0.00012
NM_000289.6(PFKM):c.1925A>G (p.Asn642Ser) rs141550921 0.00011
NM_000289.6(PFKM):c.1501-15C>T rs756212415 0.00008
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.1212T>C (p.Ala404=) rs1203272613 0.00005
NM_000289.6(PFKM):c.1063-18G>A rs531023136 0.00004
NC_000012.12:g.48107374A>G rs755094329 0.00001
NM_000289.6(PFKM):c.2126G>A (p.Cys709Tyr) rs373055147 0.00001
NM_000289.6(PFKM):c.888G>A (p.Leu296=) rs753083173 0.00001
NC_000012.12:g.48107385C>T
NM_000289.6(PFKM):c.1043T>C (p.Leu348Pro) rs1203659685
NM_000289.6(PFKM):c.1063-6C>A rs371033104
NM_000289.6(PFKM):c.1295G>A (p.Arg432Gln) rs374824469
NM_000289.6(PFKM):c.1338_1339delinsAA (p.Gln447Lys) rs1555206566
NM_000289.6(PFKM):c.1413-58C>A rs78496902
NM_000289.6(PFKM):c.150T>C (p.Phe50=)
NM_000289.6(PFKM):c.1771G>A (p.Asp591Asn)
NM_000289.6(PFKM):c.2003del (p.Pro668fs) rs767095759
NM_000289.6(PFKM):c.2219A>G (p.Gln740Arg) rs1950977797
NM_000289.6(PFKM):c.550C>T (p.Arg184Trp)

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