ClinVar Miner

List of variants reported as likely pathogenic for Glycogen storage disease, type V by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_005609.4(PYGM):c.1363G>A (p.Gly455Ser) rs201042910 0.00008
NM_005609.4(PYGM):c.2178-1G>A rs143670942 0.00005
NM_005609.4(PYGM):c.2143C>T (p.Arg715Trp) rs780656375 0.00003
NM_005609.4(PYGM):c.345+2T>A rs1219299972 0.00002
NM_005609.4(PYGM):c.875T>C (p.Leu292Pro) rs780375860 0.00002
NM_005609.4(PYGM):c.1092+1G>A rs749560316 0.00001
NM_005609.4(PYGM):c.1193C>T (p.Pro398Leu) rs773204705 0.00001
NM_005609.4(PYGM):c.1723A>G (p.Lys575Glu) rs1315020035 0.00001
NM_005609.4(PYGM):c.1963G>A (p.Glu655Lys) rs119103253 0.00001
NM_005609.4(PYGM):c.580C>T (p.Arg194Trp) rs376581557 0.00001
NC_000011.10:g.(?_64746639)_(64747378_?)del
NC_000011.10:g.(?_64758236)_(64758714_?)del
NC_000011.9:g.(?_64517828)_(64523631_?)dup
NM_005609.4(PYGM):c.1092+1G>C rs749560316
NM_005609.4(PYGM):c.1129A>T (p.Asn377Tyr) rs954192338
NM_005609.4(PYGM):c.1151C>T (p.Ala384Val) rs1465752595
NM_005609.4(PYGM):c.1240-2A>G rs1212333772
NM_005609.4(PYGM):c.1363G>C (p.Gly455Arg)
NM_005609.4(PYGM):c.1403+1dup
NM_005609.4(PYGM):c.1469G>C (p.Arg490Pro)
NM_005609.4(PYGM):c.1519-1G>A rs2135831491
NM_005609.4(PYGM):c.1620+1G>T
NM_005609.4(PYGM):c.1769-1G>A rs2058357329
NM_005609.4(PYGM):c.1827+1G>C rs1057517442
NM_005609.4(PYGM):c.1828-2A>G rs2135829883
NM_005609.4(PYGM):c.1969+1G>A
NM_005609.4(PYGM):c.1970-2A>C
NM_005609.4(PYGM):c.1996C>G (p.Gln666Glu) rs119103256
NM_005609.4(PYGM):c.2057G>A (p.Gly686Glu)
NM_005609.4(PYGM):c.2083G>T (p.Gly695Trp)
NM_005609.4(PYGM):c.2177+1G>A rs751875471
NM_005609.4(PYGM):c.2177+1G>T
NM_005609.4(PYGM):c.2380-1G>A rs1555133248
NM_005609.4(PYGM):c.2380-2A>G
NM_005609.4(PYGM):c.244-1G>A rs2135840980
NM_005609.4(PYGM):c.2T>C (p.Met1Thr) rs2058423391
NM_005609.4(PYGM):c.415C>G (p.Arg139Gly)
NM_005609.4(PYGM):c.424+1G>A
NM_005609.4(PYGM):c.424+1G>T
NM_005609.4(PYGM):c.425-2A>G rs752851284
NM_005609.4(PYGM):c.470G>T (p.Gly157Val)
NM_005609.4(PYGM):c.528+1G>A rs1262967083
NM_005609.4(PYGM):c.528+1G>T
NM_005609.4(PYGM):c.528+2T>G rs1057516468
NM_005609.4(PYGM):c.614G>A (p.Gly205Asp)
NM_005609.4(PYGM):c.660+1G>A rs1555136208
NM_005609.4(PYGM):c.773-1G>C rs2135836264
NM_005609.4(PYGM):c.855+1G>A rs2135836123
NM_005609.4(PYGM):c.856-2A>C rs1565536363

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