ClinVar Miner

List of variants in gene PYGM reported as likely pathogenic by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 48
Download table as spreadsheet
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
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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.