ClinVar Miner

List of variants studied for Glycogen storage disease, type V by Genome-Nilou Lab

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 28
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005609.4(PYGM):c.528+74C>A rs489192 0.80888
NM_005609.4(PYGM):c.999+99T>C rs625172 0.76387
NM_005609.4(PYGM):c.1403+49C>A rs2959652 0.73328
NM_005609.4(PYGM):c.660+35G>A rs589691 0.68983
NM_005609.4(PYGM):c.529-82G>A rs490980 0.68643
NM_005609.4(PYGM):c.243+48A>G rs477549 0.20640
NM_005609.4(PYGM):c.2313-47T>C rs569602 0.10954
NM_005609.4(PYGM):c.1827+7A>G rs532747 0.10554
NM_005609.4(PYGM):c.1768+51C>T rs686171 0.08974
NM_005609.4(PYGM):c.645G>A (p.Lys215=) rs116315896 0.00530
NM_005609.4(PYGM):c.1537A>G (p.Ile513Val) rs139570786 0.00232
NM_005609.4(PYGM):c.660G>A (p.Gln220=) rs142234258 0.00186
NM_005609.4(PYGM):c.924C>T (p.Ile308=) rs139726186 0.00175
NM_005609.4(PYGM):c.848A>G (p.Asn283Ser) rs114468011 0.00081
NM_005609.4(PYGM):c.1094C>T (p.Ala365Val) rs116135678 0.00072
NM_005609.4(PYGM):c.1272C>A (p.Asp424Glu) rs372851103 0.00011
NM_005609.4(PYGM):c.1558C>T (p.Arg520Cys) rs200481790 0.00010
NM_005609.4(PYGM):c.2447G>A (p.Arg816His) rs139230055 0.00010
NM_005609.4(PYGM):c.1384G>A (p.Glu462Lys) rs769805782 0.00002
NM_005609.4(PYGM):c.2398C>T (p.Arg800Trp) rs759260599 0.00002
NM_005609.4(PYGM):c.1280G>A (p.Arg427Gln) rs756303162 0.00001
NM_005609.4(PYGM):c.2054A>G (p.Asn685Ser) rs765656412 0.00001
NM_005609.4(PYGM):c.2342A>G (p.Tyr781Cys) rs2135823341 0.00001
NM_005609.4(PYGM):c.541G>A (p.Asp181Asn) rs551666681 0.00001
NM_005609.4(PYGM):c.1448A>C (p.Lys483Thr) rs2135832293
NM_005609.4(PYGM):c.1463C>T (p.Thr488Ile) rs1555134900
NM_005609.4(PYGM):c.1702G>A (p.Val568Met) rs757791045
NM_005609.4(PYGM):c.307C>G (p.Leu103Val) rs2135840833

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.