ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002863.5(PYGL):c.1093-6C>A rs147211684 0.00613
NM_002863.5(PYGL):c.2112T>C (p.Ala704=) rs35110875 0.00531
NM_002863.5(PYGL):c.1145C>T (p.Pro382Leu) rs143759519 0.00440
NM_002863.5(PYGL):c.*78G>A rs190588867 0.00133
NM_002863.5(PYGL):c.1582G>A (p.Asp528Asn) rs138461745 0.00027
NM_002863.5(PYGL):c.1828-9T>A rs372338710 0.00027
NM_002863.5(PYGL):c.2540A>T (p.Asn847Ile) rs147863207 0.00011
NM_002863.5(PYGL):c.280C>T (p.Arg94Ter) rs113993973 0.00005
NM_002863.5(PYGL):c.2017G>A (p.Glu673Lys) rs113993984 0.00003
NM_002863.5(PYGL):c.1454A>G (p.Asn485Ser) rs138888959 0.00001
NM_002863.5(PYGL):c.1142del (p.Leu381fs)
NM_002863.5(PYGL):c.1334T>C (p.Leu445Pro) rs2050437440
NM_002863.5(PYGL):c.2071G>C (p.Gly691Arg) rs539898848
NM_002863.5(PYGL):c.2181C>G (p.Tyr727Ter)
NM_002863.5(PYGL):c.2254dup (p.Ser752fs)
NM_002863.5(PYGL):c.424+1G>C

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.