ClinVar Miner

List of variants in gene PYGL reported as benign for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 22
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HGVS dbSNP
NM_002863.4(PYGL):c.-127A>G rs67490748
NM_002863.5(PYGL):c.*11del rs3216001
NM_002863.5(PYGL):c.*7G>C rs1042266
NM_002863.5(PYGL):c.-29A>C rs538311514
NM_002863.5(PYGL):c.1020C>T (p.Asp340=) rs2075643
NM_002863.5(PYGL):c.1093-6C>A rs147211684
NM_002863.5(PYGL):c.153C>T (p.Asp51=) rs77316189
NM_002863.5(PYGL):c.1621-6T>C rs74539788
NM_002863.5(PYGL):c.1683C>T (p.Ser561=) rs145471351
NM_002863.5(PYGL):c.176C>T (p.Thr59Met) rs150483902
NM_002863.5(PYGL):c.1828-2del rs11356035
NM_002863.5(PYGL):c.2016C>T (p.Thr672=) rs15669
NM_002863.5(PYGL):c.2112T>C (p.Ala704=) rs35110875
NM_002863.5(PYGL):c.2416A>T (p.Ile806Leu) rs34313873
NM_002863.5(PYGL):c.2534A>G (p.Asn845Ser) rs78558135
NM_002863.5(PYGL):c.424+6T>A rs146741789
NM_002863.5(PYGL):c.664G>A (p.Val222Ile) rs946616
NM_002863.5(PYGL):c.691G>A (p.Val231Met) rs148378112
NM_002863.5(PYGL):c.772+16G>T rs17123173
NM_002863.5(PYGL):c.928C>T (p.Arg310Cys) rs35501326
NM_002863.5(PYGL):c.93T>C (p.Ser31=) rs17123244
NM_002863.5(PYGL):c.962G>A (p.Arg321His) rs116465563

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