ClinVar Miner

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

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 27
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HGVS dbSNP
NM_002863.5(PYGL):c.1119C>T (p.Phe373=) rs151022264
NM_002863.5(PYGL):c.1145C>T (p.Pro382Leu) rs143759519
NM_002863.5(PYGL):c.132C>T (p.Arg44=) rs144280508
NM_002863.5(PYGL):c.1404-8A>G rs374360647
NM_002863.5(PYGL):c.1410G>C (p.Lys470Asn) rs78433217
NM_002863.5(PYGL):c.147C>T (p.Thr49=) rs139338050
NM_002863.5(PYGL):c.1620+10C>G rs367866027
NM_002863.5(PYGL):c.1620+12A>T
NM_002863.5(PYGL):c.1629G>A (p.Lys543=)
NM_002863.5(PYGL):c.1656G>A (p.Thr552=) rs376165151
NM_002863.5(PYGL):c.1683C>T (p.Ser561=) rs145471351
NM_002863.5(PYGL):c.1728A>G (p.Arg576=) rs143287753
NM_002863.5(PYGL):c.1824T>C (p.Gly608=) rs141456201
NM_002863.5(PYGL):c.1920G>A (p.Lys640=) rs140296036
NM_002863.5(PYGL):c.1981A>G (p.Thr661Ala)
NM_002863.5(PYGL):c.1995G>A (p.Glu665=)
NM_002863.5(PYGL):c.2178-10T>A rs879201864
NM_002863.5(PYGL):c.2358T>C (p.Asp786=)
NM_002863.5(PYGL):c.2380-9T>C rs368714229
NM_002863.5(PYGL):c.2534A>G (p.Asn845Ser) rs78558135
NM_002863.5(PYGL):c.364G>A (p.Glu122Lys) rs144099482
NM_002863.5(PYGL):c.424+6T>A rs146741789
NM_002863.5(PYGL):c.603G>T (p.Val201=) rs138364932
NM_002863.5(PYGL):c.611A>G (p.Tyr204Cys) rs34096980
NM_002863.5(PYGL):c.663G>A (p.Val221=)
NM_002863.5(PYGL):c.696C>T (p.Pro232=)
NM_002863.5(PYGL):c.78A>G (p.Ala26=)

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