ClinVar Miner

List of variants in gene PYGL reported as pathogenic for Glycogen storage disease, type VI

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Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_002863.5(PYGL):c.1729C>T (p.Gln577Ter) rs149096315 0.00010
NM_002863.5(PYGL):c.1620+1G>A rs113993981 0.00006
NM_002863.5(PYGL):c.2467C>T (p.Gln823Ter) rs756205397 0.00006
NM_002863.5(PYGL):c.1947C>A (p.Tyr649Ter) rs150547274 0.00005
NM_002863.5(PYGL):c.280C>T (p.Arg94Ter) rs113993973 0.00005
NM_002863.5(PYGL):c.2426C>T (p.Ser809Leu) rs760187622 0.00004
NM_002863.5(PYGL):c.1366G>A (p.Val456Met) rs113993979 0.00003
NM_002863.5(PYGL):c.1471C>T (p.Arg491Cys) rs113993980 0.00002
NM_002863.5(PYGL):c.1768+1G>A rs113993982 0.00002
NM_002863.5(PYGL):c.911_914dup (p.Leu305fs) rs758943884 0.00002
NM_002863.5(PYGL):c.1475G>A (p.Trp492Ter) rs1042609342 0.00001
NM_002863.5(PYGL):c.1726C>T (p.Arg576Ter) rs774646420 0.00001
NM_002863.5(PYGL):c.528+1G>A rs1170047320 0.00001
NM_002863.5(PYGL):c.697G>A (p.Gly233Ser) rs749922511 0.00001
NM_002863.5(PYGL):c.698G>A (p.Gly233Asp) rs113993975 0.00001
NC_000014.8:g.(?_51372090)_(51411141_?)del
NC_000014.9:g.(?_50909875)_(50912323_?)del
NM_002863.3(PYGL):c.[1964_1969invAAAAAG;1969+1_+4delGTAC]
NM_002863.5(PYGL):c.1016A>G (p.Asn339Ser) rs113993976
NM_002863.5(PYGL):c.1131C>G (p.Asn377Lys) rs113993977
NM_002863.5(PYGL):c.1228A>T (p.Lys410Ter) rs2503498157
NM_002863.5(PYGL):c.1404-1G>A rs750567664
NM_002863.5(PYGL):c.1620+1G>C rs113993981
NM_002863.5(PYGL):c.1620+1G>T rs113993981
NM_002863.5(PYGL):c.1778_1781del (p.Lys593fs)
NM_002863.5(PYGL):c.179_197del (p.Val60fs) rs1469198620
NM_002863.5(PYGL):c.1964_1969+4delinsGAAAAA rs2503489724
NM_002863.5(PYGL):c.198del (p.Arg67fs) rs2502448999
NM_002863.5(PYGL):c.2071G>C (p.Gly691Arg) rs539898848
NM_002863.5(PYGL):c.25_44dup (p.Ser15fs) rs786204785
NM_002863.5(PYGL):c.298_307del (p.Met100fs) rs1555328280
NM_002863.5(PYGL):c.324del (p.Cys109fs)
NM_002863.5(PYGL):c.33dup (p.Arg12fs) rs2050731690
NM_002863.5(PYGL):c.508_510delinsTAA (p.Lys170Ter) rs1596047883
NM_002863.5(PYGL):c.514C>T (p.Arg172Ter) rs2050602182
NM_002863.5(PYGL):c.528+2T>C rs1243388778
NM_002863.5(PYGL):c.529-1G>C rs113993974
NM_002863.5(PYGL):c.647G>A (p.Trp216Ter) rs2503512754
NM_002863.5(PYGL):c.72C>A (p.Asn24Lys) rs1375868904
NM_002863.5(PYGL):c.730C>T (p.Leu244Phe)
NM_002863.5(PYGL):c.772+2_772+3del rs765425704
NM_002863.5(PYGL):c.808C>T (p.Arg270Ter)

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