ClinVar Miner

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

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 34
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HGVS dbSNP
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.1195C>T (p.Arg399Ter) rs113993978
NM_002863.5(PYGL):c.1366G>A (p.Val456Met) rs113993979
NM_002863.5(PYGL):c.1471C>T (p.Arg491Cys) rs113993980
NM_002863.5(PYGL):c.1620+1G>A rs113993981
NM_002863.5(PYGL):c.1620+1G>C
NM_002863.5(PYGL):c.1620+1G>T
NM_002863.5(PYGL):c.1726C>T (p.Arg576Ter)
NM_002863.5(PYGL):c.1729C>T (p.Gln577Ter) rs149096315
NM_002863.5(PYGL):c.1768+1G>A rs113993982
NM_002863.5(PYGL):c.1895A>T (p.Asn632Ile) rs113993983
NM_002863.5(PYGL):c.1900G>C (p.Asp634His) rs35026927
NM_002863.5(PYGL):c.2017G>A (p.Glu673Lys) rs113993984
NM_002863.5(PYGL):c.2023T>A (p.Ser675Thr) rs113993985
NM_002863.5(PYGL):c.2024C>T (p.Ser675Leu) rs113993986
NM_002863.5(PYGL):c.2042A>C (p.Lys681Thr) rs113993987
NM_002863.5(PYGL):c.2461T>C (p.Tyr821His) rs113993988
NM_002863.5(PYGL):c.2467C>T (p.Gln823Ter) rs756205397
NM_002863.5(PYGL):c.25_44dup (p.Ser15fs) rs786204785
NM_002863.5(PYGL):c.280C>T (p.Arg94Ter) rs113993973
NM_002863.5(PYGL):c.298_307del (p.Met100fs) rs1555328280
NM_002863.5(PYGL):c.33dup (p.Arg12fs)
NM_002863.5(PYGL):c.38A>C (p.Gln13Pro) rs113993972
NM_002863.5(PYGL):c.508_510delinsTAA (p.Lys170Ter) rs1596047883
NM_002863.5(PYGL):c.528+2T>C
NM_002863.5(PYGL):c.529-1G>C rs113993974
NM_002863.5(PYGL):c.697G>A (p.Gly233Ser) rs749922511
NM_002863.5(PYGL):c.698G>A (p.Gly233Asp) rs113993975
NM_002863.5(PYGL):c.72C>A (p.Asn24Lys)
NM_002863.5(PYGL):c.911_914dup (p.Leu305fs)

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