ClinVar Miner

List of variants reported as pathogenic for Glycogen storage disease, type VI by Invitae

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Total variants: 21
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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.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.1366G>A (p.Val456Met) rs113993979 0.00002
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.1726C>T (p.Arg576Ter) rs774646420 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_002863.5(PYGL):c.1228A>T (p.Lys410Ter)
NM_002863.5(PYGL):c.1475G>A (p.Trp492Ter)
NM_002863.5(PYGL):c.1620+1G>T rs113993981
NM_002863.5(PYGL):c.179_197del (p.Val60fs)
NM_002863.5(PYGL):c.1964_1969+4delinsGAAAAA
NM_002863.5(PYGL):c.2071G>C (p.Gly691Arg) rs539898848
NM_002863.5(PYGL):c.514C>T (p.Arg172Ter)
NM_002863.5(PYGL):c.647G>A (p.Trp216Ter)
NM_002863.5(PYGL):c.772+2_772+3del rs765425704

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