ClinVar Miner

List of variants reported as not provided for glycogen storage disease VI by GeneReviews

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_002863.5(PYGL):c.1900G>C (p.Asp634His) rs35026927 0.00435
NM_002863.5(PYGL):c.1620+1G>A rs113993981 0.00006
NM_002863.5(PYGL):c.280C>T (p.Arg94Ter) rs113993973 0.00005
NM_002863.5(PYGL):c.2017G>A (p.Glu673Lys) rs113993984 0.00003
NM_002863.5(PYGL):c.2461T>C (p.Tyr821His) rs113993988 0.00003
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.1195C>T (p.Arg399Ter) rs113993978 0.00001
NM_002863.5(PYGL):c.2024C>T (p.Ser675Leu) rs113993986 0.00001
NM_002863.5(PYGL):c.698G>A (p.Gly233Asp) rs113993975 0.00001
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.1895A>T (p.Asn632Ile) rs113993983
NM_002863.5(PYGL):c.2023T>A (p.Ser675Thr) rs113993985
NM_002863.5(PYGL):c.2042A>C (p.Lys681Thr) rs113993987
NM_002863.5(PYGL):c.38A>C (p.Gln13Pro) rs113993972
NM_002863.5(PYGL):c.529-1G>C rs113993974

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