ClinVar Miner

List of variants studied for glycogen storage disease VI by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_002863.5(PYGL):c.2083G>A (p.Gly695Arg) rs368758632 0.00003
NM_002863.5(PYGL):c.1768+1G>A rs113993982 0.00002
NM_002863.5(PYGL):c.1220dup (p.Asn408fs)
NM_002863.5(PYGL):c.1240-2A>G
NM_002863.5(PYGL):c.1902_1914dup (p.Ser639fs)
NM_002863.5(PYGL):c.2071G>C (p.Gly691Arg) rs539898848

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