ClinVar Miner

List of variants studied for glycogen storage disease VI by Mendelics

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_002863.5(PYGL):c.1145C>T (p.Pro382Leu) rs143759519 0.00440
NM_002863.5(PYGL):c.1900G>C (p.Asp634His) rs35026927 0.00435
NM_002863.5(PYGL):c.697G>A (p.Gly233Ser) rs749922511 0.00001
NM_002863.5(PYGL):c.1404-1G>A rs750567664
NM_002863.5(PYGL):c.176C>A (p.Thr59Lys) rs150483902

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