ClinVar Miner

List of variants studied for Glycogen storage disease, type V by Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_005609.4(PYGM):c.2203C>T (p.Arg735Cys) rs559363120 0.00013
NM_005609.4(PYGM):c.1708C>T (p.Arg570Trp) rs377225525 0.00001

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