ClinVar Miner

List of variants studied for Morquio syndrome by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000512.5(GALNS):c.850T>G (p.Phe284Val) rs144067930 0.00017
NM_000512.5(GALNS):c.1156C>T (p.Arg386Cys) rs118204437 0.00006
NM_000512.5(GALNS):c.740G>A (p.Gly247Asp) rs761385192 0.00004
NM_000512.5(GALNS):c.860C>T (p.Ser287Leu) rs770053354 0.00002
NM_000512.5(GALNS):c.697G>A (p.Asp233Asn) rs753051547 0.00001
NM_000512.5(GALNS):c.1474G>A (p.Ala492Thr) rs760300454

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