ClinVar Miner

List of variants studied for UGDH-related disorder by PreventionGenetics, part of Exact Sciences

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_003359.4(UGDH):c.421C>T (p.Arg141Cys) rs115137663 0.00512
NM_003359.4(UGDH):c.193C>T (p.Arg65Ter) rs200059198 0.00011
NM_003359.4(UGDH):c.41A>G (p.Tyr14Cys) rs369608407 0.00001
NM_003359.4(UGDH):c.1202C>T (p.Pro401Leu)
NM_003359.4(UGDH):c.21C>T (p.Ile7=)

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