ClinVar Miner

List of variants reported as uncertain significance by Section for Clinical Neurogenetics, University of Tübingen

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_020533.3(MCOLN1):c.230C>T (p.Thr77Met) rs138101272 0.00002
NM_014874.4(MFN2):c.1963A>G (p.Lys655Glu) rs1639459062
NM_016955.4(SEPSECS):c.181A>G (p.Met61Val) rs910702708
NM_203446.3(SYNJ1):c.1157G>T (p.Cys386Phe) rs2041732521
NM_207346.3(TSEN54):c.341C>T (p.Pro114Leu) rs1180314456

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