ClinVar Miner

List of variants reported as uncertain significance by Human Genetics Laboratory, State University of Rio de Janeiro

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_002294.3(LAMP2):c.661G>A (p.Gly221Arg) rs145169006 0.00193
NM_181332.3(NLGN4X):c.2284C>G (p.Leu762Val) rs764361221 0.00001
NM_001330311.2(DVL1):c.737C>T (p.Ser246Phe) rs113333411

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