ClinVar Miner

List of variants studied for Intellectual disability, autosomal recessive 46 by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001543.5(NDST1):c.1831G>A (p.Gly611Ser) rs606231459 0.00001
NM_001543.5(NDST1):c.1918T>C (p.Phe640Leu) rs606231458

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