ClinVar Miner

List of variants studied for Intellectual disability-epilepsy-extrapyramidal syndrome by New York Genome Center

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_021008.4(DEAF1):c.1186G>A (p.Gly396Ser) rs138447102 0.00090
NM_021008.4(DEAF1):c.1051C>T (p.Arg351Ter) rs753168686 0.00001
NM_021008.4(DEAF1):c.72_89del (p.19VAAAAA[1]) rs781243390

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