ClinVar Miner

List of variants studied for Intellectual disability, autosomal dominant 56 by Mendelics

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_004859.4(CLTC):c.2023A>G (p.Ile675Val) rs2143556646
NM_004859.4(CLTC):c.3386T>G (p.Ile1129Ser) rs1443421262
NM_004859.4(CLTC):c.3765+1G>A rs2143594831

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