ClinVar Miner

List of variants studied for Intellectual disability-hypotonia-spasticity-sleep disorder syndrome by Daryl Scott Lab, Baylor College of Medicine

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_020987.5(ANK3):c.4400A>G (p.Lys1467Arg) rs139982397 0.00056
NM_020987.5(ANK3):c.6571C>G (p.Pro2191Ala) rs140516425 0.00004
NM_020987.5(ANK3):c.2413C>T (p.Arg805Cys)
NM_020987.5(ANK3):c.5773GAG[1] (p.Glu1926del) rs764632652

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