ClinVar Miner

List of variants studied for Intellectual disability-hypotonia-spasticity-sleep disorder syndrome by Department of Human Genetics, Hannover Medical School

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_020987.5(ANK3):c.5981C>T (p.Ser1994Leu) rs141251507 0.00024
NM_020987.5(ANK3):c.13130C>T (p.Ser4377Leu) rs201169886 0.00005
NM_020987.5(ANK3):c.2706C>G (p.Tyr902Ter)
NM_020987.5(ANK3):c.3975A>C (p.Glu1325Asp)
NM_020987.5(ANK3):c.6457T>C (p.Phe2153Leu) rs2492561818

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