List of variants reported as uncertain significance for intellectual disability-hypotonia-spasticity-sleep disorder syndrome by New York Genome Center

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_020987.5(ANK3):c.11678G>C (p.Ser3893Thr)	rs12260663	0.00044
NM_020987.5(ANK3):c.6555G>T (p.Gln2185His)	rs144465058	0.00036
NM_020987.5(ANK3):c.3488A>G (p.Gln1163Arg)	rs746416574	0.00009
NM_020987.5(ANK3):c.3970G>A (p.Val1324Ile)	rs755265993	0.00006
NM_020987.5(ANK3):c.5183C>T (p.Ser1728Phe)	rs759998919	0.00006
NM_020987.5(ANK3):c.12229A>C (p.Ser4077Arg)	rs778664446	0.00001
NM_020987.5(ANK3):c.1491+4T>C	rs765680287	0.00001
NM_020987.5(ANK3):c.1939G>A (p.Ala647Thr)	rs761904426	0.00001
NM_020987.5(ANK3):c.4705T>G (p.Ser1569Ala)	rs375050420	0.00001
NM_020987.5(ANK3):c.11591A>G (p.Lys3864Arg)
NM_020987.5(ANK3):c.2836G>C (p.Glu946Gln)	rs2094230190
NM_020987.5(ANK3):c.9598A>G (p.Ile3200Val)	rs2131970999

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