List of variants in gene ANK3 reported as pathogenic for intellectual disability-hypotonia-spasticity-sleep disorder syndrome

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_020987.5(ANK3):c.10995del (p.Thr3666fs)	rs879255535
NM_020987.5(ANK3):c.11033del (p.Pro3678fs)	rs2082373823
NM_020987.5(ANK3):c.2659C>T (p.Gln887Ter)	rs1590691724
NM_020987.5(ANK3):c.8592G>T (p.Lys2864Asn)	rs186051700

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