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

Minimum submission review status:		Collection method:
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: 5

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HGVS	dbSNP	gnomAD frequency
NM_020987.5(ANK3):c.1863_1864del (p.Ala622fs)
NM_020987.5(ANK3):c.2125C>T (p.Arg709Ter)	rs1234025820
NM_020987.5(ANK3):c.2902G>C (p.Asp968His)	rs730882195
NM_020987.5(ANK3):c.4867C>T (p.Arg1623Ter)
NM_020987.5(ANK3):c.631C>T (p.Arg211Ter)

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