List of variants in gene ARID1B studied for Blepharophimosis; Absent speech; Thick lower lip vermilion; Thin upper lip vermilion; Long eyelashes; Intellectual disability, moderate

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_001374828.1(ARID1B):c.2516_2518delinsTCCGCAGCCACTCC (p.Pro839fs)	rs879253856
NM_001374828.1(ARID1B):c.3151C>T (p.Gln1051Ter)	rs879253747
NM_001374828.1(ARID1B):c.3577_3578del (p.Lys1193fs)	rs879253745
NM_001374828.1(ARID1B):c.4642dup (p.Tyr1548fs)	rs879253746

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