List of variants in gene ARL6 reported as likely pathogenic for Bardet-Biedl 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_001278293.3(ARL6):c.272T>C (p.Ile91Thr)	rs137854907	0.00001
NM_001278293.3(ARL6):c.362G>A (p.Arg121His)	rs765715798	0.00001
GRCh38/hg38 3q11.2(chr3:97790061-97794169)
NC_000003.11:g.(97483822_97485475)_(97487075_97499002)del
NC_000003.11:g.(97487075_97499002)_(97499065_97499458)dup

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