List of variants in gene ARL6 studied 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
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_001278293.3(ARL6):c.*225G>C	rs4857294	0.92035
NM_001278293.3(ARL6):c.-240C>T	rs116162146	0.01233
NM_001278293.3(ARL6):c.*284C>A	rs148380165	0.01054
NM_001278293.3(ARL6):c.272T>C (p.Ile91Thr)	rs137854907	0.00001
NM_001278293.3(ARL6):c.291T>A (p.Ser97Arg)	rs2037381055	0.00001
NM_001278293.3(ARL6):c.362G>A (p.Arg121His)	rs765715798	0.00001
NM_001278293.3(ARL6):c.364C>T (p.Arg122Ter)	rs104893678	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
NC_000003.11:g.(97487075_97499002)_(97520087_?)del
NM_001278293.3(ARL6):c.302G>T (p.Arg101Ile)
NM_001278293.3(ARL6):c.528G>T (p.Trp176Cys)	rs2037751886
NM_001278293.3(ARL6):c.535G>A (p.Asp179Asn)	rs2037752645

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