List of variants in gene ARL6 reported as likely pathogenic for Bardet-Biedl syndrome 1; Bardet-Biedl syndrome 3; Retinitis pigmentosa 55

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_001278293.3(ARL6):c.281T>C (p.Ile94Thr)	rs771054395	0.00002
NM_001278293.3(ARL6):c.499G>A (p.Gly167Arg)	rs764523283	0.00002
NM_001278293.3(ARL6):c.362G>A (p.Arg121His)	rs765715798	0.00001
NM_001278293.3(ARL6):c.506G>C (p.Gly169Ala)	rs104893679	0.00001
NM_001278293.3(ARL6):c.92C>G (p.Thr31Arg)	rs104893680	0.00001
NM_001278293.3(ARL6):c.29T>A (p.Leu10Ter)	rs2036471593
NM_001278293.3(ARL6):c.480-2A>C
NM_001278293.3(ARL6):c.498del (p.Gly167fs)
NM_001278293.3(ARL6):c.68T>C (p.Leu23Pro)

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