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

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_001278293.3(ARL6):c.362G>A (p.Arg121His)	rs765715798	0.00001
NC_000003.11:g.(?_97498983)_(97499084_?)dup
NM_001278293.3(ARL6):c.123+1G>A
NM_001278293.3(ARL6):c.254+1G>A
NM_001278293.3(ARL6):c.255-1_256del
NM_001278293.3(ARL6):c.350-13_350-2del	rs1576465252
NM_001278293.3(ARL6):c.350-2A>C
NM_001278293.3(ARL6):c.479+1G>A	rs1324418374

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