ClinVar Miner

List of variants studied for Bardet-Biedl syndrome 1; Bardet-Biedl syndrome 3; Retinitis pigmentosa 55 by Fulgent Genetics, Fulgent Genetics

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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_001278293.3(ARL6):c.493A>G (p.Ile165Val) rs146978266 0.00037
NM_001278293.3(ARL6):c.17G>C (p.Arg6Thr) rs751957701 0.00002
NM_001278293.3(ARL6):c.266C>G (p.Ala89Gly) rs587777805 0.00002
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.186-11T>G rs370656150 0.00001
NM_001278293.3(ARL6):c.226T>C (p.Tyr76His) rs749599192 0.00001
NM_001278293.3(ARL6):c.272T>C (p.Ile91Thr) rs137854907 0.00001
NM_001278293.3(ARL6):c.344A>G (p.His115Arg) rs1238121913 0.00001
NM_001278293.3(ARL6):c.362G>A (p.Arg121His) rs765715798 0.00001
NM_001278293.3(ARL6):c.418T>C (p.Ser140Pro) rs1463393274 0.00001
NM_001278293.3(ARL6):c.471G>C (p.Trp157Cys) rs1559687672 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.-13_12dup (p.Asp5fs)
NM_001278293.3(ARL6):c.140T>A (p.Ile47Asn) rs757995078
NM_001278293.3(ARL6):c.152T>C (p.Ile51Thr)
NM_001278293.3(ARL6):c.212C>T (p.Ser71Leu)
NM_001278293.3(ARL6):c.29T>A (p.Leu10Ter) rs2036471593
NM_001278293.3(ARL6):c.306G>C (p.Met102Ile)
NM_001278293.3(ARL6):c.308T>C (p.Val103Ala)
NM_001278293.3(ARL6):c.480-2A>C
NM_001278293.3(ARL6):c.498del (p.Gly167fs)
NM_001278293.3(ARL6):c.49G>A (p.Glu17Lys) rs201736026
NM_001278293.3(ARL6):c.51G>C (p.Glu17Asp)
NM_001278293.3(ARL6):c.524A>C (p.Asp175Ala) rs570080567
NM_001278293.3(ARL6):c.52G>A (p.Val18Ile)
NM_001278293.3(ARL6):c.68T>C (p.Leu23Pro)
NM_001278293.3(ARL6):c.92C>T (p.Thr31Met) rs104893680
NM_001278293.3(ARL6):c.95C>T (p.Thr32Met)

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