ClinVar Miner

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

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Total variants: 101
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HGVS dbSNP gnomAD frequency
NM_001278293.3(ARL6):c.442T>G (p.Cys148Gly) rs148745414 0.00069
NM_001278293.3(ARL6):c.481G>T (p.Ala161Ser) rs567825969 0.00033
NM_001278293.3(ARL6):c.350-7C>T rs375454860 0.00008
NM_001278293.3(ARL6):c.453C>T (p.Asn151=) rs947207333 0.00006
NM_001278293.3(ARL6):c.147A>T (p.Pro49=) rs570616502 0.00004
NM_001278293.3(ARL6):c.33T>A (p.Leu11=) rs753656245 0.00004
NM_001278293.3(ARL6):c.536-4T>C rs201939836 0.00004
NM_001278293.3(ARL6):c.93G>A (p.Thr31=) rs778479091 0.00003
NM_001278293.3(ARL6):c.185+9C>T rs768962345 0.00002
NM_001278293.3(ARL6):c.479+7T>C rs924315465 0.00002
NM_001278293.3(ARL6):c.186-11T>G rs370656150 0.00001
NM_001278293.3(ARL6):c.254+8C>T rs772021931 0.00001
NM_001278293.3(ARL6):c.432T>A (p.Ser144=) rs1324293417 0.00001
NM_001278293.3(ARL6):c.519T>C (p.Gly173=) rs200888923 0.00001
NM_001278293.3(ARL6):c.63G>A (p.Leu21=) rs369665795 0.00001
NM_001278293.3(ARL6):c.96G>A (p.Thr32=) rs771538955 0.00001
NM_001278293.3(ARL6):c.99C>T (p.Ile33=) rs772756275 0.00001
NM_001278293.3(ARL6):c.123+12T>C
NM_001278293.3(ARL6):c.123+19T>C
NM_001278293.3(ARL6):c.123+19T>G
NM_001278293.3(ARL6):c.124-13T>G
NM_001278293.3(ARL6):c.124-16G>A
NM_001278293.3(ARL6):c.124-16G>T
NM_001278293.3(ARL6):c.124-17T>C
NM_001278293.3(ARL6):c.124-20C>G
NM_001278293.3(ARL6):c.126T>G (p.Ala42=)
NM_001278293.3(ARL6):c.129A>G (p.Gln43=)
NM_001278293.3(ARL6):c.141C>T (p.Ile47=)
NM_001278293.3(ARL6):c.150A>C (p.Thr50=)
NM_001278293.3(ARL6):c.153A>C (p.Ile51=)
NM_001278293.3(ARL6):c.185+15C>G
NM_001278293.3(ARL6):c.185+15C>T
NM_001278293.3(ARL6):c.185+16C>T
NM_001278293.3(ARL6):c.185+7C>A
NM_001278293.3(ARL6):c.186-5T>G
NM_001278293.3(ARL6):c.201G>C (p.Val67=) rs2108034087
NM_001278293.3(ARL6):c.207C>T (p.Asp69=)
NM_001278293.3(ARL6):c.213A>T (p.Ser71=)
NM_001278293.3(ARL6):c.249T>C (p.Tyr83=) rs888140182
NM_001278293.3(ARL6):c.24A>C (p.Ser8=)
NM_001278293.3(ARL6):c.254+12T>A
NM_001278293.3(ARL6):c.254+13G>A
NM_001278293.3(ARL6):c.254+7A>G
NM_001278293.3(ARL6):c.254+9A>C
NM_001278293.3(ARL6):c.255-10C>T
NM_001278293.3(ARL6):c.255-15C>A
NM_001278293.3(ARL6):c.255-16T>C
NM_001278293.3(ARL6):c.255-17T>G
NM_001278293.3(ARL6):c.255-5C>T
NM_001278293.3(ARL6):c.255-6A>T
NM_001278293.3(ARL6):c.255-7del
NM_001278293.3(ARL6):c.261C>G (p.Gly87=)
NM_001278293.3(ARL6):c.267T>A (p.Ala89=)
NM_001278293.3(ARL6):c.28T>C (p.Leu10=)
NM_001278293.3(ARL6):c.294T>C (p.Asp98=)
NM_001278293.3(ARL6):c.298T>C (p.Leu100=)
NM_001278293.3(ARL6):c.300A>G (p.Leu100=)
NM_001278293.3(ARL6):c.327C>T (p.Leu109=)
NM_001278293.3(ARL6):c.330T>C (p.Asp110=)
NM_001278293.3(ARL6):c.336T>G (p.Leu112=)
NM_001278293.3(ARL6):c.348A>G (p.Pro116=) rs2108053948
NM_001278293.3(ARL6):c.349+19G>A
NM_001278293.3(ARL6):c.349+7G>A
NM_001278293.3(ARL6):c.350-14A>G
NM_001278293.3(ARL6):c.350-14_350-12del
NM_001278293.3(ARL6):c.350-18T>C
NM_001278293.3(ARL6):c.350-20A>G
NM_001278293.3(ARL6):c.350-6T>G
NM_001278293.3(ARL6):c.350-7_350-6del
NM_001278293.3(ARL6):c.350-8T>C rs2108067599
NM_001278293.3(ARL6):c.350-9C>T
NM_001278293.3(ARL6):c.360C>T (p.His120=)
NM_001278293.3(ARL6):c.384T>C (p.Phe128=)
NM_001278293.3(ARL6):c.414G>C (p.Val138=)
NM_001278293.3(ARL6):c.432T>C (p.Ser144=)
NM_001278293.3(ARL6):c.438G>A (p.Leu146=)
NM_001278293.3(ARL6):c.468C>A (p.Pro156=)
NM_001278293.3(ARL6):c.474T>C (p.His158=)
NM_001278293.3(ARL6):c.479+13A>G
NM_001278293.3(ARL6):c.479+14T>C
NM_001278293.3(ARL6):c.479+17_479+20del rs759965769
NM_001278293.3(ARL6):c.480-10T>A
NM_001278293.3(ARL6):c.480-12A>T
NM_001278293.3(ARL6):c.480-13G>A
NM_001278293.3(ARL6):c.480-15T>C
NM_001278293.3(ARL6):c.480-16A>G
NM_001278293.3(ARL6):c.480-20T>C
NM_001278293.3(ARL6):c.483T>C (p.Ala161=)
NM_001278293.3(ARL6):c.501A>C (p.Gly167=)
NM_001278293.3(ARL6):c.510G>A (p.Leu170=)
NM_001278293.3(ARL6):c.535+11A>G rs1186132444
NM_001278293.3(ARL6):c.535+16C>A
NM_001278293.3(ARL6):c.535+17T>G
NM_001278293.3(ARL6):c.535+8A>G rs2037753193
NM_001278293.3(ARL6):c.536-15_536-12del
NM_001278293.3(ARL6):c.536-8G>A rs748740752
NM_001278293.3(ARL6):c.558A>G (p.Thr186=)
NM_001278293.3(ARL6):c.61T>C (p.Leu21=)
NM_001278293.3(ARL6):c.75A>G (p.Leu25=)
NM_001278293.3(ARL6):c.75A>T (p.Leu25=)
NM_001278293.3(ARL6):c.81T>C (p.Asn27=)

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