ClinVar Miner

List of variants in gene ARL6 reported as uncertain significance for Bardet-Biedl syndrome 3; Retinitis pigmentosa 55

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Total variants: 59
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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.365G>A (p.Arg122Gln) rs142258123 0.00006
NM_001278293.3(ARL6):c.121A>G (p.Asn41Asp) rs201618364 0.00005
NM_001278293.3(ARL6):c.350A>G (p.Asp117Gly) rs370120886 0.00004
NM_001278293.3(ARL6):c.529C>T (p.Leu177Phe) rs750627875 0.00003
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.458A>G (p.Lys153Arg) rs771963434 0.00002
NM_001278293.3(ARL6):c.168G>C (p.Glu56Asp) rs1295586318 0.00001
NM_001278293.3(ARL6):c.197C>T (p.Thr66Ile) rs150667690 0.00001
NM_001278293.3(ARL6):c.226T>C (p.Tyr76His) rs749599192 0.00001
NM_001278293.3(ARL6):c.307G>T (p.Val103Phe) rs774150149 0.00001
NM_001278293.3(ARL6):c.317A>G (p.Lys106Arg) rs2037383699 0.00001
NM_001278293.3(ARL6):c.344A>G (p.His115Arg) rs1238121913 0.00001
NM_001278293.3(ARL6):c.361C>T (p.Arg121Cys) rs202044896 0.00001
NM_001278293.3(ARL6):c.418T>C (p.Ser140Pro) rs1463393274 0.00001
NM_001278293.3(ARL6):c.430T>C (p.Ser144Pro) rs1418049586 0.00001
NM_001278293.3(ARL6):c.471G>C (p.Trp157Cys) rs1559687672 0.00001
NM_001278293.3(ARL6):c.538C>T (p.Gln180Ter) rs201105839 0.00001
NM_001278293.3(ARL6):c.550G>T (p.Val184Leu) rs1389543975 0.00001
NC_000003.11:g.(?_97486952)_(97487094_?)dup
NC_000003.11:g.(?_97486952)_(97510690_?)dup
NC_000003.11:g.(?_97486952)_(97516893_?)dup
NM_001278293.3(ARL6):c.107A>G (p.Lys36Arg)
NM_001278293.3(ARL6):c.109C>G (p.Leu37Val) rs746549147
NM_001278293.3(ARL6):c.122A>G (p.Asn41Ser) rs1488740103
NM_001278293.3(ARL6):c.140T>A (p.Ile47Asn) rs757995078
NM_001278293.3(ARL6):c.140T>C (p.Ile47Thr)
NM_001278293.3(ARL6):c.143T>A (p.Leu48His) rs895572972
NM_001278293.3(ARL6):c.152T>C (p.Ile51Thr)
NM_001278293.3(ARL6):c.166G>C (p.Glu56Gln) rs2108031980
NM_001278293.3(ARL6):c.17G>A (p.Arg6Lys) rs751957701
NM_001278293.3(ARL6):c.215G>C (p.Gly72Ala)
NM_001278293.3(ARL6):c.221G>A (p.Gly74Glu)
NM_001278293.3(ARL6):c.235C>T (p.Leu79Phe)
NM_001278293.3(ARL6):c.254+1371G>A
NM_001278293.3(ARL6):c.255A>G (p.Lys85=)
NM_001278293.3(ARL6):c.296G>A (p.Arg99Lys)
NM_001278293.3(ARL6):c.308T>C (p.Val103Ala)
NM_001278293.3(ARL6):c.30G>C (p.Leu10Phe) rs963216166
NM_001278293.3(ARL6):c.319GAA[1] (p.Glu108del)
NM_001278293.3(ARL6):c.320A>G (p.Glu107Gly)
NM_001278293.3(ARL6):c.328G>A (p.Asp110Asn) rs200100002
NM_001278293.3(ARL6):c.341A>G (p.Asn114Ser) rs2037385151
NM_001278293.3(ARL6):c.349+4T>C rs1214919112
NM_001278293.3(ARL6):c.386C>T (p.Ala129Val)
NM_001278293.3(ARL6):c.409G>T (p.Ala137Ser)
NM_001278293.3(ARL6):c.40AAG[2] (p.Lys16del) rs748472414
NM_001278293.3(ARL6):c.43A>G (p.Lys15Glu) rs535835888
NM_001278293.3(ARL6):c.479+4_479+5del rs1285267571
NM_001278293.3(ARL6):c.480-3C>G rs2108084021
NM_001278293.3(ARL6):c.49G>A (p.Glu17Lys) rs201736026
NM_001278293.3(ARL6):c.4G>C (p.Gly2Arg)
NM_001278293.3(ARL6):c.521T>C (p.Val174Ala)
NM_001278293.3(ARL6):c.524A>C (p.Asp175Ala) rs570080567
NM_001278293.3(ARL6):c.52G>A (p.Val18Ile)
NM_001278293.3(ARL6):c.551_552del (p.Val184fs) rs2038086555
NM_001278293.3(ARL6):c.71G>A (p.Gly24Glu) rs1282560467
NM_001278293.3(ARL6):c.76G>T (p.Asp26Tyr)

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