ClinVar Miner

List of variants studied for Joubert syndrome by Revvity Omics, Revvity

Included ClinVar conditions (97):
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ClinVar version:
Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_001082538.3(TCTN1):c.1471A>T (p.Ile491Phe) rs201894544 0.00146
NM_001174150.2(ARL13B):c.1151G>A (p.Gly384Glu) rs146264035 0.00143
NM_001134831.2(AHI1):c.1533T>G (p.Val511=) rs373669500 0.00058
NM_001044385.3(TMEM237):c.251A>G (p.Gln84Arg) rs373811074 0.00048
NM_001134831.2(AHI1):c.989A>G (p.Asp330Gly) rs200201741 0.00041
NM_001174150.2(ARL13B):c.1217A>G (p.Tyr406Cys) rs149679906 0.00033
NM_173348.2(FAM149B1):c.1189T>G (p.Trp397Gly) rs202136724 0.00028
NM_001134831.2(AHI1):c.221T>A (p.Ile74Asn) rs370059449 0.00021
NM_006346.4(PIBF1):c.1124A>G (p.Asn375Ser) rs376306777 0.00016
NM_001382391.1(CSPP1):c.2629C>T (p.Arg877Cys) rs199521775 0.00014
NM_001134831.2(AHI1):c.2962-3T>C rs369713977 0.00013
NM_001352754.2(ARMC9):c.1027C>T (p.Arg343Cys) rs759799287 0.00011
NM_001134831.2(AHI1):c.1405T>C (p.Cys469Arg) rs539194432 0.00007
NM_001044385.3(TMEM237):c.52C>T (p.Arg18Ter) rs199469707 0.00006
NM_006346.4(PIBF1):c.1931C>T (p.Thr644Met) rs115402574 0.00006
NM_001134831.2(AHI1):c.3032C>G (p.Ser1011Ter) rs777215595 0.00005
NM_001044385.3(TMEM237):c.42+1G>A rs1378726802 0.00004
NM_001352754.2(ARMC9):c.1340C>T (p.Pro447Leu) rs778877264 0.00004
NM_001382391.1(CSPP1):c.2335C>T (p.Arg779Ter) rs587777138 0.00004
NM_001382391.1(CSPP1):c.631C>T (p.Arg211Ter) rs375113643 0.00004
NM_006346.4(PIBF1):c.1213C>T (p.Arg405Ter) rs751280996 0.00004
NM_001174150.2(ARL13B):c.1007G>A (p.Arg336Gln) rs550306731 0.00003
NM_001382391.1(CSPP1):c.1218G>C (p.Ala406=) rs752326108 0.00003
NM_001382391.1(CSPP1):c.2920G>A (p.Ala974Thr) rs767140972 0.00003
NM_001134831.2(AHI1):c.313C>T (p.Gln105Ter) rs774628957 0.00002
NM_001382391.1(CSPP1):c.800G>A (p.Arg267His) rs781737308 0.00002
NM_001044385.3(TMEM237):c.889T>C (p.Ser297Pro) rs761660963 0.00001
NM_001134831.2(AHI1):c.1828C>T (p.Arg610Ter) rs751734985 0.00001
NM_001134831.2(AHI1):c.1868T>C (p.Ile623Thr) rs1303133332 0.00001
NM_001174150.2(ARL13B):c.834A>T (p.Gln278His) rs772186970 0.00001
NM_001382391.1(CSPP1):c.-128C>T rs775895663 0.00001
NM_001382391.1(CSPP1):c.1372A>G (p.Thr458Ala) rs533327313 0.00001
NM_001382391.1(CSPP1):c.303+3A>T rs920556156 0.00001
NM_001382391.1(CSPP1):c.3641G>A (p.Gly1214Asp) rs2491094403 0.00001
NM_018718.3(CEP41):c.1004G>A (p.Arg335Lys) rs782672149 0.00001
NM_173348.2(FAM149B1):c.1563_1567del (p.Asp522fs) rs1245678935 0.00001
NM_001044385.3(TMEM237):c.62del (p.Pro21fs) rs1574587553
NM_001082538.3(TCTN1):c.1769C>T (p.Pro590Leu) rs1204822464
NM_001134831.2(AHI1):c.1044C>A (p.Tyr348Ter) rs2128081591
NM_001134831.2(AHI1):c.1094dup (p.Met365fs) rs2128081478
NM_001134831.2(AHI1):c.1328T>A (p.Val443Asp) rs121434350
NM_001134831.2(AHI1):c.1369_1373del (p.Asp456_Glu457insTer) rs2128071123
NM_001134831.2(AHI1):c.3059dup (p.Asn1020fs) rs1463748841
NM_001352754.2(ARMC9):c.178-2A>C rs1248147660
NM_001382391.1(CSPP1):c.1822C>T (p.Gln608Ter) rs1821344202
NM_001382391.1(CSPP1):c.2538+1G>T rs2129560295
NM_001382391.1(CSPP1):c.2552del (p.Pro851fs) rs2129561783
NM_001382391.1(CSPP1):c.3330+2T>C rs527372531
NM_002601.4(PDE6D):c.257del (p.Cys86fs) rs2048717087
NM_015202.5(KATNIP):c.3632-1G>C rs2543369039
NM_016464.5(TMEM138):c.287A>G (p.His96Arg) rs387907132

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