ClinVar Miner

List of variants reported as likely pathogenic for Joubert syndrome 3

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Total variants: 78
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HGVS dbSNP gnomAD frequency
NM_001134831.2(AHI1):c.3257A>G (p.Glu1086Gly) rs148000791 0.00115
NM_001134831.2(AHI1):c.3032C>G (p.Ser1011Ter) rs777215595 0.00005
NM_001134831.2(AHI1):c.1166C>G (p.Ser389Ter) rs761388040 0.00004
NM_001134831.2(AHI1):c.2168G>A (p.Arg723Gln) rs121434351 0.00003
NM_001134831.2(AHI1):c.2388_2389del (p.Glu797fs) rs1272037551 0.00002
NM_001134831.2(AHI1):c.313C>T (p.Gln105Ter) rs774628957 0.00002
NM_001134831.2(AHI1):c.3235C>T (p.Arg1079Ter) rs761732432 0.00002
NM_001134831.2(AHI1):c.533_534del (p.Glu178fs) rs759593846 0.00002
NM_001134831.2(AHI1):c.1660C>T (p.Gln554Ter) rs933648254 0.00001
NM_001134831.2(AHI1):c.1981T>C (p.Ser661Pro) rs1785745572 0.00001
NM_001134831.2(AHI1):c.2036+6T>G rs2128037867 0.00001
NM_001134831.2(AHI1):c.2105C>T (p.Thr702Met) rs756276537 0.00001
NM_001134831.2(AHI1):c.2174G>A (p.Trp725Ter) rs587783013 0.00001
NM_001134831.2(AHI1):c.2266G>T (p.Gly756Cys) rs376754552 0.00001
NM_001134831.2(AHI1):c.2492+1G>A rs187245292 0.00001
NM_001134831.2(AHI1):c.3165+1G>A rs1448108151 0.00001
GRCh37/hg19 6q23.3(chr6:135715893-135732702)
NM_001134831.2(AHI1):c.101del (p.Lys34fs) rs777527386
NM_001134831.2(AHI1):c.108dup (p.Leu37fs)
NM_001134831.2(AHI1):c.1094dup (p.Met365fs) rs2128081478
NM_001134831.2(AHI1):c.1133_1134del (p.Tyr378fs)
NM_001134831.2(AHI1):c.1148A>G (p.Asp383Gly) rs1789162289
NM_001134831.2(AHI1):c.1152-1G>A rs1344854036
NM_001134831.2(AHI1):c.1270del (p.Ile424fs) rs1788846426
NM_001134831.2(AHI1):c.1328T>A (p.Val443Asp) rs121434350
NM_001134831.2(AHI1):c.135+1G>C
NM_001134831.2(AHI1):c.1420del (p.Ile474fs) rs1369440486
NM_001134831.2(AHI1):c.1427G>A (p.Trp476Ter)
NM_001134831.2(AHI1):c.1583C>A (p.Ser528Ter) rs2128058828
NM_001134831.2(AHI1):c.1743_1746del (p.Lys582_Glu583insTer)
NM_001134831.2(AHI1):c.1760G>A (p.Trp587Ter)
NM_001134831.2(AHI1):c.1799_1802del (p.Lys600fs) rs1786504555
NM_001134831.2(AHI1):c.1840dup (p.Cys614fs) rs1163874095
NM_001134831.2(AHI1):c.1861G>T (p.Gly621Ter) rs797045223
NM_001134831.2(AHI1):c.188_189insC (p.Pro64fs)
NM_001134831.2(AHI1):c.195_202del (p.Asp65fs) rs1333095977
NM_001134831.2(AHI1):c.2037-1G>C rs1784918128
NM_001134831.2(AHI1):c.2076_2077del (p.Arg692fs)
NM_001134831.2(AHI1):c.2087A>G (p.His696Arg) rs797045224
NM_001134831.2(AHI1):c.2233del (p.Ser745fs) rs1784890440
NM_001134831.2(AHI1):c.2277G>A (p.Met759Ile)
NM_001134831.2(AHI1):c.2405del (p.Pro802fs)
NM_001134831.2(AHI1):c.2492+5G>A rs2128012406
NM_001134831.2(AHI1):c.2493-2A>G rs886039465
NM_001134831.2(AHI1):c.265_268dup (p.Leu90fs)
NM_001134831.2(AHI1):c.2671C>T (p.Arg891Ter) rs1355690902
NM_001134831.2(AHI1):c.2684ATC[1] (p.His896del) rs2484506355
NM_001134831.2(AHI1):c.2770del (p.Gln924fs)
NM_001134831.2(AHI1):c.2912dup (p.Ser971fs)
NM_001134831.2(AHI1):c.2988del (p.Val997fs) rs755246809
NM_001134831.2(AHI1):c.3059dup (p.Asn1020fs) rs1463748841
NM_001134831.2(AHI1):c.3074_3075del (p.Gln1025fs)
NM_001134831.2(AHI1):c.3088C>T (p.Gln1030Ter) rs2484034993
NM_001134831.2(AHI1):c.3105_3106del (p.Gln1035fs) rs1778992944
NM_001134831.2(AHI1):c.3140del (p.Asn1047fs) rs2483588824
NM_001134831.2(AHI1):c.3166-2A>G
NM_001134831.2(AHI1):c.322del (p.Thr108fs)
NM_001134831.2(AHI1):c.3245del (p.Phe1082fs) rs1787147374
NM_001134831.2(AHI1):c.3328+1G>T
NM_001134831.2(AHI1):c.3425dup (p.Gln1143fs)
NM_001134831.2(AHI1):c.3431C>G (p.Ser1144Ter) rs982379114
NM_001134831.2(AHI1):c.3474del (p.Glu1158fs) rs916567564
NM_001134831.2(AHI1):c.3486-1G>T
NM_001134831.2(AHI1):c.3486-2A>G
NM_001134831.2(AHI1):c.3486-2A>T rs1412515128
NM_001134831.2(AHI1):c.3499_3500insTTCT (p.Lys1167fs)
NM_001134831.2(AHI1):c.430del (p.Glu144fs) rs2128098409
NM_001134831.2(AHI1):c.471dup (p.His158fs)
NM_001134831.2(AHI1):c.478A>T (p.Lys160Ter) rs1257185309
NM_001134831.2(AHI1):c.484C>T (p.Gln162Ter) rs1270654737
NM_001134831.2(AHI1):c.630_633del (p.Lys210fs) rs776569081
NM_001134831.2(AHI1):c.703dup (p.Arg235fs) rs1336317768
NM_001134831.2(AHI1):c.72_85del (p.Ser24fs) rs780910490
NM_001134831.2(AHI1):c.750-1G>A rs2484976975
NM_001134831.2(AHI1):c.812C>A (p.Ser271Ter)
NM_001134831.2(AHI1):c.928del (p.Ala310fs)
NM_001134831.2(AHI1):c.932-1G>C
NM_017651.4(AHI1):c.[2561G>T];[3368C>T]

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