ClinVar Miner

List of variants reported as pathogenic for Joubert syndrome 1 by Invitae

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 297
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HGVS dbSNP
NC_000004.11:g.(?_15477537)_(15603068_?)del
NC_000004.12:g.(?_15478723)_(15480827_?)del
NC_000004.12:g.(?_15540837)_(15541014_?)del
NC_000006.12:g.(?_135358112)_(135358207_?)del
NC_000006.12:g.(?_135429882)_(135433256_?)del
NC_000006.12:g.(?_135457583)_(135465286_?)del
NC_000009.12:g.(?_136429675)_(136438954_?)del
NC_000012.12:g.(?_110626342)_(110642409_?)del
NC_000012.12:g.(?_123699684)_(123699830_?)del
NC_000012.12:g.(?_87983103)_(88507137_?)del
NC_000016.10:g.(?_53619015)_(53622366_?)del
NC_000016.10:g.(?_53619025)_(53622456_?)del
NC_000023.11:g.(?_13735052)_(13744539_?)del
NC_000023.11:g.(?_13735052)_(13769128_?)del
NC_000023.11:g.(?_13735066)_(13769113_?)del
NM_001080522.2(CC2D2A):c.1017+1G>A rs200407856
NM_001080522.2(CC2D2A):c.1267C>T (p.Arg423Ter) rs757208121
NM_001080522.2(CC2D2A):c.1558C>T (p.Arg520Ter) rs781252161
NM_001080522.2(CC2D2A):c.2625+1G>A rs1577372471
NM_001080522.2(CC2D2A):c.3055C>T (p.Arg1019Ter) rs370880399
NM_001080522.2(CC2D2A):c.3084del (p.Lys1029fs) rs386833749
NM_001080522.2(CC2D2A):c.3145C>T (p.Arg1049Ter) rs386833750
NM_001080522.2(CC2D2A):c.3289delG rs386833751
NM_001080522.2(CC2D2A):c.3588del (p.Ala1197fs) rs982352950
NM_001080522.2(CC2D2A):c.3652C>T (p.Arg1218Ter) rs375278294
NM_001080522.2(CC2D2A):c.3744_3747dup (p.Pro1250fs) rs863225171
NM_001080522.2(CC2D2A):c.394C>T (p.Arg132Ter) rs377177061
NM_001080522.2(CC2D2A):c.3988C>T (p.Arg1330Ter) rs758036385
NM_001080522.2(CC2D2A):c.4084dup (p.Ala1362fs) rs1313708855
NM_001080522.2(CC2D2A):c.4179+1del rs386833760
NM_001080522.2(CC2D2A):c.4465_4468del (p.Asp1489fs) rs797045437
NM_001080522.2(CC2D2A):c.4552C>T (p.Arg1518Trp) rs767260373
NM_001080522.2(CC2D2A):c.541-1G>A
NM_001080522.2(CC2D2A):c.650del (p.Gly217fs) rs746415983
NM_001080522.2(CC2D2A):c.964del (p.Val322fs) rs1577340510
NM_001082538.3(TCTN1):c.436dup (p.Ile146fs)
NM_001082538.3(TCTN1):c.843+1G>C
NM_001082538.3(TCTN1):c.902_929dup (p.Leu311_Val312insGlyGlyHisTer)
NM_001134831.2(AHI1):c.1051C>T (p.Arg351Ter) rs121434348
NM_001134831.2(AHI1):c.1267C>T (p.Gln423Ter) rs777668842
NM_001134831.2(AHI1):c.1312dup (p.Asp438fs)
NM_001134831.2(AHI1):c.1355del (p.Phe452fs) rs1554208431
NM_001134831.2(AHI1):c.1497_1498del (p.Tyr499_Tyr500delinsTer) rs905262279
NM_001134831.2(AHI1):c.1516C>T (p.Arg506Ter) rs371637724
NM_001134831.2(AHI1):c.1626+1G>A rs863225137
NM_001134831.2(AHI1):c.1677dup (p.Pro560fs) rs1554350503
NM_001134831.2(AHI1):c.1840dup (p.Cys614fs)
NM_001134831.2(AHI1):c.1861G>T (p.Gly621Ter) rs797045223
NM_001134831.2(AHI1):c.1889del (p.Ser630fs)
NM_001134831.2(AHI1):c.2098_2099dup (p.Tyr701fs) rs863225136
NM_001134831.2(AHI1):c.2247dup (p.Leu750fs)
NM_001134831.2(AHI1):c.2315_2318del (p.Asn772fs)
NM_001134831.2(AHI1):c.2492+1G>A rs187245292
NM_001134831.2(AHI1):c.2671C>T (p.Arg891Ter) rs1355690902
NM_001134831.2(AHI1):c.2912_2919dup (p.Thr974fs)
NM_001134831.2(AHI1):c.3032C>G (p.Ser1011Ter) rs777215595
NM_001134831.2(AHI1):c.3229_3235dup (p.Arg1079fs)
NM_001134831.2(AHI1):c.3364C>T (p.Arg1122Ter)
NM_001134831.2(AHI1):c.484C>T (p.Gln162Ter)
NM_001134831.2(AHI1):c.703dup (p.Arg235fs)
NM_001134831.2(AHI1):c.72_85del (p.Ser24fs) rs780910490
NM_001134831.2(AHI1):c.836del (p.Asp279fs) rs1554214237
NM_001134831.2(AHI1):c.910del (p.Thr304fs)
NM_001134831.2(AHI1):c.910dup (p.Thr304fs) rs753874898
NM_001142301.1(TMEM67):c.1170-1G>C rs386834185
NM_001142301.1(TMEM67):c.2071_2079+4delinsGG rs1064792983
NM_001165927.1(MKS1):c.1085_1087del (p.Ser362del) rs754279998
NM_001165927.1(MKS1):c.1357C>G (p.Arg453Gly) rs766392300
NM_001165927.1(MKS1):c.1364del (p.Pro455fs) rs865870355
NM_001165927.1(MKS1):c.1378-34_1378-6del rs386834043
NM_001165927.1(MKS1):c.1420_1423dup (p.Thr475fs) rs386834044
NM_001165927.1(MKS1):c.203T>G (p.Ile68Ser) rs786204222
NM_001165927.1(MKS1):c.478C>T (p.Arg160Ter) rs756853299
NM_001165927.1(MKS1):c.615-2A>T rs773036963
NM_001165927.1(MKS1):c.799G>T (p.Glu267Ter) rs1555599412
NM_001165927.1(MKS1):c.994+1G>A rs199874059
NM_001173990.3(TMEM216):c.217C>T (p.Arg73Cys) rs779526456
NM_001173990.3(TMEM216):c.218G>A (p.Arg73His) rs201108965
NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu) rs201108965
NM_001173990.3(TMEM216):c.253C>T (p.Arg85Ter) rs11230683
NM_001378615.1(CC2D2A):c.2222_2229dup (p.Phe744fs)
NM_001378615.1(CC2D2A):c.2774G>C (p.Arg925Pro)
NM_001378615.1(CC2D2A):c.3325C>T (p.Arg1109Ter)
NM_001378615.1(CC2D2A):c.4667A>T (p.Asp1556Val) rs201502401
NM_001378615.1(CC2D2A):c.941_943delinsC (p.Leu314fs)
NM_003611.3(OFD1):c.1313C>G (p.Ser438Ter) rs1569141500
NM_003611.3(OFD1):c.1980dup (p.Ala661fs)
NM_003611.3(OFD1):c.2126_2129del (p.Glu709fs) rs312262890
NM_003611.3(OFD1):c.260A>G (p.Tyr87Cys) rs312262818
NM_003611.3(OFD1):c.2725C>T (p.Arg909Ter) rs1060500123
NM_003611.3(OFD1):c.2784_2788TAAAA[1] (p.Ile930fs) rs797044945
NM_003611.3(OFD1):c.400_403del (p.Glu134fs) rs312262830
NM_003611.3(OFD1):c.560dup (p.Tyr187Ter) rs1555902640
NM_003611.3(OFD1):c.565C>T (p.Gln189Ter)
NM_003611.3(OFD1):c.710del (p.Lys237fs) rs312262845
NM_003611.3(OFD1):c.748G>T (p.Glu250Ter) rs1555902866
NM_003611.3(OFD1):c.794dup (p.Ser266fs)
NM_003611.3(OFD1):c.915_916del (p.Arg306fs) rs1569128307
NM_015272.5(RPGRIP1L):c.1052T>A (p.Leu351Ter)
NM_015272.5(RPGRIP1L):c.1072_1073dup (p.Leu358fs) rs1060501006
NM_015272.5(RPGRIP1L):c.1120del (p.His374fs) rs878855006
NM_015272.5(RPGRIP1L):c.1278del (p.Glu426fs)
NM_015272.5(RPGRIP1L):c.1290_1291del (p.Tyr431fs)
NM_015272.5(RPGRIP1L):c.1326_1329del (p.Lys442fs)
NM_015272.5(RPGRIP1L):c.1329dup (p.Arg444fs) rs749987648
NM_015272.5(RPGRIP1L):c.1421del (p.Asn474fs) rs760952407
NM_015272.5(RPGRIP1L):c.1489G>T (p.Glu497Ter) rs756821449
NM_015272.5(RPGRIP1L):c.1603del (p.Arg535fs)
NM_015272.5(RPGRIP1L):c.1649A>G (p.Gln550Arg)
NM_015272.5(RPGRIP1L):c.1709dup (p.Asp571fs) rs778149316
NM_015272.5(RPGRIP1L):c.1799T>G (p.Leu600Ter)
NM_015272.5(RPGRIP1L):c.1804C>T (p.Arg602Ter)
NM_015272.5(RPGRIP1L):c.1843A>C (p.Thr615Pro) rs121918198
NM_015272.5(RPGRIP1L):c.1873G>T (p.Gly625Ter) rs1156977888
NM_015272.5(RPGRIP1L):c.1945C>T (p.Arg649Ter) rs751477523
NM_015272.5(RPGRIP1L):c.196C>T (p.Gln66Ter) rs751444506
NM_015272.5(RPGRIP1L):c.2050C>T (p.Gln684Ter) rs121918204
NM_015272.5(RPGRIP1L):c.2104G>T (p.Glu702Ter)
NM_015272.5(RPGRIP1L):c.2200C>T (p.Arg734Ter) rs751128300
NM_015272.5(RPGRIP1L):c.2230C>T (p.Arg744Ter) rs267604575
NM_015272.5(RPGRIP1L):c.2303C>A (p.Ser768Ter)
NM_015272.5(RPGRIP1L):c.2354_2367delinsTTAC (p.Thr785fs)
NM_015272.5(RPGRIP1L):c.2466del (p.Phe822fs)
NM_015272.5(RPGRIP1L):c.2468_2477del (p.Ala823fs)
NM_015272.5(RPGRIP1L):c.2614C>T (p.Gln872Ter) rs121918203
NM_015272.5(RPGRIP1L):c.2760C>A (p.Tyr920Ter)
NM_015272.5(RPGRIP1L):c.2794_2795del (p.Leu932fs) rs778824093
NM_015272.5(RPGRIP1L):c.2939del (p.Ile980fs) rs1182447072
NM_015272.5(RPGRIP1L):c.310C>T (p.Arg104Ter)
NM_015272.5(RPGRIP1L):c.3121A>T (p.Lys1041Ter)
NM_015272.5(RPGRIP1L):c.3297_3298TC[3] (p.Ala1101fs) rs797045104
NM_015272.5(RPGRIP1L):c.3461dup (p.Ala1155fs)
NM_015272.5(RPGRIP1L):c.3556_3557AC[3] (p.Pro1187fs)
NM_015272.5(RPGRIP1L):c.3647_3651del (p.Ala1216fs)
NM_015272.5(RPGRIP1L):c.394A>T (p.Arg132Ter) rs121918201
NM_015272.5(RPGRIP1L):c.583A>T (p.Lys195Ter) rs1277577195
NM_015272.5(RPGRIP1L):c.65_66dup (p.Gly23fs) rs1567902051
NM_015272.5(RPGRIP1L):c.745C>T (p.Gln249Ter)
NM_015272.5(RPGRIP1L):c.751C>T (p.Arg251Ter)
NM_015272.5(RPGRIP1L):c.757C>T (p.Gln253Ter) rs121918199
NM_015272.5(RPGRIP1L):c.946C>T (p.Gln316Ter) rs1598375579
NM_015272.5(RPGRIP1L):c.972del (p.Cys325fs) rs757594906
NM_015272.5(RPGRIP1L):c.986_987del (p.Lys329fs) rs1470967742
NM_015681.5(B9D1):c.341+2T>C rs143149764
NM_017777.4(MKS1):c.1222C>T (p.Gln408Ter)
NM_017777.4(MKS1):c.124C>T (p.Gln42Ter)
NM_017777.4(MKS1):c.1408-1dup rs762668200
NM_017777.4(MKS1):c.417G>A (p.Glu139=) rs386834048
NM_017777.4(MKS1):c.458C>A (p.Ser153Ter)
NM_017777.4(MKS1):c.499C>T (p.Gln167Ter)
NM_017777.4(MKS1):c.564_565insTTCT (p.Glu189delinsPheTer)
NM_017777.4(MKS1):c.79C>T (p.Arg27Ter)
NM_017777.4(MKS1):c.94del (p.Arg32fs)
NM_019892.6(INPP5E):c.1132C>T (p.Arg378Cys) rs121918130
NM_019892.6(INPP5E):c.1304G>A (p.Arg435Gln) rs121918129
NM_019892.6(INPP5E):c.1844T>G (p.Leu615Ter) rs1564430716
NM_019892.6(INPP5E):c.473dup (p.Gly158_Asn159insTer)
NM_019892.6(INPP5E):c.748del (p.Leu250fs)
NM_020785.2(CC2D2A):c.305del (p.Gly102fs) rs1433294475
NM_024809.5(TCTN2):c.367dup (p.Leu123fs) rs748951253
NM_024809.5(TCTN2):c.524dup (p.Leu175fs) rs760034947
NM_024809.5(TCTN2):c.652_659dup (p.Ala221fs) rs915737037
NM_024809.5(TCTN2):c.72G>A (p.Trp24Ter)
NM_025114.3(CEP290):c.1219_1220delAT (p.Met407Glufs) rs386834148
NM_025114.3(CEP290):c.1512_1515delAGAG (p.Arg504Serfs) rs886043303
NM_025114.3(CEP290):c.4438-318_7243del
NM_025114.3(CEP290):c.5434_5435delGA (p.Glu1812Lysfs) rs757609119
NM_025114.3(CEP290):c.5813_5817delCTTTA (p.Thr1938Asnfs) rs62638180
NM_025114.3(CEP290):c.6277delG (p.Val2093Serfs) rs771454167
NM_025114.3:c.5728_5731delATTA rs754728136
NM_025114.4(CEP290):c.-8_2del (p.Met1fs)
NM_025114.4(CEP290):c.1066-1G>A rs965522059
NM_025114.4(CEP290):c.1072C>T (p.Gln358Ter) rs1592656929
NM_025114.4(CEP290):c.1078C>T (p.Arg360Ter) rs776645403
NM_025114.4(CEP290):c.1189+1G>A
NM_025114.4(CEP290):c.1338del (p.Arg447fs)
NM_025114.4(CEP290):c.1390G>T (p.Glu464Ter)
NM_025114.4(CEP290):c.1393del (p.Glu464_Ile465insTer)
NM_025114.4(CEP290):c.1419_1423del (p.Ile474fs) rs771266705
NM_025114.4(CEP290):c.1429C>T (p.Arg477Ter) rs1170451277
NM_025114.4(CEP290):c.1451del (p.Lys484fs) rs386834149
NM_025114.4(CEP290):c.1474A>T (p.Lys492Ter) rs1278679056
NM_025114.4(CEP290):c.1627G>T (p.Glu543Ter)
NM_025114.4(CEP290):c.1645C>T (p.Arg549Ter) rs760415289
NM_025114.4(CEP290):c.164_167del (p.Thr55fs) rs758550675
NM_025114.4(CEP290):c.1666del (p.Ile556fs) rs727503855
NM_025114.4(CEP290):c.1666dup (p.Ile556fs) rs727503855
NM_025114.4(CEP290):c.166C>T (p.Gln56Ter) rs1592706963
NM_025114.4(CEP290):c.1753C>T (p.Gln585Ter)
NM_025114.4(CEP290):c.180+1G>A rs758593134
NM_025114.4(CEP290):c.1856_1859AAGA[1] (p.Arg621fs) rs766608755
NM_025114.4(CEP290):c.1858G>T (p.Glu620Ter) rs1203763812
NM_025114.4(CEP290):c.1862_1863GA[1] (p.Asp622fs)
NM_025114.4(CEP290):c.1915G>T (p.Glu639Ter) rs1555220625
NM_025114.4(CEP290):c.1936C>T (p.Gln646Ter) rs780225183
NM_025114.4(CEP290):c.1984C>T (p.Gln662Ter) rs386834152
NM_025114.4(CEP290):c.1992del (p.Pro665fs)
NM_025114.4(CEP290):c.2052+1_2052+2del rs747835249
NM_025114.4(CEP290):c.2112del (p.Val705fs) rs863225183
NM_025114.4(CEP290):c.2119_2123dup (p.Thr709fs) rs62640580
NM_025114.4(CEP290):c.2390del (p.Lys797fs) rs781670422
NM_025114.4(CEP290):c.2605C>T (p.Gln869Ter)
NM_025114.4(CEP290):c.289G>T (p.Glu97Ter) rs386834153
NM_025114.4(CEP290):c.292_293insA (p.Leu98fs)
NM_025114.4(CEP290):c.297+1G>T rs878853360
NM_025114.4(CEP290):c.2991+1655A>G rs281865192
NM_025114.4(CEP290):c.3104-5T>G rs1302558061
NM_025114.4(CEP290):c.3175dup (p.Ile1059fs) rs62640570
NM_025114.4(CEP290):c.3205_3206delinsTG (p.Glu1069Ter) rs1555212150
NM_025114.4(CEP290):c.3212dup (p.Arg1072fs)
NM_025114.4(CEP290):c.322C>T (p.Arg108Ter) rs1290241933
NM_025114.4(CEP290):c.3240T>G (p.Tyr1080Ter)
NM_025114.4(CEP290):c.3249_3250insAA (p.Arg1084fs)
NM_025114.4(CEP290):c.3310-1_3310delinsAA
NM_025114.4(CEP290):c.338T>A (p.Leu113Ter)
NM_025114.4(CEP290):c.3422dup (p.Leu1141fs)
NM_025114.4(CEP290):c.3514C>T (p.Gln1172Ter)
NM_025114.4(CEP290):c.3520C>T (p.Gln1174Ter)
NM_025114.4(CEP290):c.3533del (p.Lys1178fs)
NM_025114.4(CEP290):c.3593C>A (p.Ser1198Ter)
NM_025114.4(CEP290):c.367C>T (p.Gln123Ter)
NM_025114.4(CEP290):c.3783del (p.Lys1261fs)
NM_025114.4(CEP290):c.3802C>T (p.Gln1268Ter) rs1468942944
NM_025114.4(CEP290):c.3811C>T (p.Arg1271Ter)
NM_025114.4(CEP290):c.3814C>T (p.Arg1272Ter) rs62640581
NM_025114.4(CEP290):c.384_387del (p.Asp128fs) rs386834157
NM_025114.4(CEP290):c.3894dup (p.Lys1299Ter)
NM_025114.4(CEP290):c.4028del (p.Lys1343fs) rs1213286417
NM_025114.4(CEP290):c.4040G>A (p.Trp1347Ter) rs1339975972
NM_025114.4(CEP290):c.4186C>T (p.Gln1396Ter) rs1459653241
NM_025114.4(CEP290):c.4276_4277del (p.Gln1425_Asn1426insTer) rs863224523
NM_025114.4(CEP290):c.4393C>T (p.Arg1465Ter) rs539400286
NM_025114.4(CEP290):c.4448_4451AGAA[1] (p.Lys1484fs) rs780624853
NM_025114.4(CEP290):c.451C>T (p.Arg151Ter) rs757641323
NM_025114.4(CEP290):c.4522C>T (p.Arg1508Ter) rs749439750
NM_025114.4(CEP290):c.4655AAG[2] (p.Glu1554del)
NM_025114.4(CEP290):c.4705-1G>T rs777464278
NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter) rs137852834
NM_025114.4(CEP290):c.4808_4812del (p.Ala1603fs)
NM_025114.4(CEP290):c.4864_4865delinsT (p.Arg1622fs)
NM_025114.4(CEP290):c.4882C>T (p.Gln1628Ter) rs376493409
NM_025114.4(CEP290):c.4962_4963del (p.Glu1656fs) rs764309755
NM_025114.4(CEP290):c.4964_4965GA[1] (p.Glu1656fs) rs756302731
NM_025114.4(CEP290):c.4966G>T (p.Glu1656Ter) rs62638179
NM_025114.4(CEP290):c.4985_4986del (p.Val1662fs)
NM_025114.4(CEP290):c.508A>T (p.Lys170Ter) rs772170760
NM_025114.4(CEP290):c.5104_5105del (p.Gln1702fs)
NM_025114.4(CEP290):c.5182G>T (p.Glu1728Ter) rs370119681
NM_025114.4(CEP290):c.5212G>T (p.Glu1738Ter) rs1555205328
NM_025114.4(CEP290):c.5344C>T (p.Arg1782Ter) rs575767207
NM_025114.4(CEP290):c.5415del (p.Thr1807fs) rs1592808035
NM_025114.4(CEP290):c.5445_5448del (p.Thr1816fs) rs749331348
NM_025114.4(CEP290):c.5493del (p.Ala1832fs) rs386834158
NM_025114.4(CEP290):c.5512dup (p.Arg1838fs) rs1565822519
NM_025114.4(CEP290):c.5515_5518del (p.Glu1839fs) rs281865187
NM_025114.4(CEP290):c.5587-1G>C rs968692633
NM_025114.4(CEP290):c.5611_5614del (p.Gln1871fs) rs727503853
NM_025114.4(CEP290):c.5649dup (p.Leu1884fs) rs281865188
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832
NM_025114.4(CEP290):c.5745dup (p.Lys1916Ter) rs751361090
NM_025114.4(CEP290):c.5776C>T (p.Arg1926Ter) rs561598805
NM_025114.4(CEP290):c.5850del (p.Phe1950fs) rs386834159
NM_025114.4(CEP290):c.5873_5874del (p.Leu1958fs)
NM_025114.4(CEP290):c.5931_5935del (p.Arg1978fs) rs1555201796
NM_025114.4(CEP290):c.6012-2A>G
NM_025114.4(CEP290):c.6043_6053del (p.Val2015fs)
NM_025114.4(CEP290):c.613C>T (p.Arg205Ter) rs137852835
NM_025114.4(CEP290):c.635dup (p.Asn212fs)
NM_025114.4(CEP290):c.6448_6455del (p.Gln2150fs)
NM_025114.4(CEP290):c.6516del (p.Lys2172fs) rs1057519165
NM_025114.4(CEP290):c.6604del (p.Ile2202fs) rs758329611
NM_025114.4(CEP290):c.6634G>T (p.Glu2212Ter)
NM_025114.4(CEP290):c.6760dup (p.Arg2254fs)
NM_025114.4(CEP290):c.6798G>A (p.Trp2266Ter) rs760540562
NM_025114.4(CEP290):c.6836T>A (p.Leu2279Ter)
NM_025114.4(CEP290):c.6869del (p.Asn2290fs) rs587783017
NM_025114.4(CEP290):c.6869dup (p.Asn2290fs) rs587783017
NM_025114.4(CEP290):c.6919_6920del (p.Glu2307fs)
NM_025114.4(CEP290):c.7073_7077dup (p.His2360Ter) rs1294402003
NM_025114.4(CEP290):c.7153del (p.Lys2384_Ile2385insTer)
NM_025114.4(CEP290):c.7220_7223del (p.Lys2407fs) rs763762899
NM_025114.4(CEP290):c.7283_7286dup (p.Tyr2429Ter)
NM_025114.4(CEP290):c.7323_7327AGAAG[1] (p.Glu2443fs)
NM_025114.4(CEP290):c.7323_7327AGAAG[3] (p.Val2445fs) rs747138345
NM_025114.4(CEP290):c.7341_7344dup (p.Ser2449fs)
NM_025114.4(CEP290):c.7341dup (p.Leu2448fs) rs281865189
NM_025114.4(CEP290):c.828del (p.Glu277fs) rs1555225566
NM_025114.4(CEP290):c.833_836dup (p.Asp279fs)
NM_153704.6(TMEM67):c.1046T>C (p.Leu349Ser) rs386834180
NM_153704.6(TMEM67):c.1115C>A (p.Thr372Lys) rs863225235
NM_153704.6(TMEM67):c.1373dup (p.Pro459fs) rs1586051330
NM_153704.6(TMEM67):c.1645C>T (p.Arg549Cys) rs747025617
NM_153704.6(TMEM67):c.1843T>C (p.Cys615Arg) rs201893408
NM_153704.6(TMEM67):c.2498T>C (p.Ile833Thr) rs267607119
NM_153704.6(TMEM67):c.579_580del (p.Gly195fs) rs386834202
NM_153704.6(TMEM67):c.622A>T (p.Arg208Ter) rs137853108
NM_153704.6(TMEM67):c.725A>G (p.Asn242Ser) rs775883520

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