ClinVar Miner

List of variants studied for Joubert syndrome by UW Hindbrain Malformation Research Program,University of Washington

Included ClinVar conditions (58):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 278
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HGVS dbSNP
2q13 deletion
NM_001044385.3(TMEM237):c.76C>T (p.Gln26Ter) rs387907131
NM_001044385.3(TMEM237):c.943+1G>T rs748510210
NM_001080522.2(CC2D2A):c.1017+1G>A rs200407856
NM_001080522.2(CC2D2A):c.1263_1264insGGCATGTTTTGGCAGCGA (p.Ser422_Arg423insGlyMetPheTrpGlnArg) rs762998472
NM_001080522.2(CC2D2A):c.1503_1505del (p.Lys501_Asp502delinsAsn) rs863225177
NM_001080522.2(CC2D2A):c.1558C>T (p.Arg520Ter) rs781252161
NM_001080522.2(CC2D2A):c.1676T>C (p.Leu559Pro) rs754221308
NM_001080522.2(CC2D2A):c.2624C>A (p.Ser875Ter) rs200904521
NM_001080522.2(CC2D2A):c.2671G>A (p.Glu891Lys) rs863225178
NM_001080522.2(CC2D2A):c.2848C>T (p.Arg950Ter) rs118204053
NM_001080522.2(CC2D2A):c.2999A>T (p.Glu1000Val) rs773881370
NM_001080522.2(CC2D2A):c.3055C>T (p.Arg1019Ter) rs370880399
NM_001080522.2(CC2D2A):c.3134T>C (p.Val1045Ala) rs863225173
NM_001080522.2(CC2D2A):c.3288G>C (p.Gln1096His) rs863225169
NM_001080522.2(CC2D2A):c.3289delG rs386833751
NM_001080522.2(CC2D2A):c.3341C>T (p.Thr1114Met) rs386833752
NM_001080522.2(CC2D2A):c.3347C>T (p.Thr1116Met) rs267606709
NM_001080522.2(CC2D2A):c.3364C>T (p.Pro1122Ser) rs118204051
NM_001080522.2(CC2D2A):c.3452T>C (p.Val1151Ala) rs863225170
NM_001080522.2(CC2D2A):c.3594+5G>A rs863225181
NM_001080522.2(CC2D2A):c.3596T>C (p.Ile1199Thr) rs760918829
NM_001080522.2(CC2D2A):c.3744_3747dup (p.Pro1250fs) rs863225171
NM_001080522.2(CC2D2A):c.3772-1G>T rs863225172
NM_001080522.2(CC2D2A):c.3774dup (p.Glu1259Ter) rs386833757
NM_001080522.2(CC2D2A):c.3850C>T (p.Arg1284Cys) rs779823379
NM_001080522.2(CC2D2A):c.3892_3893del (p.Val1298fs) rs763735590
NM_001080522.2(CC2D2A):c.3975+4_3975+7del rs386833759
NM_001080522.2(CC2D2A):c.3976-3C>A rs576298659
NM_001080522.2(CC2D2A):c.3989G>A (p.Arg1330Gln) rs763486732
NM_001080522.2(CC2D2A):c.4179+1del rs386833760
NM_001080522.2(CC2D2A):c.4226T>C (p.Ile1409Thr) rs863225176
NM_001080522.2(CC2D2A):c.4289T>C (p.Val1430Ala) rs863225168
NM_001080522.2(CC2D2A):c.4491A>C (p.Gln1497His) rs863225179
NM_001080522.2(CC2D2A):c.4582C>T (p.Arg1528Cys) rs118204052
NM_001080522.2(CC2D2A):c.4600T>G (p.Leu1534Val) rs778858648
NM_001080522.2(CC2D2A):c.4667A>T (p.Asp1556Val) rs201502401
NM_001080522.2(CC2D2A):c.4741A>G (p.Thr1581Ala) rs863225174
NM_001080522.2(CC2D2A):c.4842_4843CT[1] (p.Ser1615fs) rs863225175
NM_001082538.3(TCTN1):c.342-2A>G rs730882221
NM_001134831.2(AHI1):c.1052G>T (p.Arg351Leu) rs397514726
NM_001134831.2(AHI1):c.1115A>G (p.Asp372Gly) rs863225133
NM_001134831.2(AHI1):c.1152-2A>G rs753085250
NM_001134831.2(AHI1):c.1260G>A (p.Trp420Ter) rs863225143
NM_001134831.2(AHI1):c.1267C>T (p.Gln423Ter) rs777668842
NM_001134831.2(AHI1):c.1516C>T (p.Arg506Ter) rs371637724
NM_001134831.2(AHI1):c.1614del (p.Val539fs) rs863225141
NM_001134831.2(AHI1):c.1626+1G>A rs863225137
NM_001134831.2(AHI1):c.1626+4_1626+5insTTAC rs863225148
NM_001134831.2(AHI1):c.1897_1898dup (p.Tyr634fs) rs863225132
NM_001134831.2(AHI1):c.1917T>A (p.Tyr639Ter) rs764412921
NM_001134831.2(AHI1):c.1976A>T (p.Asp659Val) rs541041911
NM_001134831.2(AHI1):c.1997A>T (p.Asp666Val) rs863225147
NM_001134831.2(AHI1):c.2012C>T (p.Thr671Ile) rs772989270
NM_001134831.2(AHI1):c.2023G>A (p.Asp675Asn) rs863225145
NM_001134831.2(AHI1):c.2036+1G>T rs776093293
NM_001134831.2(AHI1):c.2098_2099dup (p.Tyr701fs) rs863225136
NM_001134831.2(AHI1):c.2156A>G (p.Asp719Gly) rs863225134
NM_001134831.2(AHI1):c.2168G>A (p.Arg723Gln) rs121434351
NM_001134831.2(AHI1):c.2172del (p.Trp725fs) rs755407014
NM_001134831.2(AHI1):c.2173T>C (p.Trp725Arg) rs863225144
NM_001134831.2(AHI1):c.2174G>A (p.Trp725Ter) rs587783013
NM_001134831.2(AHI1):c.2187_2196del (p.Met729fs) rs863225140
NM_001134831.2(AHI1):c.2212C>T (p.Arg738Ter) rs372659908
NM_001134831.2(AHI1):c.2297G>A (p.Gly766Glu) rs863225139
NM_001134831.2(AHI1):c.2361G>T (p.Trp787Cys) rs863225146
NM_001134831.2(AHI1):c.2495T>G (p.Leu832Ter) rs863225131
NM_001134831.2(AHI1):c.2687A>G (p.His896Arg) rs863225135
NM_001134831.2(AHI1):c.2705T>A (p.Val902Asp) rs368788993
NM_001134831.2(AHI1):c.662C>G (p.Ser221Ter) rs863225138
NM_001134831.2(AHI1):c.736A>T (p.Lys246Ter) rs863225142
NM_001134831.2(AHI1):c.910dup (p.Thr304fs) rs753874898
NM_001142301.1(TMEM67):c.2079+2dup rs386834192
NM_001142301.1(TMEM67):c.2079+5del rs863225240
NM_001142301.1(TMEM67):c.336_337del (p.Gly114fs) rs386834202
NM_001165927.1(MKS1):c.1085_1087del (p.Ser362del) rs754279998
NM_001165927.1(MKS1):c.1178C>T (p.Ser393Leu) rs773684291
NM_001165927.1(MKS1):c.1231C>T (p.Pro411Ser) rs863225210
NM_001165927.1(MKS1):c.1359G>T (p.Arg453=) rs773269657
NM_001165927.1(MKS1):c.1498dup (p.Arg500fs) rs863225204
NM_001165927.1(MKS1):c.1559-2A>T rs863225207
NM_001165927.1(MKS1):c.232-179_232-37del rs1555600644
NM_001165927.1(MKS1):c.351del (p.Tyr118fs) rs863225206
NM_001165927.1(MKS1):c.387G>A (p.Glu129=) rs386834048
NM_001165927.1(MKS1):c.463C>T (p.Arg155Cys) rs779953982
NM_001165927.1(MKS1):c.50+286G>T rs863225205
NM_001165927.1(MKS1):c.737_738insC (p.Glu246fs) rs863225209
NM_001165927.1(MKS1):c.920G>A (p.Gly307Glu) rs863225208
NM_001173990.3(TMEM216):c.216T>C (p.Ile72=) rs541666319
NM_001173990.3(TMEM216):c.217C>T (p.Arg73Cys) rs779526456
NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu) rs201108965
NM_001173990.3(TMEM216):c.253C>T (p.Arg85Ter) rs11230683
NM_001173990.3(TMEM216):c.398T>G (p.Leu133Ter) rs755459875
NM_001174150.2(ARL13B):c.246G>A (p.Trp82Ter) rs121912607
NM_001174150.2(ARL13B):c.461A>G (p.Asn154Ser) rs758972393
NM_001174150.2(ARL13B):c.598C>T (p.Arg200Cys) rs121912608
NM_001174150.2(ARL13B):c.65T>G (p.Val22Gly) rs863225149
NM_001286577.1(C2CD3):c.184C>T (p.Arg62Ter) rs587777653
NM_001286577.1(C2CD3):c.4951+1G>T rs863225151
NM_001286577.1(C2CD3):c.5267G>A (p.Gly1756Glu) rs150291837
NM_001329943.3(KIAA0586):c.1000C>T (p.Gln334Ter) rs796052128
NM_001329943.3(KIAA0586):c.1254-1G>C rs757350052
NM_001329943.3(KIAA0586):c.1271_1274delinsGA (p.Glu424fs) rs869312856
NM_001329943.3(KIAA0586):c.1538A>T (p.Asp513Val) rs796052129
NM_001329943.3(KIAA0586):c.1571_1575del (p.Leu524fs) rs863225203
NM_001329943.3(KIAA0586):c.3144G>A (p.Pro1048=) rs540255320
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) rs534542684
NM_001329943.3(KIAA0586):c.643C>T (p.Gln215Ter) rs201097695
NM_001329943.3(KIAA0586):c.704_705del (p.Gln235fs) rs770566897
NM_003611.3(OFD1):c.149A>G (p.His50Arg) rs863225213
NM_003611.3(OFD1):c.2668C>T (p.Arg890Ter) rs863225212
NM_003611.3(OFD1):c.2767del (p.Glu923fs) rs312262894
NM_003611.3(OFD1):c.277G>T (p.Val93Phe) rs863225211
NM_006346.4(PIBF1):c.1214G>A (p.Arg405Gln) rs17089782
NM_006346.4(PIBF1):c.1669del (p.Leu557fs) rs863225214
NM_015272.5(RPGRIP1L):c.1132del (p.Trp378fs) rs863225217
NM_015272.5(RPGRIP1L):c.1243+1G>A rs863225218
NM_015272.5(RPGRIP1L):c.1709dup (p.Asp571fs) rs778149316
NM_015272.5(RPGRIP1L):c.1721del (p.Tyr574fs) rs863225216
NM_015272.5(RPGRIP1L):c.1843A>C (p.Thr615Pro) rs121918198
NM_015272.5(RPGRIP1L):c.1975T>C (p.Ser659Pro) rs267607020
NM_015272.5(RPGRIP1L):c.2050C>T (p.Gln684Ter) rs121918204
NM_015272.5(RPGRIP1L):c.2305-1G>A rs863225215
NM_015272.5(RPGRIP1L):c.2413C>T (p.Arg805Ter) rs145665129
NM_015272.5(RPGRIP1L):c.3529C>T (p.Arg1177Ter) rs778533826
NM_015272.5(RPGRIP1L):c.3701+1G>T rs863225219
NM_015631.6(TCTN3):c.3G>A (p.Met1Ile) rs745688122
NM_015662.3(IFT172):c.4630C>T (p.Arg1544Cys) rs587777079
NM_015681.5(B9D1):c.285C>A (p.Phe95Leu) rs373478202
NM_015681.5(B9D1):c.466C>T (p.Arg156Trp) rs369488112
NM_015681.5(B9D1):c.95A>G (p.Tyr32Cys) rs771170000
NM_016464.5(TMEM138):c.380C>T (p.Ala127Val) rs387907133
NM_019892.6(INPP5E):c.1021G>A (p.Gly341Ser) rs780882740
NM_019892.6(INPP5E):c.1064C>T (p.Thr355Met) rs863225198
NM_019892.6(INPP5E):c.1154G>A (p.Cys385Tyr) rs863225200
NM_019892.6(INPP5E):c.1162G>T (p.Val388Leu) rs863225201
NM_019892.6(INPP5E):c.1249T>C (p.Ser417Pro) rs863225202
NM_019892.6(INPP5E):c.1304G>A (p.Arg435Gln) rs121918129
NM_019892.6(INPP5E):c.1468G>T (p.Asp490Tyr) rs757222534
NM_019892.6(INPP5E):c.1577C>T (p.Pro526Leu) rs746867724
NM_019892.6(INPP5E):c.1684A>G (p.Ser562Gly) rs863225197
NM_019892.6(INPP5E):c.1754G>A (p.Arg585His) rs752300607
NM_019892.6(INPP5E):c.1760del (p.Val587fs) rs775518991
NM_019892.6(INPP5E):c.1897_1898del (p.Gln633fs) rs863225199
NM_019892.6(INPP5E):c.907G>A (p.Val303Met) rs746212325
NM_019892.6(INPP5E):c.944C>T (p.Pro315Leu) rs754637179
NM_023073.3(CPLANE1):c.1784T>G (p.Leu595Ter) rs530569572
NM_023073.3(CPLANE1):c.1819del (p.Tyr607fs) rs777686211
NM_023073.3(CPLANE1):c.2275C>T (p.Gln759Ter) rs863225158
NM_023073.3(CPLANE1):c.2353C>T (p.Arg785Ter) rs863225163
NM_023073.3(CPLANE1):c.2377C>T (p.Gln793Ter) rs776886962
NM_023073.3(CPLANE1):c.2611C>T (p.Arg871Cys) rs760906097
NM_023073.3(CPLANE1):c.2709G>A (p.Trp903Ter) rs863225164
NM_023073.3(CPLANE1):c.2831G>A (p.Arg944His) rs863225165
NM_023073.3(CPLANE1):c.2923C>T (p.Gln975Ter) rs863225166
NM_023073.3(CPLANE1):c.2999G>T (p.Trp1000Leu) rs773362418
NM_023073.3(CPLANE1):c.3007G>T (p.Glu1003Ter) rs863225162
NM_023073.3(CPLANE1):c.3130_3131insA (p.Arg1044fs) rs863225161
NM_023073.3(CPLANE1):c.3599C>T (p.Ala1200Val) rs141153181
NM_023073.3(CPLANE1):c.3632_3633AT[2] (p.Leu1213fs) rs863225157
NM_023073.3(CPLANE1):c.3828T>C (p.Leu1276=) rs145520487
NM_023073.3(CPLANE1):c.4006C>T (p.Arg1336Trp) rs367543061
NM_023073.3(CPLANE1):c.424G>A (p.Glu142Lys) rs756856188
NM_023073.3(CPLANE1):c.493del (p.Ile165fs) rs606231259
NM_023073.3(CPLANE1):c.510del (p.Leu171fs) rs779680371
NM_023073.3(CPLANE1):c.510dup (p.Leu171fs) rs779680371
NM_023073.3(CPLANE1):c.6267_6268TG[1] (p.Val2090fs) rs768675259
NM_023073.3(CPLANE1):c.7190del (p.Pro2397fs) rs863225156
NM_023073.3(CPLANE1):c.7477C>T (p.Arg2493Ter) rs139675596
NM_023073.3(CPLANE1):c.7778G>A (p.Trp2593Ter) rs863225159
NM_023073.3(CPLANE1):c.7817T>A (p.Leu2606Ter) rs749523755
NM_023073.3(CPLANE1):c.7978C>T (p.Arg2660Ter) rs147416429
NM_023073.3(CPLANE1):c.7988_7989del (p.Gly2663fs) rs730882217
NM_023073.3(CPLANE1):c.8167C>T (p.Gln2723Ter) rs863225152
NM_023073.3(CPLANE1):c.817A>C (p.Asn273His) rs863225167
NM_023073.3(CPLANE1):c.8263_8264insG (p.Thr2755fs) rs1554064102
NM_023073.3(CPLANE1):c.8263dup (p.Thr2755fs) rs775263897
NM_023073.3(CPLANE1):c.8608G>T (p.Glu2870Ter) rs863225155
NM_023073.3(CPLANE1):c.8710C>T (p.Arg2904Ter) rs141507441
NM_023073.3(CPLANE1):c.8716G>T (p.Glu2906Ter) rs863225153
NM_023073.3(CPLANE1):c.8725del (p.Ala2909fs) rs770758833
NM_023073.3(CPLANE1):c.8855+1G>A rs863225154
NM_023073.3(CPLANE1):c.8855+1G>T rs863225154
NM_023073.3(CPLANE1):c.9058C>T (p.Arg3020Ter) rs374144275
NM_023073.3(CPLANE1):c.968C>T (p.Thr323Met) rs373704405
NM_024790.6(CSPP1):c.1132C>T (p.Arg378Ter) rs374703898
NM_024790.6(CSPP1):c.1682+1G>T rs863225193
NM_024790.6(CSPP1):c.2244_2245del (p.Glu750fs) rs587777139
NM_024790.6(CSPP1):c.2260C>T (p.Arg754Ter) rs771203308
NM_024790.6(CSPP1):c.2280del (p.Glu761fs) rs587777140
NM_024790.6(CSPP1):c.2433_2436AGAA[2] (p.Lys814fs) rs761382780
NM_024790.6(CSPP1):c.2441_2447AGAAGAA[1] (p.Glu817fs) rs863225191
NM_024790.6(CSPP1):c.2441_2447AGAAGAA[3] (p.Glu819fs) rs863225191
NM_024790.6(CSPP1):c.2527_2528del (p.Met843fs) rs587777143
NM_024790.6(CSPP1):c.2708del (p.Asn903fs) rs863225190
NM_024790.6(CSPP1):c.2953+1G>A rs587777142
NM_024790.6(CSPP1):c.3205+1G>A rs773954226
NM_024790.6(CSPP1):c.3212dup (p.Tyr1071Ter) rs587777141
NM_024790.6(CSPP1):c.363_364del (p.His121fs) rs1554562278
NM_024790.6(CSPP1):c.457del (p.Arg153fs) rs863225192
NM_024790.6(CSPP1):c.658C>T (p.Arg220Ter) rs375113643
NM_024790.6(CSPP1):c.950+1G>C rs863225194
NM_024809.5(TCTN2):c.1117G>A (p.Gly373Arg) rs187433682
NM_024809.5(TCTN2):c.1291G>T (p.Glu431Ter) rs863225221
NM_024809.5(TCTN2):c.1626del (p.Asp543fs) rs863225220
NM_024809.5(TCTN2):c.1751T>A (p.Ile584Lys) rs201010803
NM_024809.5(TCTN2):c.613G>T (p.Gly205Cys) rs201827132
NM_024809.5(TCTN2):c.76del (p.Asp26fs) rs863225222
NM_024809.5(TCTN2):c.76dup (p.Asp26fs) rs863225222
NM_025114.3(CEP290):c.103-1G>T rs863225188
NM_025114.3(CEP290):c.1219_1220delAT (p.Met407Glufs) rs386834148
NM_025114.3(CEP290):c.1623+1G>A rs863225186
NM_025114.3(CEP290):c.164_167delCTCA (p.Thr55Serfs) rs758550675
NM_025114.3(CEP290):c.1666delA (p.Ile556Phefs) rs727503855
NM_025114.3(CEP290):c.1666dupA (p.Ile556Asnfs) rs727503855
NM_025114.3(CEP290):c.1984C>T (p.Gln662Ter) rs386834152
NM_025114.3(CEP290):c.2112delA (p.Val705Leufs) rs863225183
NM_025114.3(CEP290):c.21G>T (p.Trp7Cys) rs62635288
NM_025114.3(CEP290):c.2343T>C (p.Asn781=) rs748034744
NM_025114.3(CEP290):c.3175dupA (p.Ile1059Asnfs) rs62640570
NM_025114.3(CEP290):c.3176delT (p.Ile1059Lysfs) rs863225184
NM_025114.3(CEP290):c.3185delT (p.Leu1062Argfs) rs863225189
NM_025114.3(CEP290):c.3904C>T (p.Gln1302Ter) rs587783016
NM_025114.3(CEP290):c.4384delG (p.Glu1462Argfs) rs863225182
NM_025114.3(CEP290):c.4393C>T (p.Arg1465Ter) rs539400286
NM_025114.3(CEP290):c.4452_4455delAGAA (p.Lys1484Asnfs) rs780624853
NM_025114.3(CEP290):c.4522C>T (p.Arg1508Ter) rs749439750
NM_025114.3(CEP290):c.4723A>T (p.Lys1575Ter) rs137852834
NM_025114.3(CEP290):c.4882C>T (p.Gln1628Ter) rs376493409
NM_025114.3(CEP290):c.4966_4967delGA (p.Glu1656Asnfs) rs756302731
NM_025114.3(CEP290):c.5344C>T (p.Arg1782Ter) rs575767207
NM_025114.3(CEP290):c.5611_5614delCAAA (p.Gln1871Valfs) rs727503853
NM_025114.3(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832
NM_025114.3(CEP290):c.5704G>T (p.Glu1902Ter) rs267606719
NM_025114.3(CEP290):c.5932C>T (p.Arg1978Ter) rs371525247
NM_025114.3(CEP290):c.6072C>A (p.Tyr2024Ter) rs779262951
NM_025114.3(CEP290):c.6277delG (p.Val2093Serfs) rs771454167
NM_025114.3(CEP290):c.654T>G (p.Tyr218Ter) rs863225185
NM_025114.3(CEP290):c.6939C>A (p.Tyr2313Ter) rs863225187
NM_030578.4(B9D2):c.107T>C (p.Leu36Pro) rs757863670
NM_030578.4(B9D2):c.220C>T (p.Pro74Ser) rs863225150
NM_030578.4(B9D2):c.463G>A (p.Gly155Ser) rs750436680
NM_153704.5(TMEM67):c.1046T>C (p.Leu349Ser) rs386834180
NM_153704.5(TMEM67):c.1073C>T (p.Pro358Leu) rs863225232
NM_153704.5(TMEM67):c.1081G>T (p.Glu361Ter) rs863225237
NM_153704.5(TMEM67):c.1115C>A (p.Thr372Lys) rs863225235
NM_153704.5(TMEM67):c.1126C>G (p.Gln376Glu) rs863225231
NM_153704.5(TMEM67):c.1321C>T (p.Arg441Cys) rs752362727
NM_153704.5(TMEM67):c.1351C>T (p.Arg451Ter) rs116647652
NM_153704.5(TMEM67):c.1453C>T (p.Pro485Ser) rs863225228
NM_153704.5(TMEM67):c.1538A>G (p.Tyr513Cys) rs137853107
NM_153704.5(TMEM67):c.1674+3A>G rs863225224
NM_153704.5(TMEM67):c.1769T>C (p.Phe590Ser) rs267607115
NM_153704.5(TMEM67):c.1843T>C (p.Cys615Arg) rs201893408
NM_153704.5(TMEM67):c.1911C>A (p.Phe637Leu) rs863225225
NM_153704.5(TMEM67):c.1961-2A>C rs758948621
NM_153704.5(TMEM67):c.2086C>T (p.Leu696Phe) rs863225238
NM_153704.5(TMEM67):c.2290C>T (p.Arg764Ter) rs751517725
NM_153704.5(TMEM67):c.2368C>A (p.His790Asn) rs863225230
NM_153704.5(TMEM67):c.244C>T (p.Pro82Ser) rs762543032
NM_153704.5(TMEM67):c.245C>G (p.Pro82Arg) rs772437766
NM_153704.5(TMEM67):c.2498T>C (p.Ile833Thr) rs267607119
NM_153704.5(TMEM67):c.2522A>C (p.Gln841Pro) rs863225234
NM_153704.5(TMEM67):c.2556+1G>T rs786200867
NM_153704.5(TMEM67):c.2661+5G>A rs863225239
NM_153704.5(TMEM67):c.2801G>A (p.Gly934Glu) rs863225236
NM_153704.5(TMEM67):c.2825T>G (p.Phe942Cys) rs863225233
NM_153704.5(TMEM67):c.297G>T (p.Lys99Asn) rs797046045
NM_153704.5(TMEM67):c.300C>A (p.Cys100Ter) rs751309268
NM_153704.5(TMEM67):c.389C>G (p.Pro130Arg) rs863225226
NM_153704.5(TMEM67):c.515G>A (p.Arg172Gln) rs750950408
NM_153704.5(TMEM67):c.622A>T (p.Arg208Ter) rs137853108
NM_153704.5(TMEM67):c.675G>A (p.Trp225Ter) rs386834205
NM_153704.5(TMEM67):c.725A>G (p.Asn242Ser) rs775883520
NM_153704.5(TMEM67):c.730A>G (p.Thr244Ala) rs863225229
NM_153704.5(TMEM67):c.755T>C (p.Met252Thr) rs202149403
NM_153704.5(TMEM67):c.769A>G (p.Met257Val) rs863225227
NM_153704.5(TMEM67):c.978+3A>G rs775256658

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