ClinVar Miner

List of variants reported as pathogenic for autosomal recessive congenital cerebellar ataxia by OMIM

Included ClinVar conditions (52):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 109
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter) rs137852834 0.00009
NM_153704.6(TMEM67):c.2498T>C (p.Ile833Thr) rs267607119 0.00009
NM_001163809.2(WDR81):c.2567C>T (p.Pro856Leu) rs587776906 0.00007
NM_018294.6(CWF19L1):c.964+1G>A rs587780326 0.00007
NM_001044385.3(TMEM237):c.52C>T (p.Arg18Ter) rs199469707 0.00006
NM_001378615.1(CC2D2A):c.3347C>T (p.Thr1116Met) rs267606709 0.00006
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832 0.00006
NM_001077418.3(TMEM231):c.625G>A (p.Asp209Asn) rs200799769 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_015272.5(RPGRIP1L):c.1843A>C (p.Thr615Pro) rs121918198 0.00004
NM_015272.5(RPGRIP1L):c.697A>T (p.Lys233Ter) rs121918197 0.00004
NM_001077416.2(TMEM231):c.74T>A (p.Met25Lys) rs397514609 0.00003
NM_001134831.2(AHI1):c.2168G>A (p.Arg723Gln) rs121434351 0.00003
NM_001044385.3(TMEM237):c.943+1G>T rs748510210 0.00002
NM_015272.5(RPGRIP1L):c.2050C>T (p.Gln684Ter) rs121918204 0.00002
NM_032856.5(WDR73):c.703C>T (p.Gln235Ter) rs797044992 0.00002
NM_001134831.2(AHI1):c.1484G>A (p.Arg495His) rs387907003 0.00001
NM_001134831.2(AHI1):c.1765C>T (p.Arg589Ter) rs267606641 0.00001
NM_001134831.2(AHI1):c.985C>T (p.Arg329Ter) rs201391050 0.00001
NM_001163809.2(WDR81):c.3997C>T (p.Arg1333Ter) rs138358708 0.00001
NM_001329943.3(KIAA0586):c.1656G>A (p.Gln552=) rs762081862 0.00001
NM_001378615.1(CC2D2A):c.2848C>T (p.Arg950Ter) rs118204053 0.00001
NM_001378615.1(CC2D2A):c.4582C>T (p.Arg1528Cys) rs118204052 0.00001
NM_004056.6(CA8):c.710G>A (p.Arg237Gln) rs387906598 0.00001
NM_015160.3(PMPCA):c.1543G>A (p.Gly515Arg) rs869025293 0.00001
NM_015160.3(PMPCA):c.766G>A (p.Val256Met) rs746549806 0.00001
NM_015272.5(RPGRIP1L):c.2413C>T (p.Arg805Ter) rs145665129 0.00001
NM_016464.5(TMEM138):c.128+5G>A rs917404097 0.00001
NM_016529.6(ATP8A2):c.1741C>T (p.Arg581Ter) rs1304109530 0.00001
NM_153704.6(TMEM67):c.1769T>C (p.Phe590Ser) rs267607115 0.00001
NM_153704.6(TMEM67):c.312+5G>A rs786200868 0.00001
NG_012741.1:g.(?_5001)_(37693_?)del
NM_000272.5(NPHP1):c.(?_-45)_(*443_?)del
NM_001044385.3(TMEM237):c.1066dup (p.Gln356fs) rs751952525
NM_001044385.3(TMEM237):c.677+1G>T rs793888505
NM_001044385.3(TMEM237):c.76C>T (p.Gln26Ter) rs387907131
NM_001080522.2(CC2D2A):c.3289delG rs386833751
NM_001134831.2(AHI1):c.1051C>T (p.Arg351Ter) rs121434348
NM_001134831.2(AHI1):c.1052G>T (p.Arg351Leu) rs397514726
NM_001134831.2(AHI1):c.1303C>T (p.Arg435Ter) rs121434349
NM_001134831.2(AHI1):c.1328T>A (p.Val443Asp) rs121434350
NM_001134831.2(AHI1):c.2282C>T (p.Ser761Leu) rs794727174
NM_001134831.2(AHI1):c.2368_2369insT (p.Asn790fs) rs387906270
NM_001173990.3(TMEM216):c.218G>A (p.Arg73His) rs201108965
NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu) rs201108965
NM_001329943.3(KIAA0586):c.194C>G (p.Ser65Ter) rs797045119
NM_001378615.1(CC2D2A):c.2338+1G>C rs2109050324
NM_001378615.1(CC2D2A):c.3145C>T (p.Arg1049Ter) rs386833750
NM_001378615.1(CC2D2A):c.3364C>T (p.Pro1122Ser) rs118204051
NM_001382391.1(CSPP1):c.2259_2260del (p.Glu755fs) rs587777139
NM_001382391.1(CSPP1):c.2259_2262del (p.Glu755fs) rs587777145
NM_001382391.1(CSPP1):c.2295del (p.Glu766fs) rs587777140
NM_001382391.1(CSPP1):c.2542_2543del (p.Met848fs) rs587777143
NM_001382391.1(CSPP1):c.255_256del (p.His85fs) rs1554562278
NM_001382391.1(CSPP1):c.2788C>T (p.Arg930Ter) rs537456518
NM_001382391.1(CSPP1):c.2968+1G>A rs587777142
NM_001382391.1(CSPP1):c.3227dup (p.Tyr1076Ter) rs587777141
NM_001382391.1(CSPP1):c.625C>T (p.Gln209Ter) rs587777146
NM_003383.5(VLDLR):c.1249_1255del (p.Tyr417fs) rs398122380
NM_003383.5(VLDLR):c.1342C>T (p.Arg448Ter) rs80338905
NM_003383.5(VLDLR):c.149G>A (p.Trp50Ter)
NM_003383.5(VLDLR):c.1724G>A (p.Trp575Ter)
NM_003383.5(VLDLR):c.1961A>G (p.Glu654Gly)
NM_003383.5(VLDLR):c.2117G>T (p.Cys706Phe) rs397514750
NM_003383.5(VLDLR):c.2339del (p.Ile780fs) rs80338906
NM_003383.5(VLDLR):c.769C>T (p.Arg257Ter) rs80338907
NM_003383.5(VLDLR):c.820+1G>A
NM_003383.5(VLDLR):c.901C>T (p.Arg301Ter)
NM_004056.6(CA8):c.298T>C (p.Ser100Pro) rs267606695
NM_015160.3(PMPCA):c.1129G>A (p.Ala377Thr) rs753611141
NM_015160.3(PMPCA):c.287C>T (p.Ser96Leu) rs869025292
NM_015272.5(RPGRIP1L):c.1721del (p.Tyr574fs) rs863225216
NM_015272.5(RPGRIP1L):c.1975T>C (p.Ser659Pro) rs267607020
NM_015272.5(RPGRIP1L):c.2083G>C (p.Ala695Pro) rs121918200
NM_015272.5(RPGRIP1L):c.2269del (p.Thr757fs) rs387906243
NM_015272.5(RPGRIP1L):c.757C>T (p.Gln253Ter) rs121918199
NM_016464.5(TMEM138):c.287A>G (p.His96Arg) rs387907132
NM_016464.5(TMEM138):c.376G>A (p.Ala126Thr) rs387907134
NM_016464.5(TMEM138):c.380C>T (p.Ala127Val) rs387907133
NM_016464.5(TMEM138):c.389A>G (p.Tyr130Cys) rs387907135
NM_016529.6(ATP8A2):c.1128C>G (p.Ile376Met) rs546968533
NM_016529.6(ATP8A2):c.1339G>A (p.Gly447Arg)
NM_016529.6(ATP8A2):c.1580-18C>G
NM_016529.6(ATP8A2):c.2158C>T (p.Arg720Ter) rs1566306570
NM_017777.4(MKS1):c.1115_1117del (p.Ser372del) rs754279998
NM_017777.4(MKS1):c.1491-2A>G rs886038203
NM_017777.4(MKS1):c.1588+1G>T rs886038204
NM_018294.6(CWF19L1):c.467del (p.Pro156fs) rs879255654
NM_018294.6(CWF19L1):c.946A>T (p.Lys316Ter) rs879255653
NM_018718.3(CEP41):c.33+2T>G rs1584916464
NM_018718.3(CEP41):c.423-2A>C rs781815473
NM_018718.3(CEP41):c.83C>A (p.Ser28Ter) rs1584901211
NM_018718.3(CEP41):c.97+3_97+5del rs2117674119
NM_025114.4(CEP290):c.21G>T (p.Trp7Cys) rs62635288
NM_025114.4(CEP290):c.4656del (p.Glu1553fs) rs62640572
NM_032856.5(WDR73):c.1039C>T (p.His347Tyr) rs754099015
NM_032856.5(WDR73):c.129T>G (p.Tyr43Ter) rs727502863
NM_032856.5(WDR73):c.287G>A (p.Arg96Lys) rs797044995
NM_032856.5(WDR73):c.400_401del (p.Trp136fs) rs767086146
NM_032856.5(WDR73):c.68T>A (p.Leu23Gln) rs797044993
NM_032856.5(WDR73):c.766dup (p.Arg256fs) rs727502864
NM_032856.5(WDR73):c.888del (p.Phe296fs) rs869320712
NM_032856.5(WDR73):c.940C>T (p.Gln314Ter) rs797044994
NM_033064.5(ATCAY):c.602_608del (p.Asp201fs) rs2145248615
NM_033064.5(ATCAY):c.[903C>G;965+3G>T]
NM_153704.6(TMEM67):c.1538A>G (p.Tyr513Cys) rs137853107
NM_153704.6(TMEM67):c.1961-2A>C rs758948621
NM_153704.6(TMEM67):c.2556+1G>T rs786200867

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.