ClinVar Miner

List of variants reported as likely pathogenic for cerebellar disorder by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (274):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 158
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HGVS dbSNP gnomAD frequency
NM_001128178.3(NPHP1):c.771+169G>T rs150520157 0.00027
NM_001384732.1(CPLANE1):c.9220C>T (p.Arg3074Ter) rs374144275 0.00019
NM_001384732.1(CPLANE1):c.424G>A (p.Glu142Lys) rs756856188 0.00014
NM_014704.4(CEP104):c.1003C>T (p.Gln335Ter) rs144744629 0.00011
NM_015631.6(TCTN3):c.2T>G (p.Met1Arg) rs373479905 0.00011
NM_000370.3(TTPA):c.358G>A (p.Ala120Thr) rs143010236 0.00008
NM_014363.6(SACS):c.9404T>C (p.Leu3135Ser) rs371019314 0.00006
NM_001082538.3(TCTN1):c.712+1G>A rs200863258 0.00004
NM_001386140.1(MTTP):c.1618C>T (p.Arg540Cys) rs372321643 0.00004
NM_015272.5(RPGRIP1L):c.2200C>T (p.Arg734Ter) rs751128300 0.00004
NM_001173990.3(TMEM216):c.398T>G (p.Leu133Ter) rs755459875 0.00003
NM_001174150.2(ARL13B):c.1252C>T (p.Arg418Ter) rs779260568 0.00003
NM_014363.6(SACS):c.9508C>T (p.Arg3170Ter) rs202199411 0.00003
NM_014875.3(KIF14):c.3661+1G>T rs151249558 0.00003
NM_015272.5(RPGRIP1L):c.2874+1G>C rs753075262 0.00003
NM_153704.6(TMEM67):c.651+2T>G rs199821258 0.00003
NM_001044385.3(TMEM237):c.553+1G>A rs80034299 0.00002
NM_019892.6(INPP5E):c.1753C>T (p.Arg585Cys) rs763992407 0.00002
NM_024809.5(TCTN2):c.703del (p.Leu235fs) rs760830696 0.00002
NM_153240.5(NPHP3):c.2369T>C (p.Leu790Pro) rs398124546 0.00002
NM_000370.3(TTPA):c.421G>A (p.Glu141Lys) rs397515524 0.00001
NM_000784.4(CYP27A1):c.1415G>C (p.Gly472Ala) rs200883871 0.00001
NM_000784.4(CYP27A1):c.1537C>T (p.Arg513Cys) rs560108684 0.00001
NM_001128178.3(NPHP1):c.329+1G>A rs376974221 0.00001
NM_001134831.2(AHI1):c.2105C>T (p.Thr702Met) rs756276537 0.00001
NM_001163809.2(WDR81):c.1358dup (p.Tyr453Ter) rs1194329020 0.00001
NM_001384732.1(CPLANE1):c.247G>T (p.Gly83Ter) rs1554117456 0.00001
NM_001386140.1(MTTP):c.1949del (p.Ile650fs) rs1725952378 0.00001
NM_014363.6(SACS):c.1607C>T (p.Pro536Leu) rs1440541889 0.00001
NM_014363.6(SACS):c.7273C>T (p.Arg2425Ter) rs145766983 0.00001
NM_015272.5(RPGRIP1L):c.1804C>T (p.Arg602Ter) rs745413543 0.00001
NM_015272.5(RPGRIP1L):c.196C>T (p.Gln66Ter) rs751444506 0.00001
NM_015272.5(RPGRIP1L):c.751C>T (p.Arg251Ter) rs993394322 0.00001
NM_015681.6(B9D1):c.341G>A (p.Arg114Gln) rs778260923 0.00001
NM_024809.5(TCTN2):c.1751T>A (p.Ile584Lys) rs201010803 0.00001
NM_153240.5(NPHP3):c.3111C>G (p.Tyr1037Ter) rs1007848349 0.00001
NC_000002.11:g.(?_110880912)_(110886837_110889255)del
NC_000003.11:g.(132438675_132440806)_132441126del
NC_000003.11:g.(43474220_43591211)_(43602895_43607144)del
NC_000003.11:g.(43640159_43641875)_(43647356_43663400)del
NC_000003.11:g.93714775_(93722753_93754174)del
NC_000004.11:g.(100521891_100522763)_(100534298_100540130)del
NC_000004.11:g.(93511438_94006145)_(94006431_94031898)del
NC_000005.9:g.(37108574_37115061)_(37196099_37198803)dup
NC_000006.11:g.(135754395_135759512)_(135759637_135763719)del
NC_000006.11:g.(86251762_86252899)_(86259598_86267693)dup
NC_000011.9:g.(61131991_61133516)_(61133689_61135394)del
NC_000012.11:g.(111052208_111057640)_(111057762_111064166)del
NC_000012.11:g.(124163837_124171382)_(124181746_124184250)del
NC_000012.11:g.(124189236_124191272)_(124192951_?)del
NC_000012.11:g.(?_124155659)_(124184358_124189078)del
NC_000016.9:g.(53636101_53639392)_(53698922_53705421)del
NM_000144.5(FXN):c.483-12_483del
NM_000370.3(TTPA):c.339del (p.Val114fs) rs1563363293
NM_000784.4(CYP27A1):c.108del (p.Ser37fs)
NM_000784.4(CYP27A1):c.1126del (p.Gln376fs)
NM_000784.4(CYP27A1):c.379C>G (p.Arg127Gly)
NM_000784.4(CYP27A1):c.586_587del (p.Ser196fs) rs758739930
NM_000784.4(CYP27A1):c.58del (p.Leu20fs) rs2106479076
NM_001020658.2(PUM1):c.1773del (p.Ser592fs) rs1640658015
NM_001044385.3(TMEM237):c.636G>A (p.Trp212Ter) rs2105899200
NM_001044385.3(TMEM237):c.725G>A (p.Trp242Ter)
NM_001077418.3(TMEM231):c.248G>A (p.Trp83Ter) rs2080804101
NM_001077418.3(TMEM231):c.279dup (p.Gly94fs)
NM_001077418.3(TMEM231):c.438+1G>C rs1415483600
NM_001077418.3(TMEM231):c.815A>C (p.Gln272Pro) rs397514754
NM_001082538.3(TCTN1):c.1284del (p.Thr429fs) rs1566003392
NM_001082538.3(TCTN1):c.1494+2T>C
NM_001128178.3(NPHP1):c.1083+1G>A
NM_001128178.3(NPHP1):c.144-1G>A
NM_001134831.2(AHI1):c.1671del (p.Gly558fs) rs2128056526
NM_001134831.2(AHI1):c.1985G>A (p.Trp662Ter)
NM_001134831.2(AHI1):c.2388_2389del (p.Glu797fs)
NM_001134831.2(AHI1):c.2495T>G (p.Leu832Ter) rs863225131
NM_001134831.2(AHI1):c.3426+2T>C
NM_001134831.2(AHI1):c.917del (p.Lys306fs) rs1181159671
NM_001173976.2(TCTN1):c.1011-2_1012del
NM_001174150.2(ARL13B):c.246del (p.Ile81_Trp82insTer)
NM_001174150.2(ARL13B):c.59+1G>A
NM_001174150.2(ARL13B):c.598C>T (p.Arg200Cys) rs121912608
NM_001174150.2(ARL13B):c.801del (p.Asn267fs)
NM_001174150.2(ARL13B):c.830dup (p.Asn277fs) rs752472169
NM_001174150.2(ARL13B):c.976C>T (p.Gln326Ter)
NM_001244189.1(KIAA0586):c.2602_2612del11
NM_001329943.3(KIAA0586):c.1362+2T>C rs901508284
NM_001378452.1(ITPR1):c.742_744del (p.Glu248del) rs1559603328
NM_001378615.1(CC2D2A):c.2999_3000inv (p.Glu1000Val)
NM_001378969.1(KCND3):c.848C>G (p.Ser283Cys)
NM_001384732.1(CPLANE1):c.1122-2A>G
NM_001384732.1(CPLANE1):c.2020C>T (p.Gln674Ter)
NM_001384732.1(CPLANE1):c.2490_2494del (p.Lys830fs) rs926409425
NM_001384732.1(CPLANE1):c.3056_3059dup (p.Trp1020fs)
NM_001384732.1(CPLANE1):c.5167C>T (p.Gln1723Ter)
NM_001384732.1(CPLANE1):c.7234-2_7234del
NM_001384732.1(CPLANE1):c.8471del (p.Phe2823_Leu2824insTer)
NM_001386140.1(MTTP):c.307A>T (p.Lys103Ter) rs1560614646
NM_003047.5(SLC9A1):c.1048_1052dup (p.Gly352fs) rs1221107969
NM_003383.5(VLDLR):c.2252-2A>C
NM_003383.5(VLDLR):c.325+1G>A
NM_004115.4(FGF14):c.408+1G>A
NM_006796.3(AFG3L2):c.1875G>A (p.Met625Ile) rs727502823
NM_006946.4(SPTBN2):c.1309C>T (p.Arg437Trp) rs1941669517
NM_014363.6(SACS):c.10103_10104insTATAGATT (p.Met3368fs) rs2137577962
NM_014363.6(SACS):c.10466_10467del (p.Ser3489fs) rs786204416
NM_014363.6(SACS):c.11136del (p.Pro3713_Leu3714insTer) rs2137569225
NM_014363.6(SACS):c.11274_11276del (p.Ile3758_Thr3759delinsMet)
NM_014363.6(SACS):c.1276_1277dup (p.Leu426fs) rs1057516406
NM_014363.6(SACS):c.4095G>A (p.Trp1365Ter) rs1057516779
NM_014363.6(SACS):c.4957G>T (p.Glu1653Ter)
NM_014363.6(SACS):c.5008_5010delinsGTAGATGAATATCTACAATTGTGGATTGTATTTAG (p.Tyr1670fs)
NM_014363.6(SACS):c.520G>T (p.Glu174Ter) rs2137742889
NM_014363.6(SACS):c.5296G>T (p.Glu1766Ter)
NM_014363.6(SACS):c.6172del (p.Ser2058fs) rs1214399996
NM_014363.6(SACS):c.8790_8793del (p.Lys2930fs)
NM_014363.6(SACS):c.9653T>G (p.Leu3218Ter) rs2137582138
NM_014363.6(SACS):c.9670C>T (p.Arg3224Ter) rs751568153
NM_014704.4(CEP104):c.1051_1054del (p.Thr351fs) rs749829859
NM_014704.4(CEP104):c.1485+1G>A
NM_014704.4(CEP104):c.162T>A (p.Cys54Ter)
NM_014704.4(CEP104):c.182del (p.Leu61fs)
NM_014704.4(CEP104):c.1867_1870del (p.Tyr623fs) rs1189678912
NM_014704.4(CEP104):c.2286del (p.Glu762fs)
NM_014704.4(CEP104):c.928dup (p.Ala310fs)
NM_014875.3(KIF14):c.1921dup (p.Ser641fs)
NM_014875.3(KIF14):c.2218C>T (p.Arg740Ter)
NM_014875.3(KIF14):c.2765_2766del (p.Lys922fs)
NM_014875.3(KIF14):c.8dup (p.Leu3fs)
NM_015272.5(RPGRIP1L):c.2239C>T (p.Arg747Ter) rs767686118
NM_015272.5(RPGRIP1L):c.3299_3300dup (p.Ala1101fs) rs797045104
NM_015272.5(RPGRIP1L):c.3558_3559dup (p.Pro1187fs) rs1200131247
NM_015272.5(RPGRIP1L):c.529+1688_609del
NM_015272.5(RPGRIP1L):c.650C>A (p.Ser217Ter)
NM_015631.6(TCTN3):c.256+2_256+7del rs1224169161
NM_016529.6(ATP8A2):c.1287G>T (p.Lys429Asn)
NM_016529.6(ATP8A2):c.2842A>T (p.Lys948Ter)
NM_018075.5(ANO10):c.1162+1G>A
NM_018294.6(CWF19L1):c.1045-2A>C
NM_019892.6(INPP5E):c.1224del (p.Ile409fs) rs2131608743
NM_019892.6(INPP5E):c.1608dup (p.Asp537Ter) rs2131605715
NM_019892.6(INPP5E):c.1757_1758del (p.Pro586fs)
NM_019892.6(INPP5E):c.1844_1846delinsGAA (p.Leu615_Leu616delinsTer)
NM_020247.5(COQ8A):c.1081-1_1082dup rs1057519344
NM_022464.5(SIL1):c.1038del (p.Glu347fs)
NM_030578.4(B9D2):c.220C>T (p.Pro74Ser) rs863225150
NM_030578.4(B9D2):c.223_224insT (p.Arg75fs)
NM_030578.4(B9D2):c.33delinsTG (p.Ala13fs)
NM_030578.4(B9D2):c.463G>A (p.Gly155Ser) rs750436680
NM_153240.5(NPHP3):c.1304_1306del (p.Glu435del) rs1456714047
NM_153240.5(NPHP3):c.1531C>T (p.Gln511Ter)
NM_153240.5(NPHP3):c.187_194del (p.Gly63fs) rs2108007892
NM_153240.5(NPHP3):c.1888-7_1893del rs1553773296
NM_153240.5(NPHP3):c.52del (p.Asp18fs) rs2108008280
NM_153704.6(TMEM67):c.1132-2A>G
NM_153704.6(TMEM67):c.114del (p.Phe39fs)
NM_153704.6(TMEM67):c.1964_1965dup (p.Gly656fs)
NM_153704.6(TMEM67):c.223+1G>C
NM_153704.6(TMEM67):c.370G>A (p.Glu124Lys) rs375824494
NM_198994.2(TGM6):c.425_435del11 rs1222726216

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