ClinVar Miner

List of variants studied for cerebellar degeneration by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (265):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 107
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HGVS dbSNP gnomAD frequency
NM_007254.4(PNKP):c.1029+2T>C rs199919568 0.00115
NM_007289.4(MME):c.1040A>G (p.Tyr347Cys) rs138218277 0.00064
NM_001128164.2(ATXN1):c.609G>T (p.Gln203His) rs199744696 0.00060
NM_015046.7(SETX):c.2479A>G (p.Lys827Glu) rs150532677 0.00058
NM_001378615.1(CC2D2A):c.1041C>T (p.Asp347=) rs371086728 0.00056
NM_025114.4(CEP290):c.2991+1655A>G rs281865192 0.00029
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala) rs80358257 0.00021
NM_015215.4(CAMTA1):c.806-11G>A rs200922493 0.00014
NM_182961.4(SYNE1):c.9604C>T (p.Arg3202Cys) rs749550071 0.00013
NM_001077365.2(POMT1):c.1793G>A (p.Arg598Gln) rs202140413 0.00011
NM_018075.5(ANO10):c.223T>A (p.Ser75Thr) rs191413952 0.00011
NM_000370.3(TTPA):c.513_514insTT (p.Thr172fs) rs397515379 0.00010
NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter) rs137852834 0.00009
NM_007289.4(MME):c.1342C>T (p.Arg448Ter) rs149905705 0.00008
NM_025114.4(CEP290):c.4882C>T (p.Gln1628Ter) rs376493409 0.00007
NM_001166114.2(PNPLA6):c.4045C>T (p.Arg1349Trp) rs374434303 0.00006
NM_001372574.1(ATXN2):c.3322A>G (p.Met1108Val) rs775411387 0.00005
NM_001378615.1(CC2D2A):c.3065G>A (p.Arg1022Gln) rs770896540 0.00004
NM_014363.6(SACS):c.4724G>A (p.Arg1575Gln) rs764992284 0.00004
NM_025114.4(CEP290):c.1669C>T (p.Arg557Cys) rs561018129 0.00003
NM_025114.4(CEP290):c.514A>C (p.Lys172Gln) rs765944337 0.00003
NM_182961.4(SYNE1):c.24802G>A (p.Glu8268Lys) rs527527845 0.00003
NM_000271.5(NPC1):c.1421C>T (p.Pro474Leu) rs372445155 0.00002
NM_002739.5(PRKCG):c.1382C>T (p.Ala461Val) rs751774653 0.00002
NM_006946.4(SPTBN2):c.6536G>A (p.Arg2179Gln) rs759206588 0.00002
NM_018896.5(CACNA1G):c.6949G>A (p.Glu2317Lys) rs767121010 0.00002
NM_025114.4(CEP290):c.4522C>T (p.Arg1508Ter) rs749439750 0.00002
NM_000784.4(CYP27A1):c.1420C>T (p.Arg474Trp) rs121908098 0.00001
NM_001127222.2(CACNA1A):c.574C>T (p.Arg192Trp) rs1057518779 0.00001
NM_001347702.2(SYNE1):c.1472A>G (p.Tyr491Cys) rs1384400002 0.00001
NM_001378615.1(CC2D2A):c.2999A>T (p.Glu1000Val) rs773881370 0.00001
NM_003172.4(SURF1):c.751+5G>A rs781934508 0.00001
NM_004115.4(FGF14):c.71C>T (p.Pro24Leu) rs757752994 0.00001
NM_006392.4(NOP56):c.452G>C (p.Ser151Thr) rs1360494485 0.00001
NM_006946.4(SPTBN2):c.4986-5T>G rs1371679359 0.00001
NM_007289.4(MME):c.1735G>A (p.Gly579Ser) rs767928746 0.00001
NM_013236.4(ATXN10):c.13A>G (p.Arg5Gly) rs1296770412 0.00001
NM_015166.4(MLC1):c.178-10T>A rs80358243 0.00001
NM_015215.4(CAMTA1):c.2227G>A (p.Gly743Arg) rs965685976 0.00001
NM_016529.6(ATP8A2):c.1058-2A>G rs1304832284 0.00001
NM_018896.5(CACNA1G):c.1998C>A (p.Ser666Arg) rs1207224249 0.00001
NM_021814.5(ELOVL5):c.577C>T (p.Arg193Cys) rs761391551 0.00001
NM_025114.4(CEP290):c.1936C>T (p.Gln646Ter) rs780225183 0.00001
NM_025114.4(CEP290):c.6012-2A>G rs555755221 0.00001
NM_198525.3(KIF7):c.434A>C (p.Tyr145Ser) rs758361736 0.00001
GRCh37/hg19 22q11.23(chr22:23720171-25065576)
NC_000004.12:g.39348425AAGGG[(400_2000)]
NC_012920.1(MT-CO3):m.9355A>T rs1556423663
NM_000051.4(ATM):c.689del (p.Asn230fs) rs1057518965
NM_001128164.2(ATXN1):c.1804G>T (p.Ala602Ser) rs1760808820
NM_001130823.3(DNMT1):c.2718C>G (p.Phe906Leu) rs1057518774
NM_001130823.3(DNMT1):c.2920C>T (p.Arg974Cys) rs2089651800
NM_001130823.3(DNMT1):c.3042G>C (p.Glu1014Asp) rs745780816
NM_001166114.2(PNPLA6):c.898C>G (p.Pro300Ala) rs1057518936
NM_001372574.1(ATXN2):c.1921A>C (p.Lys641Gln) rs867381855
NM_001376.5(DYNC1H1):c.13298A>C (p.Asp4433Ala) rs1555412625
NM_001377405.1(ATXN7):c.2654_2656del (p.Leu885del) rs748138546
NM_001378615.1(CC2D2A):c.1149+1G>A rs1553827236
NM_001378615.1(CC2D2A):c.4179+1del rs386833760
NM_001382391.1(CSPP1):c.2259_2260del (p.Glu755fs) rs587777139
NM_003172.4(SURF1):c.845_846del (p.Ser282fs) rs782316919
NM_004056.6(CA8):c.730dup (p.Gln244fs) rs1807291595
NM_004115.4(FGF14):c.429C>A (p.Cys143Ter) rs2035466147
NM_004366.6(CLCN2):c.740G>T (p.Gly247Val) rs1553856477
NM_004408.4(DNM1):c.139G>A (p.Val47Met) rs869312702
NM_004715.5(CTDP1):c.2649G>A (p.Glu883=) rs2086667654
NM_004993.6(ATXN3):c.892CAG[12] (p.Gln302_Gln305dup) rs193922928
NM_006516.4(SLC2A1):c.470dup (p.Thr158fs) rs1057518821
NM_006772.3(SYNGAP1):c.3200del (p.Pro1067fs) rs1057518796
NM_006946.4(SPTBN2):c.3236C>T (p.Ala1079Val) rs763021473
NM_006946.4(SPTBN2):c.5504C>T (p.Ala1835Val) rs1940531426
NM_006946.4(SPTBN2):c.6688G>C (p.Glu2230Gln) rs1940196069
NM_006946.4(SPTBN2):c.7096C>T (p.Pro2366Ser) rs1940076802
NM_006946.4(SPTBN2):c.901A>G (p.Met301Val) rs897181468
NM_007289.4(MME):c.1946T>G (p.Ile649Ser) rs184666602
NM_007289.4(MME):c.467del (p.Pro156fs) rs749320057
NM_007289.4(MME):c.594dup (p.Val199fs) rs1254522989
NM_013236.4(ATXN10):c.116+4A>T rs1160067775
NM_014363.6(SACS):c.8596A>G (p.Arg2866Gly) rs1868466055
NM_015046.7(SETX):c.1285A>G (p.Ile429Val) rs747053403
NM_015046.7(SETX):c.6637C>G (p.Pro2213Ala) rs1843502057
NM_015215.4(CAMTA1):c.2473A>G (p.Ser825Gly) rs765488241
NM_015215.4(CAMTA1):c.4453G>A (p.Glu1485Lys) rs2096854165
NM_015215.4(CAMTA1):c.511-22_511-19del rs2095751767
NM_015215.4(CAMTA1):c.851G>A (p.Arg284His) rs767725186
NM_016529.6(ATP8A2):c.210del (p.Asp70fs) rs2035763126
NM_018896.5(CACNA1G):c.2185T>C (p.Trp729Arg) rs2041195702
NM_018896.5(CACNA1G):c.4675C>T (p.Arg1559Cys) rs756359036
NM_018896.5(CACNA1G):c.6485C>A (p.Pro2162His) rs2053744294
NM_025114.4(CEP290):c.1514_1515del (p.Glu505fs) rs886043303
NM_025114.4(CEP290):c.2941C>T (p.Gln981Ter) rs1057518822
NM_025114.4(CEP290):c.3541G>C (p.Glu1181Gln) rs1466311097
NM_025114.4(CEP290):c.3814C>T (p.Arg1272Ter) rs62640581
NM_025114.4(CEP290):c.3894dup (p.Lys1299Ter) rs761907569
NM_025114.4(CEP290):c.4452_4455del (p.Lys1484fs) rs780624853
NM_025114.4(CEP290):c.5493del (p.Ala1832fs) rs386834158
NM_025114.4(CEP290):c.6842A>T (p.Glu2281Val) rs2033943524
NM_025114.4(CEP290):c.7027del (p.Val2343fs) rs2033827549
NM_152703.5(SAMD9L):c.3156C>G (p.Asp1052Glu) rs1792194225
NM_153816.6(SNX14):c.1300C>T (p.Gln434Ter) rs1784370895
NM_182961.4(SYNE1):c.12009dup (p.Gln4004fs) rs2096651533
NM_182961.4(SYNE1):c.13948C>T (p.Arg4650Ter) rs866163858
NM_182961.4(SYNE1):c.17203-5C>A rs886044642
NM_182961.4(SYNE1):c.20863-5T>G rs2082753195
NM_182961.4(SYNE1):c.888+2T>A rs754518742
NM_182961.4(SYNE1):c.9827A>G (p.Asp3276Gly) rs188684213
NM_198994.3(TGM6):c.76C>T (p.Pro26Ser) rs766248910

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