ClinVar Miner

List of variants studied for cerebellar ataxia by Mendelics

Included ClinVar conditions (255):
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Total variants: 78
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HGVS dbSNP gnomAD frequency
NM_198994.3(TGM6):c.172A>G (p.Met58Val) rs2076405 0.93204
NM_001378452.1(ITPR1):c.2007G>A (p.Lys669=) rs2306875 0.68068
NM_182961.4(SYNE1):c.11734-5T>G rs9478320 0.59305
NM_001278064.2(GRM1):c.2977T>C (p.Ser993Pro) rs6923492 0.56892
NM_182961.4(SYNE1):c.3104T>C (p.Val1035Ala) rs214976 0.52364
NM_173500.4(TTBK2):c.23T>C (p.Leu8Pro) rs6493068 0.47359
NM_001077418.3(TMEM231):c.16C>G (p.Leu6Val) rs3743601 0.10494
NM_001349232.2(ATG7):c.1412T>C (p.Val471Ala) rs36117895 0.03931
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu) rs41272687 0.01478
NM_001142633.3(PIK3R5):c.1885C>T (p.Pro629Ser) rs61761068 0.00859
NM_182961.4(SYNE1):c.24952C>T (p.Leu8318Phe) rs141716975 0.00570
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser) rs147099630 0.00521
NM_001372574.1(ATXN2):c.-266C>T rs536609944 0.00138
NM_015215.4(CAMTA1):c.4007C>T (p.Thr1336Ile) rs137974312 0.00106
NM_182961.4(SYNE1):c.25381G>A (p.Glu8461Lys) rs119103248 0.00083
NM_005861.4(STUB1):c.433A>C (p.Lys145Gln) rs146251364 0.00063
NM_025114.4(CEP290):c.4813-2A>G rs369523378 0.00046
NM_182961.4(SYNE1):c.19692+3G>A rs150304757 0.00039
NM_014053.4(FLVCR1):c.1092+5G>A rs556788423 0.00032
NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met) rs121908102 0.00013
NM_000370.3(TTPA):c.513_514insTT (p.Thr172fs) rs397515379 0.00010
NM_022464.5(SIL1):c.274C>T (p.Arg92Trp) rs149242794 0.00009
NM_024411.5(PDYN):c.414G>T (p.Arg138Ser) rs267606941 0.00008
NM_198994.3(TGM6):c.1550T>G (p.Leu517Trp) rs387907097 0.00006
NM_000784.4(CYP27A1):c.562C>T (p.Arg188Ter) rs188850202 0.00004
NM_000784.4(CYP27A1):c.1421G>A (p.Arg474Gln) rs121908097 0.00003
NM_014053.4(FLVCR1):c.1546C>T (p.Arg516Ter) rs538343832 0.00003
NM_020247.5(COQ8A):c.895C>T (p.Arg299Trp) rs201908721 0.00003
NM_182961.4(SYNE1):c.9679G>A (p.Glu3227Lys) rs1024177161 0.00003
NM_000784.4(CYP27A1):c.1181T>C (p.Leu394Pro) rs1406298698 0.00001
NM_001077418.3(TMEM231):c.244G>T (p.Ala82Ser) rs541195377 0.00001
NM_014363.6(SACS):c.3391C>T (p.Leu1131Phe) rs139805032 0.00001
NM_014363.6(SACS):c.562G>A (p.Gly188Arg) rs780184251 0.00001
NM_020247.5(COQ8A):c.1706C>A (p.Ala569Asp) rs765235707 0.00001
NC_000019.10:g.40394766del rs1317590341
NM_000370.3(TTPA):c.172G>C (p.Ala58Pro) rs982650476
NM_000370.3(TTPA):c.359-3del rs398123340
NM_000784.4(CYP27A1):c.1052T>G (p.Leu351Arg) rs1470602732
NM_001080522.2(CC2D2A):c.[4093_4095delGAA];[4595_4596delCT]
NM_001128164.2(ATXN1):c.772G>T (p.Gly258Cys) rs144962740
NM_001130823.3(DNMT1):c.4641G>T (p.Glu1547Asp) rs2145253354
NM_001146262.4(SYT14):c.672AGA[1] (p.Glu225del) rs2307890
NM_001378452.1(ITPR1):c.4407+44GT[18] rs35795762
NM_001378452.1(ITPR1):c.6206A>G (p.Asn2069Ser) rs1360324926
NM_001378452.1(ITPR1):c.800C>G (p.Thr267Arg) rs797044955
NM_001940.4(ATN1):c.3182TGCACC[3] (p.1061LH[3]) rs2138219961
NM_002739.5(PRKCG):c.230G>A (p.Cys77Tyr) rs1599938631
NM_002739.5(PRKCG):c.367G>C (p.Gly123Arg) rs386134164
NM_002739.5(PRKCG):c.379C>A (p.Gln127Lys) rs1599943097
NM_004715.5(CTDP1):c.2418-207_2418-165dup rs147933855
NM_004977.3(KCNC3):c.1583T>G (p.Val528Gly) rs1601098237
NM_004977.3(KCNC3):c.1737ACCCCCGCC[1] (p.Pro583_Pro585del) rs747618525
NM_006946.4(SPTBN2):c.1438C>T (p.Arg480Trp) rs397514749
NM_007254.4(PNKP):c.1221_1223del (p.Thr408del) rs786205207
NM_014053.4(FLVCR1):c.1413+82TTG[6] rs41300975
NM_014363.6(SACS):c.11941C>T (p.Gln3981Ter) rs1593121484
NM_014363.6(SACS):c.3589T>C (p.Ser1197Pro) rs727503785
NM_014363.6(SACS):c.6000_6004del (p.Arg2002fs) rs773754134
NM_014363.6(SACS):c.8621_8624del (p.Ser2874fs) rs753012964
NM_015046.7(SETX):c.6017G>A (p.Cys2006Tyr) rs200154603
NM_015215.4(CAMTA1):c.2639G>A (p.Trp880Ter) rs1576691273
NM_015215.4(CAMTA1):c.3142C>T (p.Arg1048Ter) rs2149989087
NM_016529.6(ATP8A2):c.1761dup (p.Arg588fs) rs1156904586
NM_016529.6(ATP8A2):c.2655del (p.Asn886fs) rs1593326999
NM_018294.6(CWF19L1):c.187+1G>T rs1330992740
NM_020247.4(ADCK3):c.[1042C>T;1651G>A]
NM_020247.5(COQ8A):c.1358del (p.Leu453fs) rs1271428051
NM_022464.5(SIL1):c.158_159del (p.Arg53fs)
NM_024411.5(PDYN):c.217A>G (p.Thr73Ala) rs786205212
NM_024411.5(PDYN):c.658_659del (p.Trp220fs) rs748307861
NM_032856.5(WDR73):c.710dup (p.Gly238fs) rs1282630153
NM_032856.5(WDR73):c.926ATGGAACACGGAGCCAAG[1] (p.309DGTRSQ[1]) rs11267906
NM_152703.5(SAMD9L):c.2956C>T (p.Arg986Cys) rs1554341158
NM_153816.6(SNX14):c.1608+1G>T rs749656742
NM_181882.3(PRX):c.3198del (p.Phe1066fs) rs1599651549
NM_181882.3(PRX):c.4059GGA[6] (p.Glu1361del) rs139624657
NM_182961.4(SYNE1):c.4534C>T (p.Gln1512Ter) rs988770583
NM_198994.3(TGM6):c.1967+59AG[2] rs60388755

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