ClinVar Miner

List of variants studied for cerebellar ataxia by 3billion

Included ClinVar conditions (255):
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ClinVar version:
Total variants: 102
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HGVS dbSNP gnomAD frequency
NM_021830.5(TWNK):c.1523A>G (p.Tyr508Cys) rs80356540 0.00028
NM_032856.5(WDR73):c.354T>G (p.Asp118Glu) rs201827208 0.00016
NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met) rs121908102 0.00013
NM_001163809.2(WDR81):c.2051A>C (p.Gln684Pro) rs748793270 0.00013
NM_198994.3(TGM6):c.1024C>T (p.Arg342Trp) rs150566697 0.00010
NM_001382391.1(CSPP1):c.814C>T (p.Arg272Trp) rs756423026 0.00008
NM_001382391.1(CSPP1):c.5C>T (p.Ala2Val) rs553988238 0.00006
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832 0.00006
NM_001378615.1(CC2D2A):c.4333C>T (p.Arg1445Ter) rs529437224 0.00003
NM_020247.5(COQ8A):c.895C>T (p.Arg299Trp) rs201908721 0.00003
NM_001382391.1(CSPP1):c.2275C>T (p.Arg759Ter) rs771203308 0.00002
NM_014363.6(SACS):c.8716C>T (p.Arg2906Ter) rs750732115 0.00002
NM_000784.4(CYP27A1):c.1214G>A (p.Arg405Gln) rs121908099 0.00001
NM_000784.4(CYP27A1):c.1415G>C (p.Gly472Ala) rs200883871 0.00001
NM_001378615.1(CC2D2A):c.2162C>T (p.Pro721Leu) rs533830027 0.00001
NM_001382391.1(CSPP1):c.1186C>T (p.Arg396Ter) rs775285273 0.00001
NM_005861.4(STUB1):c.518G>T (p.Arg173Leu) rs755346712 0.00001
NM_006946.4(SPTBN2):c.2558C>T (p.Ala853Val) rs773989387 0.00001
NM_015378.4(VPS13D):c.5897G>A (p.Arg1966His) rs180883554 0.00001
NM_020247.5(COQ8A):c.637C>T (p.Arg213Trp) rs119468005 0.00001
NM_021830.5(TWNK):c.1618G>A (p.Gly540Arg) rs568256888 0.00001
NM_153704.6(TMEM67):c.725A>G (p.Asn242Ser) rs775883520 0.00001
NM_000370.3(TTPA):c.744del (p.Glu249fs) rs397515377
NM_001001344.3(ATP2B3):c.2541C>G (p.Asp847Glu)
NM_001020658.2(PUM1):c.1237C>T (p.His413Tyr)
NM_001044385.3(TMEM237):c.869+1G>A rs730882231
NM_001127222.2(CACNA1A):c.4494CTT[2] (p.Phe1501del) rs886041279
NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln) rs121908247
NM_001130823.3(DNMT1):c.1532A>G (p.Tyr511Cys) rs199473690
NM_001134831.2(AHI1):c.1326del (p.Val443fs) rs1788834778
NM_001134831.2(AHI1):c.1799_1802del (p.Lys600fs) rs1786504555
NM_001134831.2(AHI1):c.1889del (p.Ser630fs) rs1786487832
NM_001278064.2(GRM1):c.1715del (p.Asn572fs)
NM_001378452.1(ITPR1):c.6720G>C (p.Glu2240Asp)
NM_001378452.1(ITPR1):c.7798A>C (p.Thr2600Pro) rs2106494596
NM_001378452.1(ITPR1):c.805C>T (p.Arg269Trp) rs886039392
NM_001378615.1(CC2D2A):c.2993AAG[2] (p.Glu1000del) rs764874938
NM_001378615.1(CC2D2A):c.4389A>C (p.Lys1463Asn) rs1407804611
NM_001379286.1(ZNF423):c.2159T>C (p.Leu720Pro) rs762688948
NM_001382391.1(CSPP1):c.1187+1G>A
NM_001386140.1(MTTP):c.640del (p.Ala214fs) rs2110218614
NM_002739.5(PRKCG):c.1210G>A (p.Ala404Thr) rs769292201
NM_002739.5(PRKCG):c.1571C>G (p.Pro524Arg)
NM_003383.5(VLDLR):c.262dup (p.Arg88fs) rs2130785730
NM_003383.5(VLDLR):c.325+1del
NM_003383.5(VLDLR):c.376C>T (p.Gln126Ter)
NM_004977.3(KCNC3):c.1259G>A (p.Arg420His) rs104894699
NM_004977.3(KCNC3):c.1268G>A (p.Arg423His) rs797044872
NM_005861.4(STUB1):c.134C>A (p.Ala45Glu) rs2151503733
NM_005861.4(STUB1):c.391T>C (p.Phe131Leu) rs2151504534
NM_005861.4(STUB1):c.469C>T (p.Gln157Ter) rs776620952
NM_006793.5(PRDX3):c.451G>A (p.Gly151Ser)
NM_006793.5(PRDX3):c.508C>T (p.Arg170Ter) rs140609531
NM_006796.3(AFG3L2):c.2071G>A (p.Glu691Lys) rs151344520
NM_006796.3(AFG3L2):c.2156A>G (p.Lys719Arg)
NM_006946.4(SPTBN2):c.1154C>T (p.Thr385Met)
NM_006946.4(SPTBN2):c.1310G>A (p.Arg437Gln) rs1554986337
NM_006946.4(SPTBN2):c.1370T>C (p.Leu457Pro) rs1590954146
NM_006946.4(SPTBN2):c.5974C>T (p.Gln1992Ter) rs2135319250
NM_012268.4(PLD3):c.602A>T (p.His201Leu)
NM_014363.6(SACS):c.11008_11013del (p.Tyr3670_Gln3671del) rs2137570036
NM_014363.6(SACS):c.1252C>G (p.Pro418Ala)
NM_014363.6(SACS):c.13132C>T (p.Arg4378Ter) rs747868017
NM_014363.6(SACS):c.1596T>A (p.Tyr532Ter) rs2137720760
NM_014363.6(SACS):c.3159_3160del (p.Leu1053_Phe1054insTer) rs2137637877
NM_014363.6(SACS):c.4684del (p.Ser1562fs) rs1275667662
NM_014363.6(SACS):c.5037_5038del (p.Cys1679fs) rs1868917066
NM_014363.6(SACS):c.5645T>G (p.Leu1882Trp)
NM_014363.6(SACS):c.7634del (p.Met2545fs)
NM_014363.6(SACS):c.8009dup (p.Leu2670fs)
NM_014363.6(SACS):c.9219_9220del (p.Cys3073_Asp3074delinsTer)
NM_014363.6(SACS):c.9346_9354dup (p.Lys3116_Pro3118dup) rs2137584629
NM_014363.6(SACS):c.9879del (p.Val3294fs) rs2137580025
NM_015046.7(SETX):c.4931_4932del (p.Ile1644fs) rs2131428041
NM_015046.7(SETX):c.6694C>T (p.Arg2232Cys) rs759299299
NM_015160.3(PMPCA):c.1204C>T (p.Arg402Ter)
NM_015160.3(PMPCA):c.667C>T (p.Arg223Cys)
NM_015215.4(CAMTA1):c.2779+5G>A rs2149222075
NM_015378.4(VPS13D):c.8983C>T (p.Arg2995Ter) rs202180923
NM_015378.4(VPS13D):c.9871+2T>C
NM_016529.6(ATP8A2):c.1272T>G (p.Tyr424Ter)
NM_016529.6(ATP8A2):c.3273-3C>G rs748588986
NM_016529.6(ATP8A2):c.518del (p.Gly173fs) rs2038343394
NM_016529.6(ATP8A2):c.535G>A (p.Val179Ile)
NM_016529.6(ATP8A2):c.709del (p.Thr237fs) rs2137994737
NM_017777.4(MKS1):c.1483C>T (p.Gln495Ter) rs2143737457
NM_018075.5(ANO10):c.1056dup (p.Glu353Ter)
NM_018075.5(ANO10):c.132dup (p.Asp45fs) rs540331226
NM_018075.5(ANO10):c.96del (p.Glu33fs) rs758937084
NM_018294.6(CWF19L1):c.467del (p.Pro156fs) rs879255654
NM_018896.5(CACNA1G):c.907G>A (p.Glu303Lys)
NM_020247.5(COQ8A):c.1015G>A (p.Ala339Thr) rs755933881
NM_020680.4(SCYL1):c.1386+1G>A
NM_020680.4(SCYL1):c.1591_1610del (p.Arg531fs)
NM_021814.5(ELOVL5):c.692G>T (p.Trp231Leu)
NM_021830.5(TWNK):c.1287C>T (p.Ala429=) rs80356541
NM_022464.5(SIL1):c.1030-18G>A
NM_032856.5(WDR73):c.287G>A (p.Arg96Lys) rs797044995
NM_032856.5(WDR73):c.602G>A (p.Gly201Glu) rs2141836997
NM_152296.5(ATP1A3):c.2452G>A (p.Glu818Lys) rs587777771
NM_152703.5(SAMD9L):c.499C>A (p.Pro167Thr)
NM_182961.4(SYNE1):c.8618C>G (p.Ser2873Ter) rs1332414511

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