ClinVar Miner

List of variants studied for cerebellar disorder by Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München

Included ClinVar conditions (275):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_005861.4(STUB1):c.433A>C (p.Lys145Gln) rs146251364 0.00063
NM_021830.5(TWNK):c.1523A>G (p.Tyr508Cys) rs80356540 0.00028
NM_018294.6(CWF19L1):c.665G>A (p.Arg222Gln) rs772697259 0.00008
NM_020247.5(COQ8A):c.638G>A (p.Arg213Gln) rs767584322 0.00003
NM_020247.5(COQ8A):c.911C>T (p.Ala304Val) rs748118737 0.00002
NM_025114.4(CEP290):c.6277del (p.Val2093fs) rs771454167 0.00002
NM_001510.4(GRID2):c.671G>A (p.Arg224Gln) rs368143665 0.00001
NM_006796.3(AFG3L2):c.2065T>C (p.Tyr689His) rs1598820860 0.00001
NM_014363.6(SACS):c.4744G>A (p.Asp1582Asn) rs1160357920 0.00001
NM_015046.7(SETX):c.5825T>C (p.Ile1942Thr) rs773379832 0.00001
NM_015046.7(SETX):c.6620A>T (p.Asp2207Val) rs1564482221 0.00001
NM_021830.5(TWNK):c.1196A>G (p.Asn399Ser) rs863223921 0.00001
NM_182961.4(SYNE1):c.20263C>T (p.Arg6755Ter) rs780451185 0.00001
GRCh37/hg19 13q33.1(chr13:102521075-102568995)
NM_001114748.2(TMEM240):c.509C>T (p.Pro170Leu) rs606231451
NM_001130823.3(DNMT1):c.1823T>G (p.Leu608Arg) rs2038416963
NM_001130823.3(DNMT1):c.4298T>C (p.Met1433Thr) rs1599341718
NM_001134831.2(AHI1):c.2266+1G>A
NM_001378969.1(KCND3):c.1130C>T (p.Thr377Met) rs1571636501
NM_005861.4(STUB1):c.194A>G (p.Asn65Ser) rs690016544
NM_005861.4(STUB1):c.427AAG[2] (p.Lys145del) rs779647632
NM_005861.4(STUB1):c.823dup (p.Leu275fs) rs2039704361
NM_006796.3(AFG3L2):c.1119T>A (p.Ser373Arg) rs1598832568
NM_006946.4(SPTBN2):c.1052G>C (p.Arg351Pro) rs541484241
NM_006946.4(SPTBN2):c.1877T>C (p.Leu626Pro) rs1554984881
NM_006946.4(SPTBN2):c.5991_5992del (p.Glu1997fs) rs1590911156
NM_014363.6(SACS):c.8793del (p.Lys2931fs) rs767871841
NM_015046.7(SETX):c.6464T>G (p.Leu2155Trp) rs1473613373
NM_015215.4(CAMTA1):c.2416_2419del (p.Ser806fs)
NM_015215.4(CAMTA1):c.3585_3592del (p.Trp1197fs) rs2096780961
NM_015378.4(VPS13D):c.12743C>A (p.Ala4248Glu) rs779850187
NM_015378.4(VPS13D):c.2020C>T (p.Arg674Ter) rs756025227
NM_016529.6(ATP8A2):c.691_701del (p.Leu231fs) rs2038491713
NM_018075.5(ANO10):c.1025G>A (p.Trp342Ter) rs1405576707
NM_018075.5(ANO10):c.1551dup (p.Ala518fs) rs2079693628
NM_018294.6(CWF19L1):c.1114C>T (p.Gln372Ter) rs1846512047
NM_018896.5(CACNA1G):c.4592T>C (p.Met1531Thr)
NM_020247.5(COQ8A):c.1013C>T (p.Ala338Val) rs767406263
NM_020247.5(COQ8A):c.175C>T (p.Gln59Ter) rs1572040505
NM_020247.5(COQ8A):c.656-1G>T rs903436781
NM_025114.4(CEP290):c.3175dup (p.Ile1059fs) rs62640570
NM_032856.5(WDR73):c.287G>A (p.Arg96Lys) rs797044995
NM_032856.5(WDR73):c.706_719dup (p.Ser240fs) rs1596050297
NM_032856.5(WDR73):c.766dup (p.Arg256fs) rs727502864
NM_152296.5(ATP1A3):c.2312C>T (p.Thr771Ile) rs557939077
NM_152296.5(ATP1A3):c.2543G>C (p.Gly848Ala) rs1599705281
NM_182961.4(SYNE1):c.12247C>T (p.Gln4083Ter) rs1590463470
NM_182961.4(SYNE1):c.15280del (p.Asp5094fs)
NM_182961.4(SYNE1):c.4310+1G>A
NM_182961.4(SYNE1):c.4908C>A (p.Tyr1636Ter) rs771955377

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