ClinVar Miner

List of variants reported as pathogenic for cerebellar ataxia by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (255):
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ClinVar version:
Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_005861.4(STUB1):c.433A>C (p.Lys145Gln) rs146251364 0.00063
NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys) rs121908096 0.00031
NM_001378615.1(CC2D2A):c.4667A>T (p.Asp1556Val) rs201502401 0.00020
NM_001044385.3(TMEM237):c.52C>T (p.Arg18Ter) rs199469707 0.00006
NM_001044385.3(TMEM237):c.1066dup (p.Gln356fs) rs751952525
NM_001080522.2(CC2D2A):c.3289delG rs386833751
NM_001114748.2(TMEM240):c.509C>T (p.Pro170Leu) rs606231451
NM_001134831.2(AHI1):c.1420del (p.Ile474fs) rs1369440486
NM_001163809.2(WDR81):c.3843C>A (p.Tyr1281Ter) rs2151169266
NM_001378452.1(ITPR1):c.4684G>A (p.Val1562Met) rs397514535
NM_001378452.1(ITPR1):c.742_744del (p.Glu248del) rs1559603328
NM_001378452.1(ITPR1):c.805C>T (p.Arg269Trp) rs886039392
NM_001378615.1(CC2D2A):c.2710G>T (p.Glu904Ter)
NM_001378615.1(CC2D2A):c.4256del (p.Gly1419fs) rs772110399
NM_001378615.1(CC2D2A):c.4465_4468del (p.Asp1489fs) rs797045437
NM_001382391.1(CSPP1):c.2542_2543del (p.Met848fs) rs587777143
NM_004977.3(KCNC3):c.1268G>A (p.Arg423His) rs797044872
NM_006796.3(AFG3L2):c.1168C>T (p.Arg390Ter)
NM_006946.4(SPTBN2):c.1438C>T (p.Arg480Trp) rs397514749
NM_014053.4(FLVCR1):c.441_445del (p.Trp148fs)
NM_014363.6(SACS):c.11265_11266del (p.Ile3755fs) rs1400601705
NM_014363.6(SACS):c.12673_12677del (p.Tyr4225fs)
NM_014363.6(SACS):c.470_471del (p.Tyr157fs) rs1444216187
NM_015046.7(SETX):c.6421dup (p.Gln2141fs)
NM_015215.4(CAMTA1):c.2072_2075del (p.Thr691fs)
NM_015378.4(VPS13D):c.1055dup (p.Tyr352Ter)
NM_018075.5(ANO10):c.96del (p.Glu33fs) rs758937084
NM_018896.5(CACNA1G):c.4591A>G (p.Met1531Val) rs1555558553
NM_020247.5(COQ8A):c.210del (p.Asn71fs)
NM_020680.4(SCYL1):c.1180del (p.Val394fs)
NM_025114.4(CEP290):c.7282_7286dup (p.Tyr2429Ter) rs2136546576
NM_182961.4(SYNE1):c.11560del (p.Ala3854fs)
NM_182961.4(SYNE1):c.25271_25273delinsA (p.Leu8424fs)

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