ClinVar Miner

List of variants reported as pathogenic for autosomal recessive syndromic cerebellar ataxia

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_007254.4(PNKP):c.1029+2T>C rs199919568 0.00115
NM_007254.4(PNKP):c.1123G>T (p.Gly375Trp) rs786203983 0.00004
NM_020680.4(SCYL1):c.526A>T (p.Lys176Ter) rs535912271 0.00003
NM_007254.4(PNKP):c.148C>G (p.Gln50Glu) rs756746191 0.00001
NM_015378.4(VPS13D):c.12629C>T (p.Ala4210Val) rs746736545 0.00001
NM_020680.4(SCYL1):c.1230+1G>A rs864309666 0.00001
NM_020680.4(SCYL1):c.1636C>T (p.Gln546Ter) rs864309667 0.00001
NM_020680.4(SCYL1):c.314C>T (p.Ala105Val) rs942522644 0.00001
NC_000004.11:g.39350045_39350099delinsAAGGG[(400_2000)]
NC_000004.12:g.39348425AAAGG[10_25]AAGGG[n]
NC_000004.12:g.39348425AAGGG[(400_2000)]
NC_000004.12:g.39348425AARRG[(400_2000)]
NC_000004.12:g.39348425_39348479delinsAAAGG[400_2000]
NM_001146262.4(SYT14):c.1316G>A (p.Gly439Asp) rs387907033
NM_002913.5(RFC1):c.1147C>T (p.Arg383Ter)
NM_002913.5(RFC1):c.1162C>T (p.Arg388Ter)
NM_002913.5(RFC1):c.2535+2T>C
NM_002913.5(RFC1):c.2690+1G>A
NM_002913.5(RFC1):c.575del (p.Asn192fs)
NM_007254.4(PNKP):c.1221_1223del (p.Thr408del) rs786205207
NM_007254.4(PNKP):c.1227_1228del (p.Cys409_Glu410delinsTer) rs1477525034
NM_007254.4(PNKP):c.1253_1269dup (p.Thr424fs) rs587784365
NM_007254.4(PNKP):c.1322_1323insAGCCG (p.Gly442fs) rs886037744
NM_007254.4(PNKP):c.1549_1550insTGTACTGC (p.Gln517fs) rs1555810613
NM_015378.4(VPS13D):c.1055dup (p.Tyr352Ter)
NM_015378.4(VPS13D):c.10562A>G (p.Asn3521Ser) rs1557737087
NM_015378.4(VPS13D):c.11926del (p.Gln3976fs)
NM_015378.4(VPS13D):c.12350C>G (p.Ser4117Ter) rs1645321968
NM_015378.4(VPS13D):c.12683G>A (p.Arg4228Gln) rs1557478316
NM_015378.4(VPS13D):c.2020C>T (p.Arg674Ter) rs756025227
NM_015378.4(VPS13D):c.3316C>T (p.Gln1106Ter) rs1557680710
NM_015378.4(VPS13D):c.3569G>A (p.Gly1190Asp) rs1557680919
NM_015378.4(VPS13D):c.5409C>A (p.Tyr1803Ter) rs1557684974
NM_015378.4(VPS13D):c.5725+2dup
NM_015378.4(VPS13D):c.7334_7335del (p.Val2445fs) rs1557705968
NM_015378.4(VPS13D):c.9871+2T>C
NM_020680.4(SCYL1):c.1173_1174dup (p.His392fs)
NM_020680.4(SCYL1):c.1180del (p.Val394fs)
NM_020680.4(SCYL1):c.1386+1G>A
NM_020680.4(SCYL1):c.1386+1G>T rs201581270
NM_020680.4(SCYL1):c.1433A>G (p.Asp478Gly) rs1554969925
NM_020680.4(SCYL1):c.1509_1510del (p.Ala504fs) rs864309665
NM_020680.4(SCYL1):c.1534dup (p.Cys512fs) rs1590740858
NM_020680.4(SCYL1):c.169C>T (p.Gln57Ter) rs1554967681
NM_020680.4(SCYL1):c.1882C>T (p.Gln628Ter) rs1554970375
NM_020680.4(SCYL1):c.451C>T (p.Arg151Ter) rs1320473430
NM_020680.4(SCYL1):c.937del (p.Val313fs) rs864309664
RFC1, (ACAGG)n REPEAT EXPANSION

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