ClinVar Miner

List of variants studied for autosomal recessive syndromic cerebellar ataxia by OMIM

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_007254.4(PNKP):c.1123G>T (p.Gly375Trp) rs786203983 0.00004
NM_015378.4(VPS13D):c.12629C>T (p.Ala4210Val) rs746736545 0.00001
NM_020680.4(SCYL1):c.314C>T (p.Ala105Val) rs942522644 0.00001
NC_000004.12:g.39348425AAAGG[10_25]AAGGG[n]
NC_000004.12:g.39348425AARRG[(400_2000)]
NM_001146262.4(SYT14):c.1316G>A (p.Gly439Asp) rs387907033
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.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.10562A>G (p.Asn3521Ser) rs1557737087
NM_015378.4(VPS13D):c.12683G>A (p.Arg4228Gln) rs1557478316
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.7334_7335del (p.Val2445fs) rs1557705968
NM_020680.4(SCYL1):c.1433A>G (p.Asp478Gly) rs1554969925
NM_020680.4(SCYL1):c.169C>T (p.Gln57Ter) rs1554967681
NM_020680.4(SCYL1):c.1882C>T (p.Gln628Ter) rs1554970375

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