ClinVar Miner

List of variants studied for autosomal recessive ataxia, Beauce type by Genomic Research Center, Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_182961.4(SYNE1):c.14263C>T (p.Leu4755Phe) rs41301343 0.00100
NM_182961.4(SYNE1):c.25751A>C (p.Asp8584Ala) rs41291047 0.00041
NM_182961.4(SYNE1):c.16831C>T (p.Arg5611Trp) rs369292604 0.00017
NM_182961.4(SYNE1):c.21706G>A (p.Ala7236Thr) rs202121741 0.00006
NM_182961.4(SYNE1):c.11083-4A>G rs764920428
NM_182961.4(SYNE1):c.1376A>C (p.His459Pro) rs1593394821
NM_182961.4(SYNE1):c.1447G>A (p.Glu483Lys) rs1554768095
NM_182961.4(SYNE1):c.18012+1G>T rs1562842409
NM_182961.4(SYNE1):c.25717A>G (p.Lys8573Glu) rs1562922141
NM_182961.4(SYNE1):c.3023G>A (p.Trp1008Ter) rs1564136499
NM_182961.4(SYNE1):c.3674A>G (p.Glu1225Gly) rs1564070652
NM_182961.4(SYNE1):c.4329G>T (p.Met1443Ile) rs1245972676
NM_182961.4(SYNE1):c.434T>A (p.Leu145His) rs755531859
NM_182961.4(SYNE1):c.5098C>T (p.Gln1700Ter) rs1563941569

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