ClinVar Miner

List of variants reported as uncertain significance for autosomal recessive ataxia, Beauce type by Baylor Genetics

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_182961.4(SYNE1):c.14452T>A (p.Tyr4818Asn) rs142422990 0.00101
NM_182961.4(SYNE1):c.21995A>C (p.His7332Pro) rs151247098 0.00080
NM_182961.4(SYNE1):c.3536A>C (p.Glu1179Ala) rs117461489 0.00057
NM_182961.4(SYNE1):c.334A>T (p.Thr112Ser) rs750010888 0.00006
NM_182961.4(SYNE1):c.13918T>C (p.Tyr4640His) rs748256440 0.00003
NM_182961.4(SYNE1):c.14634A>C (p.Glu4878Asp) rs1159750019 0.00001
NM_182961.4(SYNE1):c.21077A>C (p.Glu7026Ala) rs777755452 0.00001
NM_182961.4(SYNE1):c.8984T>C (p.Ile2995Thr) rs527822279 0.00001
NM_182961.4(SYNE1):c.17483C>G (p.Thr5828Arg) rs150376715
NM_182961.4(SYNE1):c.18409G>A (p.Val6137Met) rs945540285
NM_182961.4(SYNE1):c.9821G>A (p.Arg3274Lys) rs2097100149

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