ClinVar Miner

List of variants in gene LOC129997480, SYNE1 studied for cerebellar ataxia

Included ClinVar conditions (255):
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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_182961.4(SYNE1):c.17418G>A (p.Thr5806=) rs17082422 0.01643
NM_182961.4(SYNE1):c.17505C>T (p.Leu5835=) rs148731167 0.00035
NM_182961.4(SYNE1):c.17531C>G (p.Ser5844Cys) rs144244988 0.00010
NM_182961.4(SYNE1):c.17512A>C (p.Thr5838Pro) rs752135269 0.00009
NM_182961.4(SYNE1):c.17499G>C (p.Gly5833=) rs754642929 0.00008
NM_182961.4(SYNE1):c.17347-6C>T rs201692248 0.00007
NM_182961.4(SYNE1):c.17419A>G (p.Met5807Val) rs763218931 0.00004
NM_182961.4(SYNE1):c.17451G>A (p.Thr5817=) rs769954729 0.00003
NM_182961.4(SYNE1):c.17389T>C (p.Ser5797Pro) rs753335678 0.00002
NM_182961.4(SYNE1):c.17347-16G>C rs200637611 0.00001
NM_182961.4(SYNE1):c.17347G>C (p.Glu5783Gln) rs754105532 0.00001
NM_182961.4(SYNE1):c.17434G>A (p.Ala5812Thr) rs775815795 0.00001
NM_182961.4(SYNE1):c.17443C>G (p.Leu5815Val) rs987594036 0.00001
NM_182961.4(SYNE1):c.17464G>C (p.Glu5822Gln) rs2095193468 0.00001
NM_182961.4(SYNE1):c.17487G>A (p.Glu5829=) rs963252462 0.00001
NM_182961.4(SYNE1):c.17347-13A>G
NM_182961.4(SYNE1):c.17347-5C>T rs886043152
NM_182961.4(SYNE1):c.17367G>A (p.Lys5789=)
NM_182961.4(SYNE1):c.17368G>A (p.Gly5790Ser) rs764611066
NM_182961.4(SYNE1):c.17369G>A (p.Gly5790Asp) rs2153813360
NM_182961.4(SYNE1):c.17373C>A (p.Tyr5791Ter)
NM_182961.4(SYNE1):c.17426C>G (p.Ala5809Gly) rs2095195177
NM_182961.4(SYNE1):c.17448G>C (p.Leu5816=)
NM_182961.4(SYNE1):c.17450C>T (p.Thr5817Met)
NM_182961.4(SYNE1):c.17458G>A (p.Glu5820Lys) rs918895767
NM_182961.4(SYNE1):c.17458G>C (p.Glu5820Gln) rs918895767
NM_182961.4(SYNE1):c.17459A>G (p.Glu5820Gly) rs886042413
NM_182961.4(SYNE1):c.17471T>A (p.Leu5824Gln)
NM_182961.4(SYNE1):c.17483C>G (p.Thr5828Arg) rs150376715
NM_182961.4(SYNE1):c.17484A>G (p.Thr5828=)
NM_182961.4(SYNE1):c.17488G>C (p.Asp5830His) rs2095191599
NM_182961.4(SYNE1):c.17496T>C (p.Asp5832=)
NM_182961.4(SYNE1):c.17499G>A (p.Gly5833=) rs754642929
NM_182961.4(SYNE1):c.17501A>T (p.Glu5834Val) rs2153813002
NM_182961.4(SYNE1):c.17529C>G (p.Pro5843=) rs775771199
NM_182961.4(SYNE1):c.17529C>T (p.Pro5843=) rs775771199
NM_182961.4(SYNE1):c.17541+12G>T
NM_182961.4(SYNE1):c.17541+13_17541+15del
NM_182961.4(SYNE1):c.17541+17T>A

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