ClinVar Miner

List of variants in gene TTPA reported as benign for cerebellar ataxia

Included ClinVar conditions (253):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_000370.3(TTPA):c.663+11T>C rs4501570 0.59337
NM_000370.3(TTPA):c.*1093G>A rs4587328 0.59276
NM_000370.3(TTPA):c.*1487G>A rs6472068 0.51778
NM_000370.3(TTPA):c.*1404G>A rs56675911 0.01322
NM_000370.3(TTPA):c.*782C>T rs114278576 0.00716
NM_000370.3(TTPA):c.664-4T>G rs2045224 0.00304
NM_000370.3(TTPA):c.24C>G (p.Pro8=) rs140010311 0.00172
NM_000370.3(TTPA):c.471C>A (p.Ile157=) rs572263038 0.00001
NM_000370.3(TTPA):c.*576_*578del rs10543235
NM_000370.3(TTPA):c.359-3del rs398123340

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