ClinVar Miner

List of variants reported as uncertain significance for Autosomal recessive spinocerebellar ataxia 16

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_005861.4(STUB1):c.433A>C (p.Lys145Gln) rs146251364 0.00063
NM_005861.4(STUB1):c.518G>T (p.Arg173Leu) rs755346712 0.00001
NM_005861.4(STUB1):c.116dup (p.Arg40fs)
NM_005861.4(STUB1):c.346A>G (p.Asn116Asp) rs1456416134
NM_005861.4(STUB1):c.391T>C (p.Phe131Leu) rs2151504534
NM_005861.4(STUB1):c.460C>T (p.Arg154Cys)
NM_005861.4(STUB1):c.525-8A>G rs2151505130
NM_005861.4(STUB1):c.612+11C>G rs1567281056
NM_005861.4(STUB1):c.612+4_612+46del rs2151505435
NM_005861.4(STUB1):c.746G>T (p.Gly249Val) rs2151506587
NM_005861.4(STUB1):c.860AGG[1] (p.Glu288del) rs770947195

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