ClinVar Miner

List of variants reported as uncertain significance for Spinocerebellar ataxia 43 by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_007289.4(MME):c.1040A>G (p.Tyr347Cys)	rs138218277	0.00064
NM_007289.4(MME):c.1735G>A (p.Gly579Ser)	rs767928746	0.00001
NM_007289.4(MME):c.1946T>G (p.Ile649Ser)	rs184666602

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