ClinVar Miner

List of variants studied for Autosomal recessive spinocerebellar ataxia 10 by OMIM

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_018075.5(ANO10):c.1843G>A (p.Asp615Asn) rs138000380 0.00035
NM_018075.5(ANO10):c.1529T>G (p.Leu510Arg) rs387907089 0.00003
NM_018075.5(ANO10):c.1144G>T (p.Glu382Ter) rs144272231
NM_018075.5(ANO10):c.1150_1151del (p.Leu384fs) rs794726680
NM_018075.5(ANO10):c.132dup (p.Asp45fs) rs540331226
NM_018075.5(ANO10):c.1476+1G>T rs761213683
NM_018075.5(ANO10):c.1604del (p.Ala534_Leu535insTer) rs794726681

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