ClinVar Miner

List of variants in gene LOC130003010, PMPCA studied for Autosomal recessive spinocerebellar ataxia 2

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Gene type: Distinguish antisense genes from sense genes
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_015160.3(PMPCA):c.64C>T (p.Arg22Trp)	rs1057519454
NM_015160.3(PMPCA):c.71+3G>A

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