ClinVar Miner

List of variants studied for Spinocerebellar ataxia type 14 by Centogene AG - the Rare Disease Company

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_002739.5(PRKCG):c.1747G>A (p.Val583Met)	rs143513754	0.00015
NM_002739.5(PRKCG):c.220C>T (p.His74Tyr)	rs2122976509
NM_002739.5(PRKCG):c.686+300C>G	rs2068681112

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