ClinVar Miner

List of variants reported as pathogenic for Dystonia 16

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_003690.5(PRKRA):c.665C>T (p.Pro222Leu)	rs121434410	0.00009
NM_003690.5(PRKRA):c.638G>T (p.Cys213Phe)	rs752452731	0.00003
NM_003690.5(PRKRA):c.267_268del (p.His89fs)	rs730880307

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