ClinVar Miner

List of variants in gene PRKRA reported as benign for Dystonia 16

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_003690.5(PRKRA):c.173A>G (p.Asp58Gly) rs61999302 0.05105
NM_003690.5(PRKRA):c.549T>C (p.Asn183=) rs61746229 0.04819
NM_003690.5(PRKRA):c.609+20A>G rs73973115 0.02096
NM_003690.5(PRKRA):c.65+16G>A rs565738732 0.00168
NM_003690.5(PRKRA):c.65+10C>T rs535076601 0.00028
NM_003690.5(PRKRA):c.380C>T (p.Pro127Leu) rs75862065 0.00005
NM_003690.5(PRKRA):c.397-3T>C rs200249113 0.00001
NM_001139517.1(PRKRA):c.27_28ins57 (p.?)
NM_003690.5(PRKRA):c.203T>A (p.Phe68Tyr) rs539630421
NM_003690.5(PRKRA):c.515-11del rs199996045
NM_003690.5(PRKRA):c.66-4_66-3insTCCCAGAGCAGGCACCGCCGAGGCCCTGCCGCTGGAGCGCGAGGACAGTGGGACCTT rs1553599483

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