ClinVar Miner

List of variants in gene combination CHROMR, PRKRA reported as uncertain significance for combined dystonia

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_003690.5(PRKRA):c.*313G>A rs3997879 0.22352
NM_003690.5(PRKRA):c.*158A>G rs3997877 0.22348
NM_003690.5(PRKRA):c.*553A>G rs3997881 0.21501
NM_003690.5(PRKRA):c.*655T>C rs4533501 0.06663
NM_003690.5(PRKRA):c.*79G>A rs9678530 0.00036
NM_003690.5(PRKRA):c.*151A>T rs886055203 0.00026
NM_003690.5(PRKRA):c.*265A>C rs886055201 0.00021
NM_003690.5(PRKRA):c.796G>A (p.Ala266Thr) rs148050153 0.00006
NM_003690.5(PRKRA):c.851G>T (p.Cys284Phe) rs199725025 0.00005
NM_003690.5(PRKRA):c.654G>A (p.Leu218=) rs763093482 0.00003
NM_003690.5(PRKRA):c.784+15T>C rs367606024 0.00003
NM_003690.5(PRKRA):c.704G>C (p.Ser235Thr) rs756005650 0.00002
NM_003690.5(PRKRA):c.611C>G (p.Thr204Arg) rs1351253817 0.00001
NM_003690.5(PRKRA):c.766A>G (p.Ile256Val) rs769913085 0.00001
NM_003690.5(PRKRA):c.800A>G (p.Asn267Ser) rs557879457 0.00001
NM_003690.5(PRKRA):c.902A>G (p.Asn301Ser) rs778511975 0.00001
NM_003690.5(PRKRA):c.*180C>T rs886055202
NM_003690.5(PRKRA):c.*576G>A rs1696648689
NM_003690.5(PRKRA):c.616G>A (p.Val206Ile)
NM_003690.5(PRKRA):c.637T>C (p.Cys213Arg) rs1575088174
NM_003690.5(PRKRA):c.680A>G (p.Asn227Ser) rs1158107453
NM_003690.5(PRKRA):c.785-2_785-1insATATTTGGATAT rs751875722
NM_003690.5(PRKRA):c.795C>A (p.Ser265Arg) rs150679361
NM_003690.5(PRKRA):c.854A>G (p.His285Arg)
NM_003690.5(PRKRA):c.861C>A (p.Ser287=)
NM_003690.5(PRKRA):c.870C>T (p.Ser290=) rs537898766
NM_003690.5(PRKRA):c.923T>C (p.Ile308Thr)

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