ClinVar Miner

List of variants in gene combination CHROMR, PRKRA reported as likely benign for combined dystonia

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_003690.5(PRKRA):c.861C>T (p.Ser287=) rs116833881 0.00976
NM_003690.5(PRKRA):c.784+6A>T rs188208530 0.00302
NM_003690.5(PRKRA):c.*31G>A rs372585947 0.00216
NM_003690.5(PRKRA):c.796G>A (p.Ala266Thr) rs148050153 0.00006
NM_003690.5(PRKRA):c.654G>A (p.Leu218=) rs763093482 0.00003
NM_003690.5(PRKRA):c.792G>C (p.Leu264=) rs750650286 0.00001
NM_003690.5(PRKRA):c.610-18T>G
NM_003690.5(PRKRA):c.699C>T (p.Leu233=)
NM_003690.5(PRKRA):c.784+14T>A rs748087429
NM_003690.5(PRKRA):c.784+15del rs200581051
NM_003690.5(PRKRA):c.785-14A>C
NM_003690.5(PRKRA):c.840C>T (p.Pro280=) rs1176724773
NM_003690.5(PRKRA):c.891T>C (p.Asp297=) rs2154124431

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