ClinVar Miner

List of variants in gene combination CHROMR, PRKRA reported as benign for basal ganglia disorder

Included ClinVar conditions (83):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_003690.5(PRKRA):c.685C>T (p.Leu229=) rs62176107 0.22118
NM_003690.5(PRKRA):c.*198C>T rs3997878 0.21384
NM_003690.5(PRKRA):c.*3C>T rs3997876 0.21371
NM_003690.5(PRKRA):c.677T>A (p.Ile226Asn) rs77419724 0.13676
NM_003690.5(PRKRA):c.*200G>A rs141995027 0.01989
NM_003690.5(PRKRA):c.*159T>C rs115244185 0.01037
NM_003690.5(PRKRA):c.795C>T (p.Ser265=) rs150679361 0.00662
NM_003690.5(PRKRA):c.610-11_610-10del rs138320145
NM_003690.5(PRKRA):c.784+15del rs200581051
NM_003690.5(PRKRA):c.784+15dup

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