ClinVar Miner

List of variants reported as benign for Paroxysmal nonkinesigenic dyskinesia 1

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Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_015488.5(PNKD):c.*902T>C rs1052578 0.43563
NM_015488.5(PNKD):c.*1077G>A rs9076 0.43520
NM_015488.5(PNKD):c.*92C>A rs921970 0.35927
NM_015488.5(PNKD):c.*507G>C rs7586140 0.09268
NM_015488.5(PNKD):c.486G>A (p.Gly162=) rs34014804 0.06442
NM_015488.5(PNKD):c.*1193C>T rs76752438 0.04131
NM_015488.5(PNKD):c.652C>A (p.Arg218=) rs34745867 0.02221
NM_015488.5(PNKD):c.455G>A (p.Arg152Gln) rs73990423 0.01825
NM_015488.5(PNKD):c.939G>A (p.Arg313=) rs116144189 0.01354
NM_015488.5(PNKD):c.*1723T>C rs58320146 0.00937
NM_015488.5(PNKD):c.*992C>G rs115429065 0.00623
NM_015488.5(PNKD):c.*211C>T rs189926206 0.00565
NM_015488.5(PNKD):c.*1665G>A rs145193682 0.00564
NM_015488.5(PNKD):c.*451A>G rs148230498 0.00414
NM_015488.5(PNKD):c.*607T>C rs141201996 0.00217
NM_015488.5(PNKD):c.236+1180G>A rs148049021 0.00172
NM_015488.5(PNKD):c.254G>A (p.Arg85His) rs150402000 0.00140
NM_015488.5(PNKD):c.265G>A (p.Gly89Arg) rs147259983 0.00139
NM_015488.5(PNKD):c.*1549G>A rs79061826 0.00102
NM_015488.5(PNKD):c.*38G>A rs201679687 0.00078
NM_015488.5(PNKD):c.524+13C>T rs150529046 0.00078
NM_015488.5(PNKD):c.466-11C>T rs142473649 0.00070
NM_015488.5(PNKD):c.*1139C>G rs547847157 0.00068
NM_015488.5(PNKD):c.352+12C>T rs201092853 0.00064
NM_015488.5(PNKD):c.919G>A (p.Glu307Lys) rs139825405 0.00053
NM_015488.5(PNKD):c.237-9G>A rs371173395 0.00044
NM_015488.5(PNKD):c.781+12C>T rs370963150 0.00035
NM_015488.5(PNKD):c.323A>G (p.His108Arg) rs142536637 0.00017
NM_015488.5(PNKD):c.466-3C>A rs370929830 0.00011
NM_015488.5(PNKD):c.*1725T>C rs149172912 0.00007
NM_015488.5(PNKD):c.*1141G>A rs577960985 0.00006
NM_015488.5(PNKD):c.331A>G (p.Thr111Ala) rs202190131 0.00006
NM_015488.5(PNKD):c.653G>A (p.Arg218Gln) rs746884706 0.00006
NM_015488.5(PNKD):c.559C>T (p.Arg187Trp) rs375550686 0.00005
NM_015488.5(PNKD):c.299C>T (p.Ala100Val) rs374645683 0.00003
NM_015488.5(PNKD):c.*33C>T rs766072633 0.00001
NM_015488.5(PNKD):c.*982C>T rs140903787 0.00001
NM_015488.5(PNKD):c.*181G>C rs73088173
NM_015488.5(PNKD):c.*680_*681dup rs397775550
NM_015488.5(PNKD):c.560G>A (p.Arg187Gln) rs141506076

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