ClinVar Miner

List of variants in gene GLRB reported as benign for hereditary hyperekplexia

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_000824.5(GLRB):c.831T>C (p.Thr277=) rs12507409 0.97830
NM_000824.5(GLRB):c.297+10C>T rs41280501 0.42413
NM_000824.5(GLRB):c.*542T>A rs1129304 0.41199
NM_000824.5(GLRB):c.-102T>C rs3822160 0.39474
NM_000824.5(GLRB):c.*1040A>G rs11941419 0.17209
NM_000824.5(GLRB):c.*1181C>T rs10517662 0.07687
NM_000824.5(GLRB):c.*853T>C rs72685584 0.07650
NM_000824.5(GLRB):c.*160G>A rs57601959 0.06374
NM_000824.5(GLRB):c.948T>C (p.Leu316=) rs1801154 0.04794
NM_000824.5(GLRB):c.-16A>T rs57784760 0.02538
NM_000824.5(GLRB):c.*575T>C rs114822438 0.02526
NM_000824.5(GLRB):c.*505T>A rs78155645 0.02225
NM_000824.5(GLRB):c.*903T>C rs116140979 0.01495
NM_000824.5(GLRB):c.611-14G>A rs11936411 0.01234
NM_000824.5(GLRB):c.-69C>T rs3822159 0.00627
NM_000824.5(GLRB):c.122+4T>A rs3775725 0.00455
NM_000824.5(GLRB):c.*84G>A rs139743350 0.00426
NM_000824.5(GLRB):c.-26G>T rs184188234 0.00321
NM_000824.5(GLRB):c.*251A>G rs41279333 0.00223
NM_000824.5(GLRB):c.527+7T>C rs138020195 0.00215
NM_000824.5(GLRB):c.*997A>T rs11941412 0.00192
NM_000824.5(GLRB):c.765C>T (p.Cys255=) rs149595296 0.00178
NM_000824.5(GLRB):c.*139G>A rs186831115 0.00154
NM_000824.5(GLRB):c.-29-8T>C rs201748580 0.00136
NM_000824.5(GLRB):c.822C>T (p.Tyr274=) rs147320218 0.00042
NM_000824.5(GLRB):c.1198-16C>A rs78670342 0.00039
NM_000824.5(GLRB):c.229+8T>G rs373221915 0.00034
NM_000824.5(GLRB):c.*301C>T rs571074596 0.00032
NM_000824.5(GLRB):c.92A>G (p.Lys31Arg) rs149863285 0.00009
NM_000824.5(GLRB):c.1044A>G (p.Ala348=) rs139165593 0.00006
NM_000824.5(GLRB):c.952G>A (p.Ala318Thr) rs750803516 0.00005
NM_000824.5(GLRB):c.*23A>G rs762423422 0.00002
NM_000824.5(GLRB):c.*1345A>G rs183788407 0.00001
NM_000824.5(GLRB):c.1380C>T (p.Pro460=) rs548604111 0.00001
NM_000824.5(GLRB):c.627T>A (p.Asp209Glu) rs527904761 0.00001
NM_000824.4(GLRB):c.-182C>G rs574809389
NM_000824.4(GLRB):c.-212G>A rs576292950
NM_000824.5(GLRB):c.*334T>C rs188807631
NM_000824.5(GLRB):c.1385C>G (p.Ala462Gly) rs148031091
NM_000824.5(GLRB):c.1385C>T (p.Ala462Val) rs148031091
NM_000824.5(GLRB):c.298-7dup
NM_000824.5(GLRB):c.831= (p.Thr277=)
NM_000824.5(GLRB):c.904+4A>G rs76714257
NM_000824.5(GLRB):c.904+4A>T rs76714257

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