ClinVar Miner

List of variants studied for hereditary hyperekplexia by Illumina Laboratory Services, Illumina

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 105
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HGVS dbSNP gnomAD frequency
NM_000824.5(GLRB):c.297+10C>T rs41280501 0.42413
NM_000171.4(GLRA1):c.-196C>T rs2071221 0.41437
NM_000824.5(GLRB):c.*542T>A rs1129304 0.41199
NM_000824.5(GLRB):c.-102T>C rs3822160 0.39474
NM_004211.5(SLC6A5):c.2239-6T>C rs2276432 0.17430
NM_000824.5(GLRB):c.*1040A>G rs11941419 0.17209
NM_004211.5(SLC6A5):c.2071-3C>A rs72932998 0.14713
NM_004211.5(SLC6A5):c.1499+15T>C rs80286799 0.08830
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_000171.4(GLRA1):c.1224C>T (p.Phe408=) rs62636580 0.02490
NM_000824.5(GLRB):c.*505T>A rs78155645 0.02225
NM_000171.4(GLRA1):c.559+8T>G rs73285947 0.01871
NM_000171.4(GLRA1):c.1041G>A (p.Arg347=) rs75463357 0.01573
NM_000824.5(GLRB):c.*903T>C rs116140979 0.01495
NM_000824.5(GLRB):c.611-14G>A rs11936411 0.01234
NM_000171.4(GLRA1):c.1108G>A (p.Gly370Ser) rs116474260 0.00939
NM_000171.4(GLRA1):c.390C>T (p.Asn130=) rs112970419 0.00652
NM_000824.5(GLRB):c.-69C>T rs3822159 0.00627
NM_000171.4(GLRA1):c.993C>T (p.Ala331=) rs17112272 0.00476
NM_000824.5(GLRB):c.122+4T>A rs3775725 0.00455
NM_000171.4(GLRA1):c.723G>C (p.Arg241=) rs76872663 0.00430
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_000171.4(GLRA1):c.117G>C (p.Ser39=) rs149023945 0.00191
NM_000171.4(GLRA1):c.-164C>T rs529450119 0.00169
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.*454A>G rs753501866 0.00041
NM_000824.5(GLRB):c.229+8T>G rs373221915 0.00034
NM_000824.5(GLRB):c.*301C>T rs571074596 0.00032
NM_000171.4(GLRA1):c.1046G>A (p.Arg349Gln) rs139213838 0.00031
NM_000824.5(GLRB):c.*789A>G rs567848682 0.00029
NM_000824.5(GLRB):c.*594A>T rs529863303 0.00026
NM_000171.4(GLRA1):c.522C>T (p.Pro174=) rs114046477 0.00025
NM_000824.5(GLRB):c.*1243A>G rs575496039 0.00025
NM_000171.4(GLRA1):c.1214G>A (p.Arg405Gln) rs199561280 0.00019
NM_000171.4(GLRA1):c.50T>C (p.Phe17Ser) rs376426309 0.00009
NM_000824.5(GLRB):c.92A>G (p.Lys31Arg) rs149863285 0.00009
NM_000171.4(GLRA1):c.23G>C (p.Arg8Pro) rs74542605 0.00007
NM_000171.4(GLRA1):c.324C>T (p.Asp108=) rs762489154 0.00006
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_000171.4(GLRA1):c.449G>A (p.Arg150Gln) rs561848502 0.00004
NM_000824.5(GLRB):c.423T>C (p.Pro141=) rs145564477 0.00004
NM_000171.4(GLRA1):c.1032A>G (p.Arg344=) rs78363193 0.00003
NM_000171.4(GLRA1):c.198C>T (p.Asn66=) rs200606738 0.00003
NM_000171.4(GLRA1):c.94G>A (p.Ala32Thr) rs779993828 0.00003
NM_000824.5(GLRB):c.*516G>A rs886059189 0.00003
NM_000824.5(GLRB):c.37A>G (p.Ile13Val) rs771937343 0.00003
NM_000171.4(GLRA1):c.1010G>A (p.Arg337Gln) rs1169119477 0.00002
NM_000171.4(GLRA1):c.477-5C>T rs560187719 0.00002
NM_000171.4(GLRA1):c.696A>G (p.Thr232=) rs374982085 0.00002
NM_000171.4(GLRA1):c.722G>A (p.Arg241Gln) rs375819582 0.00002
NM_000824.5(GLRB):c.*23A>G rs762423422 0.00002
NM_000824.5(GLRB):c.*437A>G rs1206008875 0.00002
NM_000824.5(GLRB):c.377A>T (p.Asp126Val) rs201218410 0.00002
NM_000171.4(GLRA1):c.-130G>A rs886060282 0.00001
NM_000171.4(GLRA1):c.-271G>C rs886060283 0.00001
NM_000171.4(GLRA1):c.1341C>T (p.His447=) rs773707878 0.00001
NM_000171.4(GLRA1):c.185-9G>A rs371382193 0.00001
NM_000171.4(GLRA1):c.56+2T>C rs778631570 0.00001
NM_000171.4(GLRA1):c.697+9A>C rs886060280 0.00001
NM_000824.5(GLRB):c.*1013A>T rs886059191 0.00001
NM_000824.5(GLRB):c.*1345A>G rs183788407 0.00001
NM_000824.5(GLRB):c.*162A>G rs528903429 0.00001
NM_000824.5(GLRB):c.*202T>C rs1419590838 0.00001
NM_000824.5(GLRB):c.*694T>C rs1275741229 0.00001
NM_000824.5(GLRB):c.1037A>G (p.Glu346Gly) rs758939135 0.00001
NM_000824.5(GLRB):c.210G>A (p.Arg70=) rs1440659826 0.00001
NM_000824.5(GLRB):c.692T>C (p.Phe231Ser) rs763516130 0.00001
NM_004211.5(SLC6A5):c.1624+9C>T rs745823180 0.00001
NM_004211.5(SLC6A5):c.2070+1G>A rs770660705 0.00001
NM_004211.5(SLC6A5):c.4-11T>C rs774039277 0.00001
NM_000171.4(GLRA1):c.-80G>A rs886060281
NM_000171.4(GLRA1):c.-81C>G rs1754966368
NM_000171.4(GLRA1):c.1181C>G (p.Pro394Arg) rs62636581
NM_000171.4(GLRA1):c.1181C>T (p.Pro394Leu) rs62636581
NM_000171.4(GLRA1):c.1333G>T (p.Asp445Tyr) rs886060279
NM_000171.4(GLRA1):c.253-14T>C rs780604003
NM_000171.4(GLRA1):c.346T>C (p.Ser116Pro) rs932099226
NM_000171.4(GLRA1):c.585C>T (p.Ile195=) rs370809444
NM_000171.4(GLRA1):c.610G>A (p.Val204Met) rs1554083817
NM_000824.4(GLRB):c.-182C>G rs574809389
NM_000824.4(GLRB):c.-182C>T rs574809389
NM_000824.4(GLRB):c.-212G>A rs576292950
NM_000824.5(GLRB):c.*334T>C rs188807631
NM_000824.5(GLRB):c.*750G>A rs1737920643
NM_000824.5(GLRB):c.*782T>C rs1737921837
NM_000824.5(GLRB):c.*787C>T rs573286942
NM_000824.5(GLRB):c.-89C>T rs1404847605
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.149G>A (p.Arg50Gln) rs746978405
NM_000824.5(GLRB):c.541C>G (p.Leu181Val) rs1736421231
NM_000824.5(GLRB):c.904+4A>G rs76714257
NM_000824.5(GLRB):c.904+4A>T rs76714257

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