ClinVar Miner

List of variants reported as likely benign for Hereditary hyperekplexia

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ClinVar version:
Total variants: 151
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HGVS dbSNP gnomAD frequency
NM_000171.4(GLRA1):c.1166A>C (p.Asn389Thr) rs138173310 0.00071
NM_000171.4(GLRA1):c.915G>A (p.Val305=) rs150716717 0.00043
NM_000171.4(GLRA1):c.1296G>T (p.Met432Ile) rs141039714 0.00034
NM_000171.4(GLRA1):c.913-14C>A rs373113309 0.00026
NM_000171.4(GLRA1):c.522C>T (p.Pro174=) rs114046477 0.00025
NM_000171.4(GLRA1):c.1214G>A (p.Arg405Gln) rs199561280 0.00019
NM_000171.4(GLRA1):c.1031G>A (p.Arg344Gln) rs199618583 0.00018
NM_000171.4(GLRA1):c.297C>T (p.Pro99=) rs369500388 0.00014
NM_000171.4(GLRA1):c.1179C>T (p.Pro393=) rs772443569 0.00010
NM_000171.4(GLRA1):c.89G>A (p.Arg30His) rs199910297 0.00010
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_000171.4(GLRA1):c.433T>C (p.Leu145=) rs371496582 0.00006
NM_000171.4(GLRA1):c.636G>A (p.Leu212=) rs377524694 0.00006
NM_000171.4(GLRA1):c.1174A>G (p.Asn392Asp) rs775599403 0.00005
NM_000171.4(GLRA1):c.657A>G (p.Glu219=) rs146034962 0.00005
NM_000171.4(GLRA1):c.1022A>G (p.Glu341Gly) rs77451630 0.00004
NM_000171.4(GLRA1):c.411T>C (p.His137=) rs1455947088 0.00004
NM_000171.4(GLRA1):c.449G>A (p.Arg150Gln) rs561848502 0.00004
NM_000171.4(GLRA1):c.858C>T (p.Thr286=) rs781137100 0.00004
NM_000171.4(GLRA1):c.1032A>G (p.Arg344=) rs78363193 0.00003
NM_000171.4(GLRA1):c.1045C>A (p.Arg349=) rs752071816 0.00003
NM_000171.4(GLRA1):c.198C>T (p.Asn66=) rs200606738 0.00003
NM_000171.4(GLRA1):c.476+8C>T rs776829161 0.00003
NM_000171.4(GLRA1):c.888C>T (p.Ser296=) rs192326771 0.00003
NM_000171.4(GLRA1):c.93C>T (p.Ser31=) rs376610236 0.00003
NM_000171.4(GLRA1):c.94G>A (p.Ala32Thr) rs779993828 0.00003
NM_000171.4(GLRA1):c.981A>G (p.Leu327=) rs769499149 0.00003
NM_000171.4(GLRA1):c.1185T>C (p.Pro395=) rs368049933 0.00002
NM_000171.4(GLRA1):c.1326T>C (p.Arg442=) rs536795343 0.00002
NM_000171.4(GLRA1):c.150C>T (p.Ser50=) rs1402153449 0.00002
NM_000171.4(GLRA1):c.253-7G>A rs940690636 0.00002
NM_000171.4(GLRA1):c.477-5C>T rs560187719 0.00002
NM_000171.4(GLRA1):c.609C>T (p.Ala203=) rs773529731 0.00002
NM_000171.4(GLRA1):c.696A>G (p.Thr232=) rs374982085 0.00002
NM_000171.4(GLRA1):c.1023G>A (p.Glu341=) rs1310367742 0.00001
NM_000171.4(GLRA1):c.1080C>T (p.Gly360=) rs1763178853 0.00001
NM_000171.4(GLRA1):c.1101T>C (p.Tyr367=) rs758811460 0.00001
NM_000171.4(GLRA1):c.1110C>T (p.Gly370=) rs779431245 0.00001
NM_000171.4(GLRA1):c.1152C>T (p.Gly384=) rs570002981 0.00001
NM_000171.4(GLRA1):c.1153G>A (p.Ala385Thr) rs761971337 0.00001
NM_000171.4(GLRA1):c.1161C>G (p.Asn387Lys) rs768970494 0.00001
NM_000171.4(GLRA1):c.1335C>T (p.Asp445=) rs767779482 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.300C>T (p.Arg100=) rs1172371698 0.00001
NM_000171.4(GLRA1):c.306C>T (p.Ala102=) rs774085354 0.00001
NM_000171.4(GLRA1):c.378G>A (p.Leu126=) rs747286269 0.00001
NM_000171.4(GLRA1):c.42C>A (p.Thr14=) rs572343839 0.00001
NM_000171.4(GLRA1):c.480C>T (p.Ile160=) rs1413107798 0.00001
NM_000171.4(GLRA1):c.483C>G (p.Thr161=) rs773246071 0.00001
NM_000171.4(GLRA1):c.537A>C (p.Thr179=) rs770339430 0.00001
NM_000171.4(GLRA1):c.559+12G>A rs779606455 0.00001
NM_000171.4(GLRA1):c.570G>A (p.Thr190=) rs768174352 0.00001
NM_000171.4(GLRA1):c.697+9A>C rs886060280 0.00001
NM_000171.4(GLRA1):c.698-9T>C rs1166224628 0.00001
NM_000171.4(GLRA1):c.747T>C (p.Gly249=) rs1441470047 0.00001
NM_000171.4(GLRA1):c.913-12C>A rs1420894866 0.00001
NM_000171.4(GLRA1):c.913-8C>A rs768129276 0.00001
NM_000171.4(GLRA1):c.972A>G (p.Ser324=) rs762554462 0.00001
NM_000171.4(GLRA1):c.1059+14T>C rs1474660982
NM_000171.4(GLRA1):c.1059+15_1059+18dup
NM_000171.4(GLRA1):c.1059+18T>G rs763830285
NM_000171.4(GLRA1):c.1059+19G>A
NM_000171.4(GLRA1):c.1059+7C>A
NM_000171.4(GLRA1):c.1060-10T>A rs2113277422
NM_000171.4(GLRA1):c.1060-20C>T
NM_000171.4(GLRA1):c.1060-4C>A rs1581592732
NM_000171.4(GLRA1):c.1074A>G (p.Gly358=)
NM_000171.4(GLRA1):c.1134T>C (p.Asp378=) rs763726024
NM_000171.4(GLRA1):c.1176C>T (p.Asn392=)
NM_000171.4(GLRA1):c.1179C>A (p.Pro393=) rs772443569
NM_000171.4(GLRA1):c.117G>A (p.Ser39=) rs149023945
NM_000171.4(GLRA1):c.1239G>A (p.Lys413=) rs2113276577
NM_000171.4(GLRA1):c.1245C>T (p.Ile415=) rs759936512
NM_000171.4(GLRA1):c.126G>A (p.Leu42=) rs753072382
NM_000171.4(GLRA1):c.1284C>T (p.Leu428=) rs1581592341
NM_000171.4(GLRA1):c.1293C>T (p.Asn431=) rs1763170405
NM_000171.4(GLRA1):c.147C>G (p.Thr49=) rs1754099297
NM_000171.4(GLRA1):c.162C>T (p.Ala54=)
NM_000171.4(GLRA1):c.184+11T>G
NM_000171.4(GLRA1):c.184+14T>G
NM_000171.4(GLRA1):c.184+19C>A
NM_000171.4(GLRA1):c.185-15T>C
NM_000171.4(GLRA1):c.185-7T>C
NM_000171.4(GLRA1):c.18T>A (p.Thr6=)
NM_000171.4(GLRA1):c.204C>T (p.Ser68=)
NM_000171.4(GLRA1):c.252+17A>G
NM_000171.4(GLRA1):c.253-18_253-16del rs376416020
NM_000171.4(GLRA1):c.253-8G>C
NM_000171.4(GLRA1):c.253-9T>C
NM_000171.4(GLRA1):c.274C>T (p.Leu92=)
NM_000171.4(GLRA1):c.277C>A (p.Arg93=) rs199547699
NM_000171.4(GLRA1):c.291C>T (p.Asn97=)
NM_000171.4(GLRA1):c.30C>T (p.Tyr10=) rs1297899786
NM_000171.4(GLRA1):c.33T>C (p.Leu11=) rs1754960207
NM_000171.4(GLRA1):c.360C>A (p.Ser120=)
NM_000171.4(GLRA1):c.378G>T (p.Leu126=) rs747286269
NM_000171.4(GLRA1):c.39G>A (p.Glu13=) rs141704405
NM_000171.4(GLRA1):c.423A>G (p.Thr141=) rs1425567448
NM_000171.4(GLRA1):c.429C>T (p.Asn143=) rs1253160169
NM_000171.4(GLRA1):c.435G>A (p.Leu145=)
NM_000171.4(GLRA1):c.459T>C (p.Asn153=) rs575951950
NM_000171.4(GLRA1):c.45T>C (p.Ile15=) rs760969146
NM_000171.4(GLRA1):c.468C>T (p.Tyr156=) rs2113358884
NM_000171.4(GLRA1):c.471C>T (p.Ser157=) rs2113358874
NM_000171.4(GLRA1):c.476+10G>C rs557783325
NM_000171.4(GLRA1):c.476+20A>G
NM_000171.4(GLRA1):c.477-13C>T
NM_000171.4(GLRA1):c.490C>T (p.Leu164=)
NM_000171.4(GLRA1):c.51C>T (p.Phe17=) rs2113471944
NM_000171.4(GLRA1):c.54C>T (p.Phe18=) rs1754958953
NM_000171.4(GLRA1):c.559+18G>C
NM_000171.4(GLRA1):c.559+19T>C
NM_000171.4(GLRA1):c.560-15C>T
NM_000171.4(GLRA1):c.560-16T>C
NM_000171.4(GLRA1):c.560-4C>G rs2113350145
NM_000171.4(GLRA1):c.560-8C>T rs1391710473
NM_000171.4(GLRA1):c.560-9C>G rs1303387683
NM_000171.4(GLRA1):c.560-9C>T
NM_000171.4(GLRA1):c.564A>G (p.Gly188=)
NM_000171.4(GLRA1):c.57-14C>G
NM_000171.4(GLRA1):c.57-16CT[2]
NM_000171.4(GLRA1):c.621A>C (p.Ala207=)
NM_000171.4(GLRA1):c.624T>C (p.Asp208=)
NM_000171.4(GLRA1):c.690C>T (p.Tyr230=)
NM_000171.4(GLRA1):c.697+17C>T
NM_000171.4(GLRA1):c.699T>A (p.Gly233=)
NM_000171.4(GLRA1):c.720C>T (p.Ala240=)
NM_000171.4(GLRA1):c.753C>T (p.Tyr251=) rs770544327
NM_000171.4(GLRA1):c.786T>C (p.Ile262=) rs2113343560
NM_000171.4(GLRA1):c.798A>C (p.Ser266=) rs1581616753
NM_000171.4(GLRA1):c.798A>G (p.Ser266=) rs1581616753
NM_000171.4(GLRA1):c.807C>T (p.Ser269=)
NM_000171.4(GLRA1):c.843G>A (p.Val281=)
NM_000171.4(GLRA1):c.876C>G (p.Thr292=)
NM_000171.4(GLRA1):c.879C>G (p.Thr293=)
NM_000171.4(GLRA1):c.888C>A (p.Ser296=) rs192326771
NM_000171.4(GLRA1):c.912+10A>T rs1047432199
NM_000171.4(GLRA1):c.912+11T>C
NM_000171.4(GLRA1):c.912+11_912+12insCTC rs2113343212
NM_000171.4(GLRA1):c.912+12T>C
NM_000171.4(GLRA1):c.912+7C>T rs2113343240
NM_000171.4(GLRA1):c.912+8_912+9insTGCCGGCTCTCGAG rs2113343234
NM_000171.4(GLRA1):c.913-16del
NM_000171.4(GLRA1):c.913-19T>G
NM_000171.4(GLRA1):c.913-6dup rs2113290193
NM_000171.4(GLRA1):c.913-8C>T rs768129276
NM_000171.4(GLRA1):c.936C>T (p.Asp312=) rs1217083281
NM_000171.4(GLRA1):c.951T>G (p.Val317=)
NM_000171.4(GLRA1):c.99C>A (p.Pro33=)

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