ClinVar Miner

List of variants in gene GPD1L reported as uncertain significance for Brugada syndrome

Included ClinVar conditions (45):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 123
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HGVS dbSNP gnomAD frequency
NM_015141.4(GPD1L):c.370A>G (p.Ile124Val) rs72552293 0.00291
NM_015141.4(GPD1L):c.520G>A (p.Glu174Lys) rs112122950 0.00034
NM_015141.4(GPD1L):c.247G>A (p.Glu83Lys) rs72552292 0.00018
NM_015141.4(GPD1L):c.467A>G (p.Asn156Ser) rs139494055 0.00012
NM_015141.4(GPD1L):c.839C>T (p.Ala280Val) rs72552291 0.00011
NM_015141.4(GPD1L):c.870G>T (p.Glu290Asp) rs751812984 0.00008
NM_015141.4(GPD1L):c.1004G>A (p.Arg335Lys) rs369439723 0.00006
NM_015141.4(GPD1L):c.261T>A (p.Asp87Glu) rs368838349 0.00006
NM_015141.4(GPD1L):c.658C>T (p.Arg220Cys) rs72546647 0.00006
NM_015141.4(GPD1L):c.817C>T (p.Arg273Cys) rs72552294 0.00004
NM_015141.4(GPD1L):c.505+2T>G rs943929226 0.00003
NM_015141.4(GPD1L):c.547C>G (p.Leu183Val) rs1376727184 0.00003
NM_015141.4(GPD1L):c.775G>A (p.Gly259Arg) rs146477959 0.00003
NM_015141.4(GPD1L):c.158C>G (p.Thr53Arg) rs1053382446 0.00002
NM_015141.4(GPD1L):c.812G>A (p.Arg271Gln) rs1042900556 0.00002
NM_015141.4(GPD1L):c.838G>A (p.Ala280Thr) rs764691105 0.00002
NM_015141.4(GPD1L):c.1009G>C (p.Val337Leu) rs766273195 0.00001
NM_015141.4(GPD1L):c.1019T>C (p.Met340Thr) rs751063902 0.00001
NM_015141.4(GPD1L):c.232A>G (p.Met78Val) rs762018216 0.00001
NM_015141.4(GPD1L):c.298A>G (p.Ile100Val) rs771610382 0.00001
NM_015141.4(GPD1L):c.318G>C (p.Glu106Asp) rs1700699957 0.00001
NM_015141.4(GPD1L):c.334C>T (p.Pro112Ser) rs762262112 0.00001
NM_015141.4(GPD1L):c.344C>T (p.Ala115Val) rs765497074 0.00001
NM_015141.4(GPD1L):c.376del (p.Glu126fs) rs761698828 0.00001
NM_015141.4(GPD1L):c.385G>A (p.Glu129Lys) rs751477655 0.00001
NM_015141.4(GPD1L):c.415C>T (p.Arg139Cys) rs771369026 0.00001
NM_015141.4(GPD1L):c.416G>A (p.Arg139His) rs775043567 0.00001
NM_015141.4(GPD1L):c.475G>A (p.Ala159Thr) rs751567318 0.00001
NM_015141.4(GPD1L):c.482A>G (p.Glu161Gly) rs754861753 0.00001
NM_015141.4(GPD1L):c.505G>A (p.Gly169Ser) rs1446434571 0.00001
NM_015141.4(GPD1L):c.526G>A (p.Gly176Ser) rs1443878552 0.00001
NM_015141.4(GPD1L):c.577G>A (p.Val193Ile) rs1237495167 0.00001
NM_015141.4(GPD1L):c.652G>A (p.Gly218Ser) rs559530222 0.00001
NM_015141.4(GPD1L):c.671A>G (p.Asn224Ser) rs1332344958 0.00001
NM_015141.4(GPD1L):c.685G>A (p.Val229Ile) rs757614405 0.00001
NM_015141.4(GPD1L):c.692G>A (p.Arg231His) rs869025436 0.00001
NM_015141.4(GPD1L):c.818G>A (p.Arg273His) rs774028756 0.00001
NM_015141.4(GPD1L):c.829G>C (p.Glu277Gln) rs775843493 0.00001
NM_015141.4(GPD1L):c.832G>T (p.Ala278Ser) rs900845107 0.00001
NM_015141.4(GPD1L):c.878T>C (p.Met293Thr) rs188138719 0.00001
NM_015141.4(GPD1L):c.890A>G (p.Gln297Arg) rs1358056076 0.00001
NM_015141.4(GPD1L):c.905C>T (p.Pro302Leu) rs1409253059 0.00001
NM_015141.4(GPD1L):c.944A>G (p.Lys315Arg) rs1559583375 0.00001
NM_015141.4(GPD1L):c.947G>C (p.Gly316Ala) rs786204216 0.00001
NM_015141.4(GPD1L):c.959A>G (p.Lys320Arg) rs769123169 0.00001
NM_015141.4(GPD1L):c.977C>A (p.Ala326Glu) rs774304068 0.00001
NM_015141.4(GPD1L):c.987G>T (p.Gln329His) rs767661465 0.00001
NM_015141.4(GPD1L):c.997G>A (p.Glu333Lys) rs201799095 0.00001
NC_000003.11:g.(?_32148194)_(32207412_?)dup
NM_015141.4(GPD1L):c.*1del (p.Ter352=) rs2125501560
NM_015141.4(GPD1L):c.*2347CT[1] rs537616228
NM_015141.4(GPD1L):c.1001G>A (p.Ser334Asn) rs1701139581
NM_015141.4(GPD1L):c.1021T>G (p.Leu341Val) rs1344615515
NM_015141.4(GPD1L):c.1025C>G (p.Ser342Cys) rs1553663710
NM_015141.4(GPD1L):c.1027T>G (p.Cys343Gly)
NM_015141.4(GPD1L):c.1028G>A (p.Cys343Tyr)
NM_015141.4(GPD1L):c.119T>G (p.Met40Arg) rs1700538814
NM_015141.4(GPD1L):c.121T>A (p.Trp41Arg)
NM_015141.4(GPD1L):c.134A>C (p.Glu45Ala) rs934971247
NM_015141.4(GPD1L):c.179A>G (p.His60Arg) rs1700539904
NM_015141.4(GPD1L):c.215C>T (p.Pro72Leu) rs1559573147
NM_015141.4(GPD1L):c.236C>G (p.Ser79Ter) rs765805642
NM_015141.4(GPD1L):c.238A>G (p.Asn80Asp) rs1553659648
NM_015141.4(GPD1L):c.245G>T (p.Ser82Ile) rs878855004
NM_015141.4(GPD1L):c.257A>G (p.Gln86Arg) rs755240955
NM_015141.4(GPD1L):c.261_262insCTT (p.Asp87_Ala88insLeu)
NM_015141.4(GPD1L):c.262G>A (p.Ala88Thr) rs1700699304
NM_015141.4(GPD1L):c.286C>T (p.Pro96Ser)
NM_015141.4(GPD1L):c.287C>T (p.Pro96Leu) rs1700699549
NM_015141.4(GPD1L):c.293A>G (p.Gln98Arg) rs745770005
NM_015141.4(GPD1L):c.298A>C (p.Ile100Leu)
NM_015141.4(GPD1L):c.320T>C (p.Ile107Thr) rs374305150
NM_015141.4(GPD1L):c.322A>T (p.Thr108Ser)
NM_015141.4(GPD1L):c.338A>G (p.Lys113Arg) rs2125485247
NM_015141.4(GPD1L):c.359T>A (p.Leu120His)
NM_015141.4(GPD1L):c.372A>G (p.Ile124Met) rs182826539
NM_015141.4(GPD1L):c.376G>A (p.Glu126Lys) rs1700722155
NM_015141.4(GPD1L):c.382C>T (p.Pro128Ser)
NM_015141.4(GPD1L):c.387G>C (p.Glu129Asp) rs1220054300
NM_015141.4(GPD1L):c.391C>A (p.Leu131Met) rs1700722701
NM_015141.4(GPD1L):c.400A>T (p.Ile134Phe)
NM_015141.4(GPD1L):c.414C>G (p.Ile138Met)
NM_015141.4(GPD1L):c.426G>A (p.Met142Ile)
NM_015141.4(GPD1L):c.428G>C (p.Gly143Ala) rs989262156
NM_015141.4(GPD1L):c.451G>A (p.Gly151Arg)
NM_015141.4(GPD1L):c.48G>A (p.Trp16Ter)
NM_015141.4(GPD1L):c.491G>A (p.Cys164Tyr) rs1471870007
NM_015141.4(GPD1L):c.493G>A (p.Glu165Lys)
NM_015141.4(GPD1L):c.501_505+8del
NM_015141.4(GPD1L):c.503T>C (p.Ile168Thr) rs1700725665
NM_015141.4(GPD1L):c.504C>T (p.Ile168=)
NM_015141.4(GPD1L):c.529C>T (p.Leu177Phe)
NM_015141.4(GPD1L):c.560A>G (p.Asn187Ser) rs951273802
NM_015141.4(GPD1L):c.565C>T (p.Arg189Ter)
NM_015141.4(GPD1L):c.566G>A (p.Arg189Gln)
NM_015141.4(GPD1L):c.58G>A (p.Val20Ile)
NM_015141.4(GPD1L):c.590A>C (p.Asp197Ala) rs1700832089
NM_015141.4(GPD1L):c.59T>C (p.Val20Ala)
NM_015141.4(GPD1L):c.607G>C (p.Gly203Arg)
NM_015141.4(GPD1L):c.608G>C (p.Gly203Ala) rs1559579249
NM_015141.4(GPD1L):c.619-9C>A rs2044880
NM_015141.4(GPD1L):c.624C>G (p.Ile208Met) rs267599768
NM_015141.4(GPD1L):c.625G>A (p.Val209Ile)
NM_015141.4(GPD1L):c.638C>G (p.Ala213Gly)
NM_015141.4(GPD1L):c.653G>C (p.Gly218Ala) rs148361833
NM_015141.4(GPD1L):c.679G>A (p.Ala227Thr)
NM_015141.4(GPD1L):c.680C>T (p.Ala227Val) rs980532320
NM_015141.4(GPD1L):c.703A>G (p.Met235Val) rs1254946428
NM_015141.4(GPD1L):c.739G>A (p.Gly247Ser) rs766090919
NM_015141.4(GPD1L):c.745G>A (p.Val249Met) rs148464224
NM_015141.4(GPD1L):c.745G>C (p.Val249Leu) rs148464224
NM_015141.4(GPD1L):c.754G>A (p.Ala252Thr) rs767832404
NM_015141.4(GPD1L):c.763C>G (p.Leu255Val)
NM_015141.4(GPD1L):c.784G>A (p.Asp262Asn)
NM_015141.4(GPD1L):c.805G>A (p.Gly269Arg) rs786205268
NM_015141.4(GPD1L):c.821G>T (p.Arg274Met) rs2125497965
NM_015141.4(GPD1L):c.853-2A>G rs766733448
NM_015141.4(GPD1L):c.914CTG[1] (p.Ala306del) rs2125498333
NM_015141.4(GPD1L):c.917_918delinsGG (p.Ala306Gly) rs1701049565
NM_015141.4(GPD1L):c.928C>A (p.Arg310Ser) rs1216770303
NM_015141.4(GPD1L):c.929G>A (p.Arg310His)
NM_015141.4(GPD1L):c.929G>T (p.Arg310Leu)
NM_015141.4(GPD1L):c.99A>T (p.Lys33Asn)

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