ClinVar Miner

List of variants in gene GPD1L reported by Ambry Genetics

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Gene type:
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Total variants: 136
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HGVS dbSNP gnomAD frequency
NM_015141.4(GPD1L):c.408C>T (p.Asp136=) rs9835387 0.17620
NM_015141.4(GPD1L):c.396G>A (p.Lys132=) rs61741845 0.00618
NM_015141.4(GPD1L):c.573C>G (p.Thr191=) rs72558073 0.00545
NM_015141.4(GPD1L):c.81T>C (p.Asn27=) rs34278284 0.00515
NM_015141.4(GPD1L):c.370A>G (p.Ile124Val) rs72552293 0.00291
NM_015141.4(GPD1L):c.981G>A (p.Val327=) rs144877595 0.00195
NM_015141.4(GPD1L):c.659G>A (p.Arg220His) rs72546648 0.00130
NM_015141.4(GPD1L):c.465C>T (p.Ala155=) rs113645050 0.00121
NM_015141.4(GPD1L):c.828C>T (p.Ala276=) rs200392121 0.00055
NM_015141.4(GPD1L):c.520G>A (p.Glu174Lys) rs112122950 0.00034
NM_015141.4(GPD1L):c.813G>T (p.Arg271=) rs35464343 0.00031
NM_015141.4(GPD1L):c.459C>T (p.Asn153=) rs375532052 0.00019
NM_015141.4(GPD1L):c.467A>G (p.Asn156Ser) rs139494055 0.00019
NM_015141.4(GPD1L):c.247G>A (p.Glu83Lys) rs72552292 0.00018
NM_015141.4(GPD1L):c.1038C>T (p.Ser346=) rs147092668 0.00016
NM_015141.4(GPD1L):c.445C>T (p.Leu149=) rs146738300 0.00015
NM_015141.4(GPD1L):c.837C>T (p.Phe279=) rs376724853 0.00013
NM_015141.4(GPD1L):c.192A>G (p.Lys64=) rs72546651 0.00011
NM_015141.4(GPD1L):c.839C>T (p.Ala280Val) rs72552291 0.00011
NM_015141.4(GPD1L):c.876G>A (p.Glu292=) rs72546642 0.00010
NM_015141.4(GPD1L):c.555T>A (p.Thr185=) rs151196281 0.00009
NM_015141.4(GPD1L):c.897C>T (p.Leu299=) rs192905901 0.00009
NM_015141.4(GPD1L):c.906G>A (p.Pro302=) rs200045526 0.00009
NM_015141.4(GPD1L):c.870G>T (p.Glu290Asp) rs751812984 0.00008
NM_015141.4(GPD1L):c.951A>G (p.Leu317=) rs746611202 0.00008
NM_015141.4(GPD1L):c.1004G>A (p.Arg335Lys) rs369439723 0.00006
NM_015141.4(GPD1L):c.651C>T (p.Asp217=) rs149641866 0.00006
NM_015141.4(GPD1L):c.658C>T (p.Arg220Cys) rs72546647 0.00006
NM_015141.4(GPD1L):c.996C>T (p.Tyr332=) rs149423659 0.00006
NM_015141.4(GPD1L):c.246C>T (p.Ser82=) rs377378878 0.00004
NM_015141.4(GPD1L):c.817C>T (p.Arg273Cys) rs72552294 0.00004
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.132A>G (p.Glu44=) rs200273033 0.00002
NM_015141.4(GPD1L):c.158C>G (p.Thr53Arg) rs1053382446 0.00002
NM_015141.4(GPD1L):c.54A>G (p.Ser18=) rs147773109 0.00002
NM_015141.4(GPD1L):c.691C>T (p.Arg231Cys) rs143486835 0.00002
NM_015141.4(GPD1L):c.774C>T (p.Cys258=) rs753955088 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.232A>G (p.Met78Val) rs762018216 0.00001
NM_015141.4(GPD1L):c.291C>T (p.His97=) rs1007252272 0.00001
NM_015141.4(GPD1L):c.298A>G (p.Ile100Val) rs771610382 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.383C>T (p.Pro128Leu) rs201900323 0.00001
NM_015141.4(GPD1L):c.384C>T (p.Pro128=) rs779990114 0.00001
NM_015141.4(GPD1L):c.385G>A (p.Glu129Lys) rs751477655 0.00001
NM_015141.4(GPD1L):c.416G>A (p.Arg139His) rs775043567 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.692G>A (p.Arg231His) rs869025436 0.00001
NM_015141.4(GPD1L):c.810G>A (p.Gly270=) rs945877751 0.00001
NM_015141.4(GPD1L):c.822G>A (p.Arg274=) rs759180118 0.00001
NM_015141.4(GPD1L):c.878T>C (p.Met293Thr) rs188138719 0.00001
NM_015141.4(GPD1L):c.905C>T (p.Pro302Leu) rs1409253059 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
NM_015141.4(GPD1L):c.1008A>T (p.Pro336=)
NM_015141.4(GPD1L):c.1020G>A (p.Met340Ile)
NM_015141.4(GPD1L):c.1025C>G (p.Ser342Cys) rs1553663710
NM_015141.4(GPD1L):c.1028G>A (p.Cys343Tyr)
NM_015141.4(GPD1L):c.1028G>C (p.Cys343Ser)
NM_015141.4(GPD1L):c.1035G>T (p.Gln345His) rs780760018
NM_015141.4(GPD1L):c.104C>G (p.Ala35Gly)
NM_015141.4(GPD1L):c.1053A>G (p.Thr351=)
NM_015141.4(GPD1L):c.105C>T (p.Ala35=)
NM_015141.4(GPD1L):c.116A>G (p.Lys39Arg)
NM_015141.4(GPD1L):c.189A>G (p.Val63=)
NM_015141.4(GPD1L):c.195T>C (p.Tyr65=) rs1700540170
NM_015141.4(GPD1L):c.205C>T (p.His69Tyr)
NM_015141.4(GPD1L):c.224T>G (p.Val75Gly) rs1553658277
NM_015141.4(GPD1L):c.270G>A (p.Leu90=) rs2125485191
NM_015141.4(GPD1L):c.283A>G (p.Ile95Val)
NM_015141.4(GPD1L):c.292C>G (p.Gln98Glu)
NM_015141.4(GPD1L):c.298A>C (p.Ile100Leu)
NM_015141.4(GPD1L):c.313G>T (p.Asp105Tyr)
NM_015141.4(GPD1L):c.322A>T (p.Thr108Ser)
NM_015141.4(GPD1L):c.345G>A (p.Ala115=) rs149167213
NM_015141.4(GPD1L):c.345G>T (p.Ala115=) rs149167213
NM_015141.4(GPD1L):c.356C>A (p.Thr119Asn)
NM_015141.4(GPD1L):c.358C>T (p.Leu120Phe)
NM_015141.4(GPD1L):c.366+5C>T rs1553659674
NM_015141.4(GPD1L):c.391C>A (p.Leu131Met) rs1700722701
NM_015141.4(GPD1L):c.400A>G (p.Ile134Val)
NM_015141.4(GPD1L):c.400A>T (p.Ile134Phe)
NM_015141.4(GPD1L):c.411C>A (p.Ile137=)
NM_015141.4(GPD1L):c.416G>T (p.Arg139Leu)
NM_015141.4(GPD1L):c.454G>A (p.Ala152Thr)
NM_015141.4(GPD1L):c.479C>T (p.Ala160Val)
NM_015141.4(GPD1L):c.48-4G>A
NM_015141.4(GPD1L):c.480A>C (p.Ala160=)
NM_015141.4(GPD1L):c.504C>T (p.Ile168=)
NM_015141.4(GPD1L):c.506-3C>T
NM_015141.4(GPD1L):c.50G>C (p.Gly17Ala)
NM_015141.4(GPD1L):c.518T>C (p.Met173Thr) rs886058332
NM_015141.4(GPD1L):c.528C>A (p.Gly176=)
NM_015141.4(GPD1L):c.535T>C (p.Phe179Leu)
NM_015141.4(GPD1L):c.544C>T (p.Leu182Phe)
NM_015141.4(GPD1L):c.560A>G (p.Asn187Ser) rs951273802
NM_015141.4(GPD1L):c.570T>C (p.Ile190=)
NM_015141.4(GPD1L):c.573C>T (p.Thr191=)
NM_015141.4(GPD1L):c.585T>G (p.Asp195Glu)
NM_015141.4(GPD1L):c.58G>A (p.Val20Ile)
NM_015141.4(GPD1L):c.603C>G (p.Leu201=)
NM_015141.4(GPD1L):c.611C>G (p.Ala204Gly)
NM_015141.4(GPD1L):c.612G>A (p.Ala204=)
NM_015141.4(GPD1L):c.625G>A (p.Val209Ile)
NM_015141.4(GPD1L):c.631G>A (p.Val211Met)
NM_015141.4(GPD1L):c.639T>G (p.Ala213=)
NM_015141.4(GPD1L):c.648C>T (p.Cys216=)
NM_015141.4(GPD1L):c.668A>G (p.Asp223Gly) rs1553662705
NM_015141.4(GPD1L):c.674C>T (p.Thr225Ile)
NM_015141.4(GPD1L):c.700C>T (p.Leu234Phe)
NM_015141.4(GPD1L):c.740G>A (p.Gly247Asp)
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.746T>C (p.Val249Ala)
NM_015141.4(GPD1L):c.763C>G (p.Leu255Val)
NM_015141.4(GPD1L):c.783C>T (p.Ala261=)
NM_015141.4(GPD1L):c.813G>A (p.Arg271=) rs35464343
NM_015141.4(GPD1L):c.827C>T (p.Ala276Val)
NM_015141.4(GPD1L):c.837C>G (p.Phe279Leu)
NM_015141.4(GPD1L):c.853-2A>G rs766733448
NM_015141.4(GPD1L):c.857T>C (p.Ile286Thr)
NM_015141.4(GPD1L):c.861A>G (p.Glu287=)
NM_015141.4(GPD1L):c.911C>T (p.Thr304Ile)
NM_015141.4(GPD1L):c.917_918delinsGG (p.Ala306Gly) rs1701049565
NM_015141.4(GPD1L):c.929G>A (p.Arg310His)
NM_015141.4(GPD1L):c.936C>G (p.Leu312=)
NM_015141.4(GPD1L):c.967T>C (p.Leu323=)
NM_015141.4(GPD1L):c.978A>C (p.Ala326=) rs1553663699
NM_015141.4(GPD1L):c.995A>C (p.Tyr332Ser)

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