ClinVar Miner

List of variants in gene PAFAH1B1 studied for Lissencephaly 1

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Total variants: 110
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HGVS dbSNP
NC_000017.11:g.(?_2638238)_(2638345_?)del
NC_000017.11:g.(?_2680139)_(2681852_?)del
NM_000430.3(PAFAH1B1):c.*17C>T rs6628
NM_000430.3(PAFAH1B1):c.*3G>T rs113994197
NM_000430.3(PAFAH1B1):c.1002+1G>A rs113994203
NM_000430.3(PAFAH1B1):c.1002+5G>A rs587784235
NM_000430.3(PAFAH1B1):c.1003-30_1032del rs1555527743
NM_000430.3(PAFAH1B1):c.1009C>G (p.His337Asp) rs587784236
NM_000430.3(PAFAH1B1):c.1009C>T (p.His337Tyr) rs587784236
NM_000430.3(PAFAH1B1):c.1018_1019insT (p.Trp340Leufs) rs797045855
NM_000430.3(PAFAH1B1):c.1024_1031del (p.Arg342Serfs) rs587784237
NM_000430.3(PAFAH1B1):c.1050delG (p.Lys351Serfs) rs113994200
NM_000430.3(PAFAH1B1):c.1050dupG (p.Lys351Glufs) rs113994200
NM_000430.3(PAFAH1B1):c.1063del (p.Ser355Valfs) rs587784238
NM_000430.3(PAFAH1B1):c.1064G>A (p.Ser355Asn) rs587784239
NM_000430.3(PAFAH1B1):c.1100del (p.Tyr367Serfs) rs587784240
NM_000430.3(PAFAH1B1):c.1111C>T (p.Arg371Ter) rs587784241
NM_000430.3(PAFAH1B1):c.1135C>T (p.His379Tyr) rs587784242
NM_000430.3(PAFAH1B1):c.1159+1G>A rs1057520515
NM_000430.3(PAFAH1B1):c.1159+2T>A rs587784243
NM_000430.3(PAFAH1B1):c.1159G>T (p.Asp387Tyr) rs587784244
NM_000430.3(PAFAH1B1):c.1165C>T (p.His389Tyr) rs587784245
NM_000430.3(PAFAH1B1):c.118-14_118-10delTTTAT rs1555526298
NM_000430.3(PAFAH1B1):c.1188C>T (p.Val396=) rs587784246
NM_000430.3(PAFAH1B1):c.1190C>T (p.Thr397Ile) rs1131691295
NM_000430.3(PAFAH1B1):c.1193G>A (p.Gly398Asp) rs587784247
NM_000430.3(PAFAH1B1):c.1196G>C (p.Ser399Thr) rs587784248
NM_000430.3(PAFAH1B1):c.1201G>C (p.Asp401His) rs587784249
NM_000430.3(PAFAH1B1):c.121G>A (p.Glu41Lys) rs587784250
NM_000430.3(PAFAH1B1):c.1233A>C (p.Ter411Cys) rs587784251
NM_000430.3(PAFAH1B1):c.136_137del (p.Lys46Valfs) rs587784252
NM_000430.3(PAFAH1B1):c.152del (p.Leu51Trpfs) rs587784253
NM_000430.3(PAFAH1B1):c.162delA (p.Lys54Asnfs) rs113994198
NM_000430.3(PAFAH1B1):c.162dupA (p.Trp55Metfs) rs113994198
NM_000430.3(PAFAH1B1):c.163T>A (p.Trp55Arg) rs587784254
NM_000430.3(PAFAH1B1):c.177delT (p.Arg60Aspfs) rs1555526309
NM_000430.3(PAFAH1B1):c.190_192+5dup rs797045857
NM_000430.3(PAFAH1B1):c.192+15T>C rs587784255
NM_000430.3(PAFAH1B1):c.192+1G>A rs587784256
NM_000430.3(PAFAH1B1):c.192+1G>T rs587784256
NM_000430.3(PAFAH1B1):c.192G>C (p.Lys64Asn) rs587784257
NM_000430.3(PAFAH1B1):c.22C>T (p.Arg8Ter) rs121434489
NM_000430.3(PAFAH1B1):c.265C>T (p.Arg89Ter) rs587784258
NM_000430.3(PAFAH1B1):c.288_289dup (p.Arg97Profs) rs797045858
NM_000430.3(PAFAH1B1):c.305dupA (p.Tyr102Terfs) rs587784259
NM_000430.3(PAFAH1B1):c.33-3C>T rs587784260
NM_000430.3(PAFAH1B1):c.347dup (p.His117Profs) rs797045859
NM_000430.3(PAFAH1B1):c.371T>A (p.Val124Asp) rs587784261
NM_000430.3(PAFAH1B1):c.37C>T (p.Arg13Ter) rs587784262
NM_000430.3(PAFAH1B1):c.386A>T (p.Asp129Val) rs587784263
NM_000430.3(PAFAH1B1):c.399+1G>A rs587784264
NM_000430.3(PAFAH1B1):c.3G>A (p.Met1Ile) rs587784265
NM_000430.3(PAFAH1B1):c.405G>A (p.Trp135Ter) rs587784266
NM_000430.3(PAFAH1B1):c.430C>T (p.Arg144Ter) rs587784267
NM_000430.3(PAFAH1B1):c.441dupA (p.Gly148Argfs) rs797045861
NM_000430.3(PAFAH1B1):c.446A>G (p.His149Arg) rs121434482
NM_000430.3(PAFAH1B1):c.455_456del (p.Ser152Cysfs) rs587784268
NM_000430.3(PAFAH1B1):c.460C>T (p.Gln154Ter) rs587784269
NM_000430.3(PAFAH1B1):c.484G>A (p.Gly162Ser) rs121434487
NM_000430.3(PAFAH1B1):c.503G>A (p.Cys168Tyr) rs200390886
NM_000430.3(PAFAH1B1):c.514dup (p.Met172Asnfs) rs1555526718
NM_000430.3(PAFAH1B1):c.523A>T (p.Lys175Ter) rs797045061
NM_000430.3(PAFAH1B1):c.524_528del (p.Lys175Metfs) rs587784270
NM_000430.3(PAFAH1B1):c.537_538insT (p.Gln180Serfs) rs587784271
NM_000430.3(PAFAH1B1):c.537del (p.Gln180Argfs) rs587784271
NM_000430.3(PAFAH1B1):c.568+1G>A rs1555526733
NM_000430.3(PAFAH1B1):c.569-10T>C rs113994202
NM_000430.3(PAFAH1B1):c.569-3delT rs797045863
NM_000430.3(PAFAH1B1):c.56T>G (p.Leu19Arg) rs587784272
NM_000430.3(PAFAH1B1):c.632C>G (p.Ser211Ter) rs587784273
NM_000430.3(PAFAH1B1):c.644_651del (p.Thr215Asnfs) rs587784274
NM_000430.3(PAFAH1B1):c.647_648del (p.Ile216Lysfs) rs587784275
NM_000430.3(PAFAH1B1):c.657G>A (p.Trp219Ter) rs587784276
NM_000430.3(PAFAH1B1):c.658del (p.Glu220Lysfs) rs587784277
NM_000430.3(PAFAH1B1):c.664C>T (p.Gln222Ter) rs587784278
NM_000430.3(PAFAH1B1):c.667_668insA (p.Thr223Asnfs) rs797045864
NM_000430.3(PAFAH1B1):c.671+4A>G rs587784279
NM_000430.3(PAFAH1B1):c.671+5G>A rs587784280
NM_000430.3(PAFAH1B1):c.671G>A (p.Gly224Asp) rs587784281
NM_000430.3(PAFAH1B1):c.675C>G (p.Tyr225Ter) rs587784282
NM_000430.3(PAFAH1B1):c.687A>T (p.Thr229=) rs587784283
NM_000430.3(PAFAH1B1):c.703_704delGA (p.Glu235Metfs) rs797045865
NM_000430.3(PAFAH1B1):c.716dupT (p.Met239Ilefs) rs587784284
NM_000430.3(PAFAH1B1):c.728_732dup (p.Asp245Ilefs) rs797045867
NM_000430.3(PAFAH1B1):c.72T>G (p.Tyr24Ter) rs587784285
NM_000430.3(PAFAH1B1):c.72_73insAT (p.Glu25Metfs) rs797045866
NM_000430.3(PAFAH1B1):c.730C>T (p.Gln244Ter) rs587784286
NM_000430.3(PAFAH1B1):c.751A>C (p.Ser251Arg) rs587784287
NM_000430.3(PAFAH1B1):c.770_772delCTGinsTGACCCA (p.Thr257Metfs) rs797045868
NM_000430.3(PAFAH1B1):c.771_772del (p.Val258Alafs) rs797045869
NM_000430.3(PAFAH1B1):c.817C>T (p.Arg273Ter) rs121434483
NM_000430.3(PAFAH1B1):c.818G>A (p.Arg273Gln) rs794729199
NM_000430.3(PAFAH1B1):c.829_830insC (p.His277Profs) rs797045870
NM_000430.3(PAFAH1B1):c.830A>C (p.His277Pro) rs121434490
NM_000430.3(PAFAH1B1):c.841T>C (p.Cys281Arg) rs587784288
NM_000430.3(PAFAH1B1):c.84T>G (p.Tyr28Ter) rs369259961
NM_000430.3(PAFAH1B1):c.851G>A (p.Trp284Ter) rs587784289
NM_000430.3(PAFAH1B1):c.852G>A (p.Trp284Ter)
NM_000430.3(PAFAH1B1):c.899A>G (p.Glu300Gly) rs1555527149
NM_000430.3(PAFAH1B1):c.900+1G>A rs587784290
NM_000430.3(PAFAH1B1):c.900G>A (p.Glu300=) rs587784291
NM_000430.3(PAFAH1B1):c.900G>C (p.Glu300Asp) rs587784291
NM_000430.3(PAFAH1B1):c.910del (p.Ser304Valfs) rs587784292
NM_000430.3(PAFAH1B1):c.911del (p.Ser304Metfs) rs797045871
NM_000430.3(PAFAH1B1):c.92T>C (p.Phe31Ser) rs121434486
NM_000430.3(PAFAH1B1):c.933_934insG (p.Leu312Alafs) rs797045872
NM_000430.3(PAFAH1B1):c.938C>T (p.Ser313Phe) rs587784293
NM_000430.3(PAFAH1B1):c.949G>C (p.Asp317His) rs121434485
NM_000430.3(PAFAH1B1):c.965T>G (p.Met322Arg) rs587784294
NM_000430.3(PAFAH1B1):c.991_1002+10del

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