ClinVar Miner

List of variants in gene PAFAH1B1 reported as pathogenic

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Gene type:
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Total variants: 98
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HGVS dbSNP
GRCh37/hg19 17p13.3(chr17:2496180-2498568)x1
GRCh37/hg19 17p13.3(chr17:2497629-2585485)x1
GRCh38/hg38 17p13.3(chr17:2592886-2609006)x1
NM_000430.4(PAFAH1B1):c.1002+1G>A rs113994203
NM_000430.4(PAFAH1B1):c.1002+5G>A rs587784235
NM_000430.4(PAFAH1B1):c.1003-30_1032del rs1555527743
NM_000430.4(PAFAH1B1):c.1009C>T (p.His337Tyr) rs587784236
NM_000430.4(PAFAH1B1):c.1018dup (p.Trp340fs) rs797045855
NM_000430.4(PAFAH1B1):c.1024_1031del (p.Arg342fs) rs587784237
NM_000430.4(PAFAH1B1):c.1050del (p.Lys351fs) rs113994200
NM_000430.4(PAFAH1B1):c.1050dup (p.Lys351fs) rs113994200
NM_000430.4(PAFAH1B1):c.1063del (p.Ser355fs) rs587784238
NM_000430.4(PAFAH1B1):c.1064G>A (p.Ser355Asn) rs587784239
NM_000430.4(PAFAH1B1):c.1100del (p.Tyr367fs) rs587784240
NM_000430.4(PAFAH1B1):c.1111C>T (p.Arg371Ter) rs587784241
NM_000430.4(PAFAH1B1):c.1135C>T (p.His379Tyr) rs587784242
NM_000430.4(PAFAH1B1):c.1159+1G>A rs1057520515
NM_000430.4(PAFAH1B1):c.1159+2T>A rs587784243
NM_000430.4(PAFAH1B1):c.1159+5del rs886041664
NM_000430.4(PAFAH1B1):c.1159G>T (p.Asp387Tyr) rs587784244
NM_000430.4(PAFAH1B1):c.1165C>T (p.His389Tyr) rs587784245
NM_000430.4(PAFAH1B1):c.1196G>C (p.Ser399Thr) rs587784248
NM_000430.4(PAFAH1B1):c.1201G>C (p.Asp401His) rs587784249
NM_000430.4(PAFAH1B1):c.1233A>C (p.Ter411Cys) rs587784251
NM_000430.4(PAFAH1B1):c.136_137del (p.Lys46fs) rs587784252
NM_000430.4(PAFAH1B1):c.152del (p.Leu51fs) rs587784253
NM_000430.4(PAFAH1B1):c.162del (p.Lys54fs) rs113994198
NM_000430.4(PAFAH1B1):c.162dup (p.Trp55fs) rs113994198
NM_000430.4(PAFAH1B1):c.163T>A (p.Trp55Arg) rs587784254
NM_000430.4(PAFAH1B1):c.177del (p.Arg60fs) rs1555526309
NM_000430.4(PAFAH1B1):c.190_192+5dup rs797045857
NM_000430.4(PAFAH1B1):c.192+1G>A rs587784256
NM_000430.4(PAFAH1B1):c.192+1G>T rs587784256
NM_000430.4(PAFAH1B1):c.192G>C (p.Lys64Asn) rs587784257
NM_000430.4(PAFAH1B1):c.22C>T (p.Arg8Ter) rs121434489
NM_000430.4(PAFAH1B1):c.265C>T (p.Arg89Ter) rs587784258
NM_000430.4(PAFAH1B1):c.288_289dup (p.Arg97fs) rs797045858
NM_000430.4(PAFAH1B1):c.305dup (p.Tyr102Ter) rs587784259
NM_000430.4(PAFAH1B1):c.33-3C>T rs587784260
NM_000430.4(PAFAH1B1):c.337C>T (p.Arg113Ter) rs886041341
NM_000430.4(PAFAH1B1):c.347dup (p.His117fs) rs797045859
NM_000430.4(PAFAH1B1):c.371T>A (p.Val124Asp) rs587784261
NM_000430.4(PAFAH1B1):c.37C>T (p.Arg13Ter) rs587784262
NM_000430.4(PAFAH1B1):c.386A>T (p.Asp129Val) rs587784263
NM_000430.4(PAFAH1B1):c.399+1G>A rs587784264
NM_000430.4(PAFAH1B1):c.3G>A (p.Met1Ile) rs587784265
NM_000430.4(PAFAH1B1):c.405G>A (p.Trp135Ter) rs587784266
NM_000430.4(PAFAH1B1):c.430C>T (p.Arg144Ter) rs587784267
NM_000430.4(PAFAH1B1):c.441dup (p.Gly148fs) rs797045861
NM_000430.4(PAFAH1B1):c.446A>G (p.His149Arg) rs121434482
NM_000430.4(PAFAH1B1):c.453_454CT[1] (p.Ser152fs) rs587784268
NM_000430.4(PAFAH1B1):c.460C>T (p.Gln154Ter) rs587784269
NM_000430.4(PAFAH1B1):c.484G>A (p.Gly162Ser) rs121434487
NM_000430.4(PAFAH1B1):c.505T>C (p.Ser169Pro) rs121434484
NM_000430.4(PAFAH1B1):c.514dup (p.Met172fs) rs1555526718
NM_000430.4(PAFAH1B1):c.523A>T (p.Lys175Ter) rs797045061
NM_000430.4(PAFAH1B1):c.524_528del (p.Lys175fs) rs587784270
NM_000430.4(PAFAH1B1):c.537del (p.Gln180fs) rs587784271
NM_000430.4(PAFAH1B1):c.537dup (p.Gln180fs) rs587784271
NM_000430.4(PAFAH1B1):c.568+1G>A rs1555526733
NM_000430.4(PAFAH1B1):c.569-10T>C rs113994202
NM_000430.4(PAFAH1B1):c.56T>G (p.Leu19Arg) rs587784272
NM_000430.4(PAFAH1B1):c.62C>G (p.Ser21Ter) rs1567554574
NM_000430.4(PAFAH1B1):c.632C>G (p.Ser211Ter) rs587784273
NM_000430.4(PAFAH1B1):c.644_651del (p.Thr215fs) rs587784274
NM_000430.4(PAFAH1B1):c.645_646TA[1] (p.Ile216fs) rs587784275
NM_000430.4(PAFAH1B1):c.657G>A (p.Trp219Ter) rs587784276
NM_000430.4(PAFAH1B1):c.658del (p.Glu220fs) rs587784277
NM_000430.4(PAFAH1B1):c.664C>T (p.Gln222Ter) rs587784278
NM_000430.4(PAFAH1B1):c.667dup (p.Thr223fs) rs797045864
NM_000430.4(PAFAH1B1):c.671G>A (p.Gly224Asp) rs587784281
NM_000430.4(PAFAH1B1):c.675C>G (p.Tyr225Ter) rs587784282
NM_000430.4(PAFAH1B1):c.701_702GA[1] (p.Glu235fs) rs797045865
NM_000430.4(PAFAH1B1):c.716dup (p.Met239fs) rs587784284
NM_000430.4(PAFAH1B1):c.71_72dup (p.Glu25fs) rs797045866
NM_000430.4(PAFAH1B1):c.722G>C (p.Arg241Pro) rs121434488
NM_000430.4(PAFAH1B1):c.728_732dup (p.Asp245fs) rs797045867
NM_000430.4(PAFAH1B1):c.72T>G (p.Tyr24Ter) rs587784285
NM_000430.4(PAFAH1B1):c.730C>T (p.Gln244Ter) rs587784286
NM_000430.4(PAFAH1B1):c.770_772delinsTGACCCA (p.Thr257fs) rs797045868
NM_000430.4(PAFAH1B1):c.771_772TG[1] (p.Val258fs) rs797045869
NM_000430.4(PAFAH1B1):c.817C>T (p.Arg273Ter) rs121434483
NM_000430.4(PAFAH1B1):c.826G>T (p.Glu276Ter) rs886039665
NM_000430.4(PAFAH1B1):c.829dup (p.His277fs) rs797045870
NM_000430.4(PAFAH1B1):c.830A>C (p.His277Pro) rs121434490
NM_000430.4(PAFAH1B1):c.841T>C (p.Cys281Arg) rs587784288
NM_000430.4(PAFAH1B1):c.84T>G (p.Tyr28Ter) rs369259961
NM_000430.4(PAFAH1B1):c.851G>A (p.Trp284Ter) rs587784289
NM_000430.4(PAFAH1B1):c.852G>A (p.Trp284Ter) rs1567559851
NM_000430.4(PAFAH1B1):c.900+1G>A rs587784290
NM_000430.4(PAFAH1B1):c.907_910del (p.Lys303fs) rs587784292
NM_000430.4(PAFAH1B1):c.910del (p.Ser304fs) rs587784292
NM_000430.4(PAFAH1B1):c.911del (p.Ser304fs) rs797045871
NM_000430.4(PAFAH1B1):c.92T>C (p.Phe31Ser) rs121434486
NM_000430.4(PAFAH1B1):c.933dup (p.Leu312fs) rs797045872
NM_000430.4(PAFAH1B1):c.949G>C (p.Asp317His) rs121434485
NM_000430.4(PAFAH1B1):c.957_961delinsATCTTAAT (p.Ile320_Lys321delinsSerTer) rs1064793990
NM_000430.4(PAFAH1B1):c.991_1002+10del rs1567561137

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