ClinVar Miner

List of variants in gene PAFAH1B1 reported as uncertain significance

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Gene type:
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Total variants: 142
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HGVS dbSNP gnomAD frequency
NM_000430.4(PAFAH1B1):c.*3627_*3628del rs58458769 0.11607
NM_000430.4(PAFAH1B1):c.*1042_*1043del rs55976318 0.00373
NM_000430.4(PAFAH1B1):c.387T>C (p.Asp129=) rs140936904 0.00052
NM_000430.4(PAFAH1B1):c.608A>G (p.Asn203Ser) rs377583144 0.00014
NM_000430.4(PAFAH1B1):c.958A>G (p.Ile320Val) rs144659773 0.00013
NM_000430.4(PAFAH1B1):c.755G>C (p.Cys252Ser) rs140360173 0.00004
NM_000430.4(PAFAH1B1):c.43A>G (p.Ile15Val) rs774411293 0.00003
NM_000430.4(PAFAH1B1):c.618T>A (p.His206Gln) rs781710874 0.00003
NM_000430.4(PAFAH1B1):c.*1056C>T rs760380019 0.00002
NM_000430.4(PAFAH1B1):c.253C>T (p.Leu85Phe) rs139434124 0.00002
NM_000430.4(PAFAH1B1):c.38G>A (p.Arg13Gln) rs374766360 0.00002
NM_000430.4(PAFAH1B1):c.569-4T>G rs765106555 0.00002
NM_000430.4(PAFAH1B1):c.794C>T (p.Thr265Ile) rs769280736 0.00002
NM_000430.4(PAFAH1B1):c.1046G>A (p.Gly349Glu) rs1480224569 0.00001
NM_000430.4(PAFAH1B1):c.1087C>T (p.Arg363Cys) rs2069359971 0.00001
NM_000430.4(PAFAH1B1):c.1130A>G (p.Asn377Ser) rs1167470350 0.00001
NM_000430.4(PAFAH1B1):c.155A>G (p.Glu52Gly) rs2069103350 0.00001
NM_000430.4(PAFAH1B1):c.192+15T>C rs587784255 0.00001
NM_000430.4(PAFAH1B1):c.566A>C (p.His189Pro) rs1030536153 0.00001
NM_000430.4(PAFAH1B1):c.570C>T (p.Gly190=) rs758682063 0.00001
NM_000430.4(PAFAH1B1):c.59G>A (p.Arg20His) rs1030300693 0.00001
NM_000430.4(PAFAH1B1):c.644C>G (p.Thr215Ser) rs770192064 0.00001
NM_000430.4(PAFAH1B1):c.646A>G (p.Ile216Val) rs555806037 0.00001
NM_000430.4(PAFAH1B1):c.844A>G (p.Ile282Val) rs752776848 0.00001
NM_000430.4(PAFAH1B1):c.987G>A (p.Met329Ile) rs1194042667 0.00001
NM_000430.4(PAFAH1B1):c.991C>A (p.Leu331Ile) rs138622703 0.00001
GRCh37/hg19 17p13.3(chr17:2494580-2538513)x3
GRCh38/hg38 17p13.3(chr17:2599570-2624929)x3
NC_000017.10:g.(?_2568646)_(2585096_?)dup
NC_000017.10:g.(?_2583438)_(2585096_?)dup
NC_000017.10:g.(?_2585003)_(2585096_?)del
NM_000430.4(PAFAH1B1):c.*1519AG[2] rs886052721
NM_000430.4(PAFAH1B1):c.*3331dup rs886052730
NM_000430.4(PAFAH1B1):c.*532G>A rs886052716
NM_000430.4(PAFAH1B1):c.-176del rs886052711
NM_000430.4(PAFAH1B1):c.-190-8934C>G rs2068526832
NM_000430.4(PAFAH1B1):c.1003-4_1003-3insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTCCTGACCTTGTGATCCGCCCGCCTCGGCCTCCCCAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGCTTTTTTGTTTTT
NM_000430.4(PAFAH1B1):c.1028G>A (p.Gly343Glu)
NM_000430.4(PAFAH1B1):c.1052A>C (p.Lys351Thr)
NM_000430.4(PAFAH1B1):c.1052A>G (p.Lys351Arg)
NM_000430.4(PAFAH1B1):c.1063A>G (p.Ser355Gly)
NM_000430.4(PAFAH1B1):c.1075G>T (p.Asp359Tyr) rs2151673928
NM_000430.4(PAFAH1B1):c.1081A>T (p.Thr361Ser)
NM_000430.4(PAFAH1B1):c.1087C>G (p.Arg363Gly)
NM_000430.4(PAFAH1B1):c.1088G>C (p.Arg363Pro) rs2151673957
NM_000430.4(PAFAH1B1):c.1090G>A (p.Val364Ile)
NM_000430.4(PAFAH1B1):c.1090G>T (p.Val364Leu) rs768778197
NM_000430.4(PAFAH1B1):c.111A>C (p.Leu37Phe)
NM_000430.4(PAFAH1B1):c.112G>A (p.Asp38Asn) rs767670214
NM_000430.4(PAFAH1B1):c.1138G>C (p.Glu380Gln)
NM_000430.4(PAFAH1B1):c.1151C>G (p.Thr384Ser)
NM_000430.4(PAFAH1B1):c.1159+6T>A rs2151674067
NM_000430.4(PAFAH1B1):c.1160-3C>T
NM_000430.4(PAFAH1B1):c.116T>C (p.Val39Ala)
NM_000430.4(PAFAH1B1):c.116_117+2dup rs2151659410
NM_000430.4(PAFAH1B1):c.117+3A>G
NM_000430.4(PAFAH1B1):c.118-11_118-7del rs1555526298
NM_000430.4(PAFAH1B1):c.1188C>T (p.Val396=) rs587784246
NM_000430.4(PAFAH1B1):c.1199T>C (p.Val400Ala) rs2151675417
NM_000430.4(PAFAH1B1):c.1221G>A (p.Trp407Ter) rs2151675439
NM_000430.4(PAFAH1B1):c.1226G>A (p.Cys409Tyr)
NM_000430.4(PAFAH1B1):c.124G>A (p.Glu42Lys)
NM_000430.4(PAFAH1B1):c.140A>G (p.Tyr47Cys) rs768437076
NM_000430.4(PAFAH1B1):c.163T>A (p.Trp55Arg) rs587784254
NM_000430.4(PAFAH1B1):c.176T>C (p.Ile59Thr) rs773195662
NM_000430.4(PAFAH1B1):c.245G>T (p.Gly82Val)
NM_000430.4(PAFAH1B1):c.247_252dup (p.Gly83_Pro84dup) rs999819130
NM_000430.4(PAFAH1B1):c.254T>A (p.Leu85His)
NM_000430.4(PAFAH1B1):c.257_258insGTC (p.Gly86_Gln87insSer)
NM_000430.4(PAFAH1B1):c.293C>T (p.Pro98Leu)
NM_000430.4(PAFAH1B1):c.304T>G (p.Tyr102Asp)
NM_000430.4(PAFAH1B1):c.32+2dup
NM_000430.4(PAFAH1B1):c.33-3C>G rs587784260
NM_000430.4(PAFAH1B1):c.33-8_33-7delinsAG rs1555526239
NM_000430.4(PAFAH1B1):c.350A>G (p.His117Arg) rs797045860
NM_000430.4(PAFAH1B1):c.353C>G (p.Pro118Arg) rs2151661052
NM_000430.4(PAFAH1B1):c.355G>A (p.Val119Met)
NM_000430.4(PAFAH1B1):c.362G>A (p.Ser121Asn)
NM_000430.4(PAFAH1B1):c.364G>C (p.Val122Leu)
NM_000430.4(PAFAH1B1):c.368T>C (p.Met123Thr) rs1334642659
NM_000430.4(PAFAH1B1):c.389C>G (p.Ala130Gly)
NM_000430.4(PAFAH1B1):c.394A>G (p.Ile132Val)
NM_000430.4(PAFAH1B1):c.395T>C (p.Ile132Thr)
NM_000430.4(PAFAH1B1):c.416C>G (p.Thr139Ser)
NM_000430.4(PAFAH1B1):c.419G>C (p.Gly140Ala)
NM_000430.4(PAFAH1B1):c.421G>A (p.Asp141Asn) rs1555526698
NM_000430.4(PAFAH1B1):c.422A>G (p.Asp141Gly) rs1226589466
NM_000430.4(PAFAH1B1):c.431G>C (p.Arg144Pro) rs2151663968
NM_000430.4(PAFAH1B1):c.449C>A (p.Thr150Lys)
NM_000430.4(PAFAH1B1):c.449C>T (p.Thr150Ile) rs1174082142
NM_000430.4(PAFAH1B1):c.470C>T (p.Ser157Leu) rs2069162720
NM_000430.4(PAFAH1B1):c.475G>A (p.Asp159Asn) rs753583241
NM_000430.4(PAFAH1B1):c.481A>G (p.Ser161Gly)
NM_000430.4(PAFAH1B1):c.484G>T (p.Gly162Cys)
NM_000430.4(PAFAH1B1):c.490C>T (p.Leu164Phe)
NM_000430.4(PAFAH1B1):c.518C>G (p.Thr173Ser) rs2151664089
NM_000430.4(PAFAH1B1):c.553A>C (p.Ile185Leu)
NM_000430.4(PAFAH1B1):c.562A>G (p.Met188Val)
NM_000430.4(PAFAH1B1):c.563T>C (p.Met188Thr) rs1478372648
NM_000430.4(PAFAH1B1):c.568+4del
NM_000430.4(PAFAH1B1):c.568+6G>A
NM_000430.4(PAFAH1B1):c.569-13_569-12insACACATAATA
NM_000430.4(PAFAH1B1):c.569-9G>A rs2069199944
NM_000430.4(PAFAH1B1):c.569G>C (p.Gly190Ala)
NM_000430.4(PAFAH1B1):c.581A>G (p.Asn194Ser)
NM_000430.4(PAFAH1B1):c.58C>A (p.Arg20Ser) rs975702095
NM_000430.4(PAFAH1B1):c.592_597dup (p.Val198_Ala199dup) rs2151666355
NM_000430.4(PAFAH1B1):c.594A>G (p.Val198=)
NM_000430.4(PAFAH1B1):c.598A>G (p.Ile200Val)
NM_000430.4(PAFAH1B1):c.599T>C (p.Ile200Thr)
NM_000430.4(PAFAH1B1):c.603G>T (p.Met201Ile)
NM_000430.4(PAFAH1B1):c.620T>C (p.Ile207Thr)
NM_000430.4(PAFAH1B1):c.623T>C (p.Val208Ala) rs2069200486
NM_000430.4(PAFAH1B1):c.628G>T (p.Ala210Ser) rs2151666389
NM_000430.4(PAFAH1B1):c.629C>A (p.Ala210Asp)
NM_000430.4(PAFAH1B1):c.635G>A (p.Arg212Lys) rs2151666403
NM_000430.4(PAFAH1B1):c.650A>T (p.Lys217Ile)
NM_000430.4(PAFAH1B1):c.655T>G (p.Trp219Gly) rs2069200834
NM_000430.4(PAFAH1B1):c.661G>A (p.Val221Met) rs1262666760
NM_000430.4(PAFAH1B1):c.672-12_672-9del
NM_000430.4(PAFAH1B1):c.684G>T (p.Lys228Asn) rs1567559660
NM_000430.4(PAFAH1B1):c.687A>T (p.Thr229=) rs587784283
NM_000430.4(PAFAH1B1):c.715A>T (p.Met239Leu)
NM_000430.4(PAFAH1B1):c.721C>T (p.Arg241Trp) rs906198937
NM_000430.4(PAFAH1B1):c.722G>A (p.Arg241Gln) rs121434488
NM_000430.4(PAFAH1B1):c.743T>C (p.Leu248Pro) rs2069227815
NM_000430.4(PAFAH1B1):c.748G>A (p.Ala250Thr)
NM_000430.4(PAFAH1B1):c.769A>G (p.Thr257Ala)
NM_000430.4(PAFAH1B1):c.841T>G (p.Cys281Gly) rs587784288
NM_000430.4(PAFAH1B1):c.889A>G (p.Thr297Ala) rs778412717
NM_000430.4(PAFAH1B1):c.892G>C (p.Gly298Arg)
NM_000430.4(PAFAH1B1):c.895T>A (p.Ser299Thr)
NM_000430.4(PAFAH1B1):c.900+11dup rs886052713
NM_000430.4(PAFAH1B1):c.900+5T>C
NM_000430.4(PAFAH1B1):c.900+6G>A rs200211261
NM_000430.4(PAFAH1B1):c.914G>A (p.Gly305Asp)
NM_000430.4(PAFAH1B1):c.936G>C (p.Leu312=) rs2069270710
NM_000430.4(PAFAH1B1):c.941G>T (p.Gly314Val) rs1597577296
NM_000430.4(PAFAH1B1):c.955A>G (p.Thr319Ala)
NM_000430.4(PAFAH1B1):c.95A>G (p.Lys32Arg)
NM_000430.4(PAFAH1B1):c.966G>A (p.Met322Ile)
NM_000430.4(PAFAH1B1):c.973G>A (p.Val325Ile) rs2151670017

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