ClinVar Miner

List of variants in gene PNLIP studied for not provided

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Gene type:
ClinVar version:
Total variants: 218
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HGVS dbSNP gnomAD frequency
NM_000936.4(PNLIP):c.984T>C (p.Ala328=) rs78085802 0.01339
NM_000936.4(PNLIP):c.798C>T (p.Asp266=) rs78912918 0.01312
NM_000936.4(PNLIP):c.96A>C (p.Pro32=) rs76246039 0.01281
NM_000936.4(PNLIP):c.1359C>T (p.Thr453=) rs74568396 0.00484
NC_000010.10:g.(?_118310723)_(118311902_?)del
NC_000010.10:g.(?_118318646)_(118318815_?)del
NM_000936.4(PNLIP):c.1008T>C (p.Asn336=)
NM_000936.4(PNLIP):c.1012G>A (p.Val338Met)
NM_000936.4(PNLIP):c.1021A>C (p.Lys341Gln)
NM_000936.4(PNLIP):c.1025T>C (p.Phe342Ser)
NM_000936.4(PNLIP):c.1029T>G (p.Tyr343Ter) rs1847288716
NM_000936.4(PNLIP):c.1033G>C (p.Asp345His)
NM_000936.4(PNLIP):c.1060+1G>A
NM_000936.4(PNLIP):c.1060C>T (p.Arg354Cys)
NM_000936.4(PNLIP):c.1061-11C>A
NM_000936.4(PNLIP):c.1061-11C>T
NM_000936.4(PNLIP):c.1061-20G>T
NM_000936.4(PNLIP):c.1061-3C>T
NM_000936.4(PNLIP):c.1061G>A (p.Arg354His)
NM_000936.4(PNLIP):c.1081G>A (p.Val361Ile)
NM_000936.4(PNLIP):c.1085C>T (p.Thr362Ile)
NM_000936.4(PNLIP):c.1087C>A (p.Leu363Met)
NM_000936.4(PNLIP):c.1087C>T (p.Leu363=)
NM_000936.4(PNLIP):c.1102G>A (p.Val368Ile)
NM_000936.4(PNLIP):c.1104T>C (p.Val368=)
NM_000936.4(PNLIP):c.1107A>G (p.Thr369=)
NM_000936.4(PNLIP):c.1111C>T (p.His371Tyr)
NM_000936.4(PNLIP):c.1113C>T (p.His371=)
NM_000936.4(PNLIP):c.1114A>T (p.Ile372Leu)
NM_000936.4(PNLIP):c.1115T>C (p.Ile372Thr)
NM_000936.4(PNLIP):c.111G>A (p.Thr37=)
NM_000936.4(PNLIP):c.1122T>C (p.Val374=)
NM_000936.4(PNLIP):c.1131C>T (p.Phe377=)
NM_000936.4(PNLIP):c.1132G>A (p.Gly378Arg)
NM_000936.4(PNLIP):c.1145A>G (p.Asn382Ser)
NM_000936.4(PNLIP):c.1149T>C (p.Ser383=)
NM_000936.4(PNLIP):c.1154A>G (p.Gln385Arg)
NM_000936.4(PNLIP):c.1157A>G (p.Tyr386Cys)
NM_000936.4(PNLIP):c.115A>G (p.Arg39Gly)
NM_000936.4(PNLIP):c.1169+13A>G
NM_000936.4(PNLIP):c.1169+14T>C
NM_000936.4(PNLIP):c.116G>A (p.Arg39Lys)
NM_000936.4(PNLIP):c.1178T>G (p.Leu393Arg)
NM_000936.4(PNLIP):c.1202A>G (p.Asn401Ser)
NM_000936.4(PNLIP):c.1212C>G (p.Asp404Glu)
NM_000936.4(PNLIP):c.1214C>A (p.Ser405Ter)
NM_000936.4(PNLIP):c.1218T>G (p.Asp406Glu)
NM_000936.4(PNLIP):c.1219G>A (p.Val407Met)
NM_000936.4(PNLIP):c.1224T>C (p.Asp408=)
NM_000936.4(PNLIP):c.1230G>A (p.Gly410=)
NM_000936.4(PNLIP):c.1241T>A (p.Met414Lys)
NM_000936.4(PNLIP):c.1241T>C (p.Met414Thr)
NM_000936.4(PNLIP):c.1242G>T (p.Met414Ile)
NM_000936.4(PNLIP):c.124C>T (p.His42Tyr)
NM_000936.4(PNLIP):c.1254T>C (p.Ile418=)
NM_000936.4(PNLIP):c.1257G>A (p.Trp419Ter) rs765879360
NM_000936.4(PNLIP):c.129A>G (p.Ile43Met)
NM_000936.4(PNLIP):c.12T>C (p.Leu4=)
NM_000936.4(PNLIP):c.12T>G (p.Leu4=)
NM_000936.4(PNLIP):c.1319C>T (p.Thr440Ile)
NM_000936.4(PNLIP):c.131T>G (p.Leu44Trp)
NM_000936.4(PNLIP):c.1335-14T>C
NM_000936.4(PNLIP):c.1335-3C>T
NM_000936.4(PNLIP):c.1335-8C>A
NM_000936.4(PNLIP):c.1335-9T>C
NM_000936.4(PNLIP):c.1335G>T (p.Gln445His)
NM_000936.4(PNLIP):c.1341C>T (p.Asn447=)
NM_000936.4(PNLIP):c.1355A>G (p.Glu452Gly)
NM_000936.4(PNLIP):c.1360G>A (p.Val454Ile)
NM_000936.4(PNLIP):c.1360G>T (p.Val454Phe)
NM_000936.4(PNLIP):c.1382C>T (p.Thr461Ile)
NM_000936.4(PNLIP):c.1392G>A (p.Pro464=)
NM_000936.4(PNLIP):c.148del (p.Asp50fs)
NM_000936.4(PNLIP):c.150T>C (p.Asp50=)
NM_000936.4(PNLIP):c.160C>G (p.Arg54Gly)
NM_000936.4(PNLIP):c.161G>A (p.Arg54His)
NM_000936.4(PNLIP):c.161G>T (p.Arg54Leu)
NM_000936.4(PNLIP):c.172T>C (p.Tyr58His)
NM_000936.4(PNLIP):c.175A>G (p.Thr59Ala)
NM_000936.4(PNLIP):c.180T>C (p.Asn60=)
NM_000936.4(PNLIP):c.187C>T (p.Pro63Ser)
NM_000936.4(PNLIP):c.189A>C (p.Pro63=)
NM_000936.4(PNLIP):c.210C>T (p.Ala70=)
NM_000936.4(PNLIP):c.211G>A (p.Ala71Thr)
NM_000936.4(PNLIP):c.213A>T (p.Ala71=)
NM_000936.4(PNLIP):c.215A>G (p.Asp72Gly)
NM_000936.4(PNLIP):c.237C>T (p.Ser79=)
NM_000936.4(PNLIP):c.23C>G (p.Ser8Ter)
NM_000936.4(PNLIP):c.253A>G (p.Arg85Gly)
NM_000936.4(PNLIP):c.277G>T (p.Gly93Ter)
NM_000936.4(PNLIP):c.281T>C (p.Phe94Ser)
NM_000936.4(PNLIP):c.285A>T (p.Ile95=)
NM_000936.4(PNLIP):c.30G>A (p.Leu10=)
NM_000936.4(PNLIP):c.315T>C (p.Asn105=)
NM_000936.4(PNLIP):c.324+10G>A
NM_000936.4(PNLIP):c.324+11G>A
NM_000936.4(PNLIP):c.324+6A>T
NM_000936.4(PNLIP):c.325-14G>T
NM_000936.4(PNLIP):c.325-16G>A
NM_000936.4(PNLIP):c.325-5A>G
NM_000936.4(PNLIP):c.330G>A (p.Leu110=)
NM_000936.4(PNLIP):c.346G>A (p.Val116Met)
NM_000936.4(PNLIP):c.360T>C (p.Cys120=)
NM_000936.4(PNLIP):c.373G>A (p.Gly125Ser)
NM_000936.4(PNLIP):c.376_414dup (p.Ile138_Arg139insGlySerArgThrGlyTyrThrGlnAlaSerGlnAsnIle)
NM_000936.4(PNLIP):c.380C>T (p.Ser127Phe)
NM_000936.4(PNLIP):c.38C>T (p.Ala13Val)
NM_000936.4(PNLIP):c.399del (p.Ala134fs)
NM_000936.4(PNLIP):c.400G>A (p.Ala134Thr)
NM_000936.4(PNLIP):c.404C>T (p.Ser135Leu)
NM_000936.4(PNLIP):c.405G>A (p.Ser135=)
NM_000936.4(PNLIP):c.405G>T (p.Ser135=)
NM_000936.4(PNLIP):c.414C>T (p.Ile138=)
NM_000936.4(PNLIP):c.420C>A (p.Ile140=)
NM_000936.4(PNLIP):c.420C>T (p.Ile140=)
NM_000936.4(PNLIP):c.421G>A (p.Val141Met)
NM_000936.4(PNLIP):c.427G>T (p.Ala143Ser)
NM_000936.4(PNLIP):c.456T>C (p.Leu152=)
NM_000936.4(PNLIP):c.459+10C>T
NM_000936.4(PNLIP):c.459+12C>T
NM_000936.4(PNLIP):c.459+13G>A
NM_000936.4(PNLIP):c.459+3A>G
NM_000936.4(PNLIP):c.46+19G>A
NM_000936.4(PNLIP):c.460-1G>A
NM_000936.4(PNLIP):c.460-3C>T
NM_000936.4(PNLIP):c.460-5G>A
NM_000936.4(PNLIP):c.460-6C>T
NM_000936.4(PNLIP):c.461C>T (p.Ser154Leu)
NM_000936.4(PNLIP):c.465G>A (p.Ala155=)
NM_000936.4(PNLIP):c.468C>T (p.Phe156=)
NM_000936.4(PNLIP):c.469G>A (p.Gly157Ser)
NM_000936.4(PNLIP):c.47-13T>C
NM_000936.4(PNLIP):c.47-14C>G
NM_000936.4(PNLIP):c.47-16T>G
NM_000936.4(PNLIP):c.47-8G>C
NM_000936.4(PNLIP):c.470G>A (p.Gly157Asp)
NM_000936.4(PNLIP):c.475T>G (p.Ser159Ala)
NM_000936.4(PNLIP):c.479C>A (p.Pro160His)
NM_000936.4(PNLIP):c.486= (p.Asn162=)
NM_000936.4(PNLIP):c.486T>C (p.Asn162=) rs2915748
NM_000936.4(PNLIP):c.486_487inv (p.Val163Met)
NM_000936.4(PNLIP):c.4C>T (p.Leu2=)
NM_000936.4(PNLIP):c.526G>A (p.Gly176Arg) rs1339962883
NM_000936.4(PNLIP):c.528G>A (p.Gly176=)
NM_000936.4(PNLIP):c.545C>T (p.Thr182Ile)
NM_000936.4(PNLIP):c.548A>G (p.Asn183Ser)
NM_000936.4(PNLIP):c.557T>C (p.Ile186Thr)
NM_000936.4(PNLIP):c.562C>T (p.Arg188Cys)
NM_000936.4(PNLIP):c.563G>A (p.Arg188His)
NM_000936.4(PNLIP):c.571+10A>G
NM_000936.4(PNLIP):c.571+13A>G
NM_000936.4(PNLIP):c.571+17A>G
NM_000936.4(PNLIP):c.571+1G>T
NM_000936.4(PNLIP):c.571+5G>A
NM_000936.4(PNLIP):c.571G>A (p.Gly191Arg)
NM_000936.4(PNLIP):c.59G>T (p.Cys20Phe)
NM_000936.4(PNLIP):c.603C>G (p.Gly201=)
NM_000936.4(PNLIP):c.633C>T (p.Ser211=)
NM_000936.4(PNLIP):c.63C>T (p.Tyr21=)
NM_000936.4(PNLIP):c.64G>A (p.Glu22Lys)
NM_000936.4(PNLIP):c.650A>G (p.Asp217Gly)
NM_000936.4(PNLIP):c.663G>A (p.Thr221=)
NM_000936.4(PNLIP):c.672C>T (p.Ala224=)
NM_000936.4(PNLIP):c.689T>G (p.Leu230Trp)
NM_000936.4(PNLIP):c.691+16C>T
NM_000936.4(PNLIP):c.691+17G>A
NM_000936.4(PNLIP):c.691+19C>A
NM_000936.4(PNLIP):c.691+19C>T
NM_000936.4(PNLIP):c.692-16A>G
NM_000936.4(PNLIP):c.692-19T>C
NM_000936.4(PNLIP):c.692-5_692-4insCT
NM_000936.4(PNLIP):c.692G>T (p.Gly231Val)
NM_000936.4(PNLIP):c.693G>A (p.Gly231=)
NM_000936.4(PNLIP):c.699A>T (p.Gly233=)
NM_000936.4(PNLIP):c.711C>T (p.Val237=)
NM_000936.4(PNLIP):c.712G>A (p.Val238Met)
NM_000936.4(PNLIP):c.717C>T (p.Gly239=)
NM_000936.4(PNLIP):c.72C>T (p.Leu24=)
NM_000936.4(PNLIP):c.745G>A (p.Val249Met)
NM_000936.4(PNLIP):c.789G>A (p.Val263=)
NM_000936.4(PNLIP):c.794T>G (p.Ile265Arg)
NM_000936.4(PNLIP):c.799G>A (p.Gly267Arg)
NM_000936.4(PNLIP):c.807G>A (p.Trp269Ter)
NM_000936.4(PNLIP):c.808G>A (p.Glu270Lys)
NM_000936.4(PNLIP):c.811+14G>T
NM_000936.4(PNLIP):c.811+15T>G
NM_000936.4(PNLIP):c.811+1G>A
NM_000936.4(PNLIP):c.811+5A>G
NM_000936.4(PNLIP):c.811+7C>A
NM_000936.4(PNLIP):c.812-12T>C
NM_000936.4(PNLIP):c.817C>T (p.Arg273Ter)
NM_000936.4(PNLIP):c.818G>A (p.Arg273Gln)
NM_000936.4(PNLIP):c.823T>G (p.Phe275Val)
NM_000936.4(PNLIP):c.827C>T (p.Ala276Val)
NM_000936.4(PNLIP):c.830C>T (p.Ala277Val)
NM_000936.4(PNLIP):c.859T>C (p.Tyr287His)
NM_000936.4(PNLIP):c.867T>C (p.Asp289=)
NM_000936.4(PNLIP):c.873C>A (p.Ile291=) rs1235393329
NM_000936.4(PNLIP):c.8C>T (p.Pro3Leu)
NM_000936.4(PNLIP):c.900C>A (p.Phe300Leu)
NM_000936.4(PNLIP):c.901C>G (p.Pro301Ala)
NM_000936.4(PNLIP):c.906_907del (p.Ala303fs)
NM_000936.4(PNLIP):c.909C>T (p.Ala303=)
NM_000936.4(PNLIP):c.912T>C (p.Ser304=)
NM_000936.4(PNLIP):c.915C>T (p.Tyr305=)
NM_000936.4(PNLIP):c.918C>T (p.Asn306=)
NM_000936.4(PNLIP):c.919G>A (p.Val307Ile)
NM_000936.4(PNLIP):c.930+8G>T
NM_000936.4(PNLIP):c.930+9A>G
NM_000936.4(PNLIP):c.931-3T>C
NM_000936.4(PNLIP):c.946_951dup (p.Pro317_Ser318insCysPro)
NM_000936.4(PNLIP):c.958G>C (p.Gly320Arg)
NM_000936.4(PNLIP):c.959G>A (p.Gly320Asp)
NM_000936.4(PNLIP):c.973_974del (p.Gly325fs)
NM_000936.4(PNLIP):c.981T>C (p.Tyr327=)
NM_000936.4(PNLIP):c.999G>A (p.Gly333=)
NM_000936.4(PNLIP):c.999_1000delinsTT (p.Lys334Ter)
NM_000936.4(PNLIP):c.99G>A (p.Trp33Ter)

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