ClinVar Miner

List of variants in gene HNRNPK studied for Au-Kline syndrome

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Total variants: 68
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HGVS dbSNP gnomAD frequency
NM_031263.4(HNRNPK):c.1361+7T>G rs1048199759 0.00001
NM_002140.4(HNRNPK):c.1009delG rs1554698470
NM_002140.4(HNRNPK):c.1094delG rs1554698213
NM_031263.4(HNRNPK):c.1008+1G>A rs1554698658
NM_031263.4(HNRNPK):c.1040_1041del (p.Ser347fs) rs2491962567
NM_031263.4(HNRNPK):c.1048_1051del (p.Asp350fs) rs2491962345
NM_031263.4(HNRNPK):c.1074dup (p.Met359fs)
NM_031263.4(HNRNPK):c.1093-2A>C rs2491957986
NM_031263.4(HNRNPK):c.1109-3C>G rs2133020130
NM_031263.4(HNRNPK):c.1109A>G (p.Asp370Gly) rs2133020093
NM_031263.4(HNRNPK):c.1122_1123insT (p.Gly375fs) rs2491957120
NM_031263.4(HNRNPK):c.1123G>T (p.Gly375Trp) rs1588412390
NM_031263.4(HNRNPK):c.1183C>T (p.Pro395Ser) rs771289643
NM_031263.4(HNRNPK):c.1191+2T>G rs2491956711
NM_031263.4(HNRNPK):c.1191+3A>T rs2491956703
NM_031263.4(HNRNPK):c.1192-14_1192-2del rs1956767508
NM_031263.4(HNRNPK):c.1192-7_1192-3del rs2491952548
NM_031263.4(HNRNPK):c.1198G>A (p.Gly400Arg) rs2491952414
NM_031263.4(HNRNPK):c.1214A>C (p.Lys405Thr)
NM_031263.4(HNRNPK):c.1225C>T (p.Arg409Trp) rs750307456
NM_031263.4(HNRNPK):c.1240C>T (p.Arg414Cys) rs1348162749
NM_031263.4(HNRNPK):c.1282G>A (p.Glu428Lys) rs2133014993
NM_031263.4(HNRNPK):c.1359C>G (p.Asn453Lys) rs2133014344
NM_031263.4(HNRNPK):c.1361+1G>A rs2491951548
NM_031263.4(HNRNPK):c.136C>T (p.Arg46Cys)
NM_031263.4(HNRNPK):c.140_143delinsATCA (p.Ile47_Leu48delinsAsnGln) rs1588434457
NM_031263.4(HNRNPK):c.203T>C (p.Leu68Pro) rs1588432187
NM_031263.4(HNRNPK):c.203T>G (p.Leu68Arg) rs1588432187
NM_031263.4(HNRNPK):c.213+2dup rs2492017096
NM_031263.4(HNRNPK):c.214-35A>G rs1554700718
NM_031263.4(HNRNPK):c.214-6A>G rs2492005420
NM_031263.4(HNRNPK):c.253G>A (p.Glu85Lys) rs1554700678
NM_031263.4(HNRNPK):c.257+5G>A rs2492005109
NM_031263.4(HNRNPK):c.257G>A (p.Arg86His) rs863223403
NM_031263.4(HNRNPK):c.364C>T (p.Gln122Ter) rs2133042086
NM_031263.4(HNRNPK):c.402+1G>A rs2491990498
NM_031263.4(HNRNPK):c.440T>A (p.Leu147Ter) rs2491985651
NM_031263.4(HNRNPK):c.446T>C (p.Leu149Pro) rs2491985574
NM_031263.4(HNRNPK):c.455A>T (p.His152Leu) rs2491985456
NM_031263.4(HNRNPK):c.460_461del (p.Leu155fs) rs2491985374
NM_031263.4(HNRNPK):c.462T>G (p.Ser154Arg) rs2491985362
NM_031263.4(HNRNPK):c.464T>C (p.Leu155Pro) rs1564063967
NM_031263.4(HNRNPK):c.504_507del (p.Lys168fs)
NM_031263.4(HNRNPK):c.511C>T (p.Arg171Ter) rs1008634601
NM_031263.4(HNRNPK):c.517-1_524del
NM_031263.4(HNRNPK):c.517-6C>G rs1564063356
NM_031263.4(HNRNPK):c.517-7_521del rs2491980894
NM_031263.4(HNRNPK):c.560A>G (p.His187Arg) rs1588420417
NM_031263.4(HNRNPK):c.563C>G (p.Ser188Cys) rs2491980551
NM_031263.4(HNRNPK):c.573_574del (p.Arg191fs) rs1956917064
NM_031263.4(HNRNPK):c.575T>G (p.Val192Gly) rs2491980465
NM_031263.4(HNRNPK):c.59-1G>C
NM_031263.4(HNRNPK):c.620_637del (p.Lys207_Leu212del) rs2491980145
NM_031263.4(HNRNPK):c.645+1G>T rs1956915416
NM_031263.4(HNRNPK):c.646-1G>A rs1564062144
NM_031263.4(HNRNPK):c.66_95del (p.Pro23_Ala32del) rs2492023267
NM_031263.4(HNRNPK):c.673T>C (p.Tyr225His) rs1588417800
NM_031263.4(HNRNPK):c.709G>A (p.Gly237Ser) rs2491971348
NM_031263.4(HNRNPK):c.779G>A (p.Gly260Asp) rs757092061
NM_031263.4(HNRNPK):c.779dup (p.Phe261_Asp262insTer) rs886041807
NM_031263.4(HNRNPK):c.859C>T (p.Arg287Ter) rs1554698878
NM_031263.4(HNRNPK):c.886C>T (p.Arg296Ter) rs2491969421
NM_031263.4(HNRNPK):c.931_932insTT (p.Pro311fs) rs879255263
NM_031263.4(HNRNPK):c.953+1dup rs863223402
NM_031263.4(HNRNPK):c.980_983dup (p.Pro329fs)
NM_031263.4(HNRNPK):c.995G>A (p.Arg332His) rs759203214
NM_031263.4(HNRNPK):c.998dup (p.Tyr333Ter) rs1554698681
NM_031263.4(HNRNPK):c.999del (p.Arg332_Tyr333insTer)

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