ClinVar Miner

List of variants in gene HNRNPK studied for bone development disease

Included ClinVar conditions (618):
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Total variants: 51
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HGVS dbSNP gnomAD frequency
HNRNPK, IVS16, G-A, +1
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)
NM_031263.4(HNRNPK):c.1048_1051del (p.Asp350fs)
NM_031263.4(HNRNPK):c.1109-3C>G rs2133020130
NM_031263.4(HNRNPK):c.1109A>G (p.Asp370Gly) rs2133020093
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
NM_031263.4(HNRNPK):c.1191+3A>T
NM_031263.4(HNRNPK):c.1192-14_1192-2del rs1956767508
NM_031263.4(HNRNPK):c.1192-7_1192-3del
NM_031263.4(HNRNPK):c.1198G>A (p.Gly400Arg)
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+7T>G
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
NM_031263.4(HNRNPK):c.214-35A>G rs1554700718
NM_031263.4(HNRNPK):c.214-6A>G
NM_031263.4(HNRNPK):c.253G>A (p.Glu85Lys) rs1554700678
NM_031263.4(HNRNPK):c.257+5G>A
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
NM_031263.4(HNRNPK):c.440T>A (p.Leu147Ter)
NM_031263.4(HNRNPK):c.455A>T (p.His152Leu)
NM_031263.4(HNRNPK):c.460_461del (p.Leu155fs)
NM_031263.4(HNRNPK):c.464T>C (p.Leu155Pro) rs1564063967
NM_031263.4(HNRNPK):c.511C>T (p.Arg171Ter)
NM_031263.4(HNRNPK):c.517-7_521del
NM_031263.4(HNRNPK):c.560A>G (p.His187Arg) rs1588420417
NM_031263.4(HNRNPK):c.573_574del (p.Arg191fs) rs1956917064
NM_031263.4(HNRNPK):c.575T>G (p.Val192Gly)
NM_031263.4(HNRNPK):c.620_637del (p.Lys207_Leu212del)
NM_031263.4(HNRNPK):c.645+1G>T rs1956915416
NM_031263.4(HNRNPK):c.646-1G>A rs1564062144
NM_031263.4(HNRNPK):c.673T>C (p.Tyr225His) rs1588417800
NM_031263.4(HNRNPK):c.709G>A (p.Gly237Ser)
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.931_932insTT (p.Pro311fs) rs879255263
NM_031263.4(HNRNPK):c.953+1dup rs863223402
NM_031263.4(HNRNPK):c.998dup (p.Tyr333Ter) rs1554698681

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