ClinVar Miner

List of variants in gene IVD reported as pathogenic

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Total variants: 85
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HGVS dbSNP gnomAD frequency
NM_002225.5(IVD):c.932C>T (p.Ala311Val) rs28940889 0.00077
NM_002225.5(IVD):c.358G>A (p.Gly120Arg) rs142761835 0.00013
NM_002225.5(IVD):c.550+1G>A rs377147994 0.00007
NM_002225.5(IVD):c.1174C>T (p.Arg392Cys) rs371427844 0.00004
NM_002225.5(IVD):c.1232G>A (p.Arg411Gln) rs143348838 0.00004
NM_002225.5(IVD):c.287-1G>A rs1398838997 0.00004
NM_002225.5(IVD):c.1175G>A (p.Arg392His) rs982218848 0.00003
NM_002225.5(IVD):c.1123G>A (p.Gly375Ser) rs544110604 0.00002
NM_002225.5(IVD):c.205G>A (p.Asp69Asn) rs747273828 0.00002
NM_002225.5(IVD):c.596G>T (p.Gly199Val) rs121434285 0.00002
NM_002225.5(IVD):c.865G>A (p.Gly289Arg) rs568885234 0.00002
NM_002225.5(IVD):c.1108C>T (p.Gln370Ter) rs368705240 0.00001
NM_002225.5(IVD):c.1112T>C (p.Val371Ala) rs754600862 0.00001
NM_002225.5(IVD):c.1138+1G>A rs1193235415 0.00001
NM_002225.5(IVD):c.1184G>A (p.Arg395Gln) rs1477527791 0.00001
NM_002225.5(IVD):c.1199A>G (p.Tyr400Cys) rs773560012 0.00001
NM_002225.5(IVD):c.1205T>C (p.Ile402Thr) rs763422682 0.00001
NM_002225.5(IVD):c.1206del (p.Ile402fs) rs1595797766 0.00001
NM_002225.5(IVD):c.1231C>T (p.Arg411Trp) rs1237032588 0.00001
NM_002225.5(IVD):c.149G>A (p.Arg50His) rs2229311 0.00001
NM_002225.5(IVD):c.232C>T (p.Arg78Ter) rs765815516 0.00001
NM_002225.5(IVD):c.349C>T (p.Arg117Ter) rs776015412 0.00001
NM_002225.5(IVD):c.381del (p.Ala128fs) rs769048174 0.00001
NM_002225.5(IVD):c.397_398del (p.Cys133fs) rs398123682 0.00001
NM_002225.5(IVD):c.456+2T>C rs398123683 0.00001
NM_002225.5(IVD):c.498del (p.Glu166fs) rs398123684 0.00001
NM_002225.5(IVD):c.784+1G>A rs763471771 0.00001
NM_002225.5(IVD):c.890C>T (p.Ala297Val) rs796051983 0.00001
NC_000015.10:g.(?_40416068)_(40418273_?)del
NC_000015.9:g.(?_40698000)_(40700209_?)del
NC_000015.9:g.(?_40698010)_(40698182_?)del
NC_000015.9:g.(?_40698010)_(40710472_?)del
NC_000015.9:g.(?_40699827)_(40710472_?)del
NM_002225.5(IVD):c.1009C>G (p.Arg337Gly) rs776608445
NM_002225.5(IVD):c.102_103del (p.Val35fs) rs1057517379
NM_002225.5(IVD):c.1030G>A (p.Ala344Thr)
NM_002225.5(IVD):c.1066G>A (p.Asp356Asn) rs398123679
NM_002225.5(IVD):c.1071_1072del (p.Ala358fs) rs1891674455
NM_002225.5(IVD):c.1083del (p.Leu362fs)
NM_002225.5(IVD):c.109G>A (p.Asp37Asn) rs2141289961
NM_002225.5(IVD):c.1179del (p.Leu394fs) rs786204613
NM_002225.5(IVD):c.1183C>T (p.Arg395Ter) rs398123681
NM_002225.5(IVD):c.1186G>C (p.Asp396His)
NM_002225.5(IVD):c.1204_1210del (p.Ile402fs)
NM_002225.5(IVD):c.1208_1230dup (p.Arg411delinsGlyLeuGlyProAlaArgTer)
NM_002225.5(IVD):c.1229_1256del (p.Arg410fs) rs1555405428
NM_002225.5(IVD):c.125T>C (p.Leu42Pro) rs121434284
NM_002225.5(IVD):c.127dup (p.Ser43fs)
NM_002225.5(IVD):c.144+1G>C
NM_002225.5(IVD):c.145_234del (p.Leu49_Arg78del)
NM_002225.5(IVD):c.148C>T (p.Arg50Cys) rs34695403
NM_002225.5(IVD):c.149G>C (p.Arg50Pro) rs2229311
NM_002225.5(IVD):c.150del (p.Gln51fs) rs2141301396
NM_002225.5(IVD):c.163A>T (p.Lys55Ter)
NM_002225.5(IVD):c.199G>T (p.Glu67Ter) rs199865931
NM_002225.5(IVD):c.225del (p.Asn76fs) rs2141302044
NM_002225.5(IVD):c.235-1G>A
NM_002225.5(IVD):c.242G>A (p.Trp81Ter) rs767782379
NM_002225.5(IVD):c.243G>A (p.Trp81Ter) rs540375168
NM_002225.5(IVD):c.259del (p.Leu87fs)
NM_002225.5(IVD):c.275_285del (p.Ile92fs)
NM_002225.5(IVD):c.285del (p.Val96fs)
NM_002225.5(IVD):c.287-2A>G rs781340220
NM_002225.5(IVD):c.340del (p.Glu114fs)
NM_002225.5(IVD):c.456+22_510delinsGTTG rs1555403942
NM_002225.5(IVD):c.457-2A>G rs771914739
NM_002225.5(IVD):c.457-3_457-2delinsGG rs786204427
NM_002225.5(IVD):c.506_507insT (p.Gly170fs)
NM_002225.5(IVD):c.541G>T (p.Glu181Ter) rs2141329244
NM_002225.5(IVD):c.585G>A (p.Trp195Ter)
NM_002225.5(IVD):c.599del (p.Pro200fs) rs1566936542
NM_002225.5(IVD):c.618del (p.Ile206fs) rs781630355
NM_002225.5(IVD):c.61_67del (p.Leu21fs) rs1890343709
NM_002225.5(IVD):c.650del (p.Pro217fs) rs1364046355
NM_002225.5(IVD):c.667dup (p.Thr223fs)
NM_002225.5(IVD):c.669dup (p.Ala224fs)
NM_002225.5(IVD):c.723_724delinsTT (p.Lys242Ter)
NM_002225.5(IVD):c.744dup (p.Asn249Ter) rs1057516769
NM_002225.5(IVD):c.785-1G>A rs1555404784
NM_002225.5(IVD):c.838_841del (p.Leu280fs) rs2141351682
NM_002225.5(IVD):c.870del (p.Pro291fs) rs759159766
NM_002225.5(IVD):c.870dup (p.Pro291fs) rs759159766
NM_002225.5(IVD):c.960G>T (p.Gln320His) rs367814475
NM_002225.5(IVD):c.985_986del (p.Met329fs)
NM_002225.5(IVD):c.995G>T (p.Arg332Leu) rs745464766

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