ClinVar Miner

List of variants in gene IVD studied for not provided

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Gene type:
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Total variants: 84
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HGVS dbSNP gnomAD frequency
NM_002225.5(IVD):c.550+57A>G rs4924466 0.96250
NM_002225.5(IVD):c.688-85A>G rs2289330 0.65147
NM_002225.5(IVD):c.234+14T>C rs2289331 0.62561
NM_002225.5(IVD):c.457-120C>T rs8034416 0.61186
NM_002225.5(IVD):c.1065+41A>G rs11070270 0.60848
NM_002225.5(IVD):c.1139-228G>T rs11070271 0.44655
NM_002225.5(IVD):c.234+98C>T rs10518693 0.36680
NM_002225.5(IVD):c.456+215A>G rs9635324 0.36279
NM_002225.5(IVD):c.688-31T>C rs2289329 0.35913
NM_002225.5(IVD):c.1139-221A>T rs11638033 0.35489
NM_002225.5(IVD):c.*261G>A rs2075624 0.23369
NM_002225.5(IVD):c.286+294T>G rs68169695 0.13333
NM_002225.5(IVD):c.879-144C>T rs875767 0.12991
NM_002225.5(IVD):c.784+131G>A rs2289328 0.11951
NM_002225.5(IVD):c.723C>T (p.Asp241=) rs2229312 0.11757
NM_002225.5(IVD):c.287-318T>C rs72733442 0.11463
NM_002225.5(IVD):c.1138+140C>T rs111540938 0.08842
NM_002225.5(IVD):c.1138+83C>T rs112366697 0.08842
NM_002225.5(IVD):c.*195C>T rs77680513 0.02693
NM_002225.5(IVD):c.1139-178C>A rs59636068 0.02021
NM_002225.5(IVD):c.144+56A>G rs111440850 0.01882
NM_002225.5(IVD):c.1138+78G>A rs78717580 0.01250
NM_002225.5(IVD):c.456+127A>C rs113720703 0.01111
NM_002225.5(IVD):c.1066-34G>A rs113309937 0.01023
NM_002225.5(IVD):c.235-68T>C rs76137091 0.01002
NM_002225.5(IVD):c.145-110G>A rs80175544 0.00999
NC_000015.10:g.40405451T>C rs77818281 0.00975
NC_000015.10:g.40405541T>G rs137951325 0.00410
NM_002225.5(IVD):c.551-18C>T rs142064071 0.00363
NM_002225.5(IVD):c.*15G>A rs112765023 0.00136
NM_002225.5(IVD):c.164A>T (p.Lys55Met) rs145999491 0.00093
NM_002225.5(IVD):c.228C>T (p.Asn76=) rs140098686 0.00078
NM_002225.5(IVD):c.932C>T (p.Ala311Val) rs28940889 0.00077
NM_002225.5(IVD):c.891G>A (p.Ala297=) rs138427412 0.00069
NM_002225.5(IVD):c.229C>T (p.Leu77=) rs143807229 0.00032
NM_002225.5(IVD):c.358G>A (p.Gly120Arg) rs142761835 0.00013
NM_002225.5(IVD):c.707C>T (p.Thr236Ile) rs146861563 0.00010
NM_002225.5(IVD):c.550+1G>A rs377147994 0.00007
NM_002225.5(IVD):c.903C>T (p.His301=) rs759116078 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.1183C>G (p.Arg395Gly) rs398123681 0.00003
NM_002225.5(IVD):c.851G>A (p.Arg284Gln) rs373534546 0.00003
NM_002225.5(IVD):c.1138+9T>G rs749171166 0.00002
NM_002225.5(IVD):c.540G>A (p.Ala180=) rs775944806 0.00002
NM_002225.5(IVD):c.596G>T (p.Gly199Val) rs121434285 0.00002
NM_002225.5(IVD):c.1010G>A (p.Arg337Gln) rs139908696 0.00001
NM_002225.5(IVD):c.1108C>T (p.Gln370Ter) rs368705240 0.00001
NM_002225.5(IVD):c.1132T>C (p.Cys378Arg) rs398123680 0.00001
NM_002225.5(IVD):c.124C>G (p.Leu42Val) rs777674887 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.286+5G>T rs878909737 0.00001
NM_002225.5(IVD):c.337G>C (p.Glu113Gln) rs1232893657 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.456G>A (p.Lys152=) rs886044117 0.00001
NM_002225.5(IVD):c.498del (p.Glu166fs) rs398123684 0.00001
NM_002225.5(IVD):c.539C>T (p.Ala180Val) rs559732306 0.00001
NM_002225.5(IVD):c.726G>C (p.Lys242Asn) rs794727857 0.00001
NM_002225.5(IVD):c.784+1G>A rs763471771 0.00001
NM_002225.5(IVD):c.1066G>A (p.Asp356Asn) rs398123679
NM_002225.5(IVD):c.1083del (p.Leu362fs)
NM_002225.5(IVD):c.1095T>C (p.Ala365=) rs1595790601
NM_002225.5(IVD):c.1179del (p.Leu394fs) rs786204613
NM_002225.5(IVD):c.144+26CCCCAAGGCCTCCTTCCTGCCTGGT[3] rs373206450
NM_002225.5(IVD):c.144+56_144+80del rs373206450
NM_002225.5(IVD):c.149G>C (p.Arg50Pro) rs2229311
NM_002225.5(IVD):c.1A>C (p.Met1Leu) rs757261752
NM_002225.5(IVD):c.234+83_234+84dup rs3214685
NM_002225.5(IVD):c.287-205C>T
NM_002225.5(IVD):c.379G>C (p.Gly127Arg) rs754570116
NM_002225.5(IVD):c.456+26G>A
NM_002225.5(IVD):c.457-216T>A rs73383142
NM_002225.5(IVD):c.464GTG[3] (p.Gly156dup) rs796051982
NM_002225.5(IVD):c.466G>A (p.Gly156Ser) rs1555404010
NM_002225.5(IVD):c.492G>A (p.Met164Ile)
NM_002225.5(IVD):c.581T>A (p.Phe194Tyr) rs1057524715
NM_002225.5(IVD):c.618del (p.Ile206fs) rs781630355
NM_002225.5(IVD):c.650del (p.Pro217fs) rs1364046355
NM_002225.5(IVD):c.667A>G (p.Thr223Ala)
NM_002225.5(IVD):c.687+123G>T rs73383148
NM_002225.5(IVD):c.785-20A>G rs727503970
NM_002225.5(IVD):c.863C>T (p.Ala288Val) rs886042098

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