ClinVar Miner

Variants with conflicting interpretations "pathogenic" from NIHR Bioresource Rare Diseases, University of Cambridge and "uncertain significance" from any submitter

Minimum review status of the submission from NIHR Bioresource Rare Diseases, University of Cambridge: Collection method of the submission from NIHR Bioresource Rare Diseases, University of Cambridge:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 16
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HGVS dbSNP gnomAD frequency
NM_003661.4(APOL1):c.1024A>G (p.Ser342Gly) rs73885319 0.06773
NM_003661.4(APOL1):c.1152T>G (p.Ile384Met) rs60910145 0.06710
NM_019616.4(F7):c.995C>T (p.Ala332Val) rs36209567 0.00038
NM_019616.4(F7):c.781C>T (p.Arg261Trp) rs779589651 0.00008
NM_000552.5(VWF):c.658-3C>A rs377196768 0.00007
NM_000128.4(F11):c.365G>A (p.Gly122Asp) rs369650561 0.00001
NM_002163.4(IRF8):c.1279dup (p.Ter427LeuextTer?) rs1567479117 0.00001
NM_006017.3(PROM1):c.1579-1G>C rs372513650 0.00001
NC_000022.11:g.19721912_19724790del
NM_000128.4(F11):c.1325del (p.Leu442fs) rs757530565
NM_000419.5(ITGA2B):c.1440-1G>A rs1598379928
NM_000419.5(ITGA2B):c.2992del (p.Trp998fs) rs1598375578
NM_001004334.4(GPR179):c.984del (p.Ser329fs) rs770066665
NM_003661.4(APOL1):c.1164_1169del (p.Asn388_Tyr389del) rs71785313
NM_006060.6(IKZF1):c.484C>T (p.Arg162Trp) rs1584925614
Single allele

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