ClinVar Miner

Variants with conflicting interpretations "pathogenic" from NIHR Bioresource Rare Diseases, University of Cambridge and "likely pathogenic" 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: 37
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HGVS dbSNP gnomAD frequency
NM_000303.3(PMM2):c.422G>A (p.Arg141His) rs28936415 0.00338
NM_000174.5(GP9):c.182A>G (p.Asn61Ser) rs5030764 0.00076
NM_014625.4(NPHS2):c.413G>A (p.Arg138Gln) rs74315342 0.00054
NM_201548.5(CERKL):c.769C>T (p.Arg257Ter) rs121909398 0.00039
NM_019616.4(F7):c.995C>T (p.Ala332Val) rs36209567 0.00038
NM_004972.4(JAK2):c.1849G>T (p.Val617Phe) rs77375493 0.00036
NM_001297.5(CNGB1):c.413-1G>A rs189234741 0.00010
NM_019616.4(F7):c.413A>G (p.Gln138Arg) rs200016360 0.00008
NM_000128.4(F11):c.1288G>A (p.Ala430Thr) rs753909969 0.00006
NM_000128.4(F11):c.400C>T (p.Gln134Ter) rs756908183 0.00004
NM_000132.4(F8):c.5123G>A (p.Arg1708His) rs111033614 0.00002
NM_000018.4(ACADVL):c.1349G>A (p.Arg450His) rs118204016 0.00001
NM_000128.4(F11):c.1432G>A (p.Gly478Arg) rs542967227 0.00001
NM_000128.4(F11):c.755+2T>C rs1220869989 0.00001
NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter) rs61751383 0.00001
NM_000419.5(ITGA2B):c.409-1G>A rs1393747638 0.00001
NM_001114753.3(ENG):c.1306C>T (p.Gln436Ter) rs1554809450 0.00001
NM_000043.6(FAS):c.748C>T (p.Arg250Ter) rs778993919
NM_000128.4(F11):c.1782C>A (p.Ser594Arg) rs28934609
NM_000132.4(F8):c.6685C>T (p.Leu2229Phe) rs1603431508
NM_000212.3(ITGB3):c.433G>A (p.Asp145Asn) rs121918445
NM_000313.4(PROS1):c.785del (p.Gly262fs) rs1576182838
NM_000350.3(ABCA4):c.3210_3211dup (p.Ser1071fs) rs387906385
NM_000350.3(ABCA4):c.6658C>T (p.Gln2220Ter) rs61753046
NM_000419.5(ITGA2B):c.559del (p.Val187fs) rs1469711487
NM_000552.5(VWF):c.3797C>T (p.Pro1266Leu) rs61749370
NM_000552.5(VWF):c.3946G>A (p.Val1316Met) rs61749397
NM_001034853.2(RPGR):c.2236_2237del (p.Glu746fs) rs1555961852
NM_001114753.3(ENG):c.1472_1475del (p.Asp491fs) rs1830384910
NM_001114753.3(ENG):c.1513G>T (p.Glu505Ter) rs1830383454
NM_001114753.3(ENG):c.277C>T (p.Arg93Ter) rs886039506
NM_001122769.3(LCA5):c.633_639del (p.Glu211fs) rs878853382
NM_001371279.1(REEP1):c.59C>A (p.Ala20Glu) rs121918262
NM_002473.6(MYH9):c.283G>A (p.Ala95Thr) rs1603484047
NM_002473.6(MYH9):c.287C>T (p.Ser96Leu) rs121913657
NM_014625.4(NPHS2):c.855_856del (p.Arg286fs) rs749740335
Single allele

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