ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Robarts Research Institute, Western University and "pathogenic" from any submitter

Minimum review status of the submission from Robarts Research Institute, Western University: Collection method of the submission from Robarts Research Institute, Western University:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 18
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HGVS dbSNP gnomAD frequency
NM_000527.5(LDLR):c.1867A>G (p.Ile623Val) rs555292896 0.00013
NM_174936.4(PCSK9):c.1487G>A (p.Arg496Gln) rs139669564 0.00005
NM_000527.5(LDLR):c.1868T>C (p.Ile623Thr) rs141155833 0.00004
NM_000527.5(LDLR):c.718G>A (p.Glu240Lys) rs768563000 0.00004
NM_000527.5(LDLR):c.1765G>A (p.Asp589Asn) rs201971888 0.00002
NM_000527.5(LDLR):c.1301C>T (p.Thr434Met) rs745343524 0.00001
NM_000527.5(LDLR):c.299A>T (p.Asp100Val) rs879254460 0.00001
NM_000384.3(APOB):c.10780T>C (p.Trp3594Arg)
NM_000527.5(LDLR):c.1060+10G>A
NM_000527.5(LDLR):c.1230G>C (p.Arg410Ser) rs879254839
NM_000527.5(LDLR):c.1429G>A (p.Asp477Asn) rs780316072
NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn)
NM_000527.5(LDLR):c.1731G>T (p.Trp577Cys) rs875989928
NM_000527.5(LDLR):c.1845+15C>A rs759867686
NM_000527.5(LDLR):c.1855T>C (p.Phe619Leu) rs747134711
NM_000527.5(LDLR):c.2242G>A (p.Asp748Asn) rs150104358
NM_000527.5(LDLR):c.769C>T (p.Arg257Trp)
NM_000527.5(LDLR):c.941-12G>A rs879254734

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