ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Robarts Research Institute, Western University and "likely 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: 14
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HGVS dbSNP gnomAD frequency
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.299A>T (p.Asp100Val) rs879254460 0.00001
NM_000384.3(APOB):c.11477C>T (p.Thr3826Met)
NM_000384.3(APOB):c.13477CAG[1] (p.Gln4494del) rs562574661
NM_000527.5(LDLR):c.1060+10G>A
NM_000527.5(LDLR):c.1186G>A (p.Gly396Ser) rs879254820
NM_000527.5(LDLR):c.1210A>C (p.Thr404Pro) rs879254834
NM_000527.5(LDLR):c.1230G>C (p.Arg410Ser) rs879254839
NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn)
NM_000527.5(LDLR):c.1731G>T (p.Trp577Cys) rs875989928
NM_000527.5(LDLR):c.1855T>C (p.Phe619Leu) rs747134711
NM_000527.5(LDLR):c.1957G>T (p.Val653Phe) rs879255085
NM_000527.5(LDLR):c.941-12G>A rs879254734

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