ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation and "likely pathogenic" from any submitter

Minimum review status of the submission from Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation: Collection method of the submission from Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation:
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.1846-1G>A rs879255051 0.00001
NM_000527.4(LDLR):c.67+3968_940+296dup
NM_000527.5(LDLR):c.131G>A (p.Trp44Ter) rs267607213
NM_000527.5(LDLR):c.1358+2T>A rs193922567
NM_000527.5(LDLR):c.1478_1479del (p.Ser493fs) rs869025453
NM_000527.5(LDLR):c.1633G>A (p.Gly545Arg) rs879254965
NM_000527.5(LDLR):c.1845+1G>A rs879255049
NM_000527.5(LDLR):c.1845+1G>T rs879255049
NM_000527.5(LDLR):c.2043C>A (p.Cys681Ter)
NM_000527.5(LDLR):c.2140+2T>C rs879255147
NM_000527.5(LDLR):c.2416dup (p.Val806fs)
NM_000527.5(LDLR):c.314-446_1187-386dup
NM_000527.5(LDLR):c.3G>T (p.Met1Ile) rs879254383
NM_000527.5(LDLR):c.501C>A (p.Cys167Ter)
NM_000527.5(LDLR):c.68-2A>T rs879254396
NM_000527.5(LDLR):c.693C>A (p.Cys231Ter)
NM_000527.5(LDLR):c.817+1G>A rs879254685
NM_000527.5(LDLR):c.940+1G>C rs879254729

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