ClinVar Miner

List of variants in gene LDLR reported as pathogenic by Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_000527.5(LDLR):c.1784G>A (p.Arg595Gln) rs201102492 0.00001
NM_000527.5(LDLR):c.2167G>T (p.Glu723Ter) rs1057516127 0.00001
NM_000527.5(LDLR):c.523G>A (p.Asp175Asn) rs121908033 0.00001
NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser)
NM_000527.5(LDLR):c.1048C>T (p.Arg350Ter)
NM_000527.5(LDLR):c.1099_1104delinsGT (p.Leu367fs)
NM_000527.5(LDLR):c.1102T>C (p.Cys368Arg) rs879254791
NM_000527.5(LDLR):c.1135T>C (p.Cys379Arg)
NM_000527.5(LDLR):c.1216C>A (p.Arg406=) rs121908043
NM_000527.5(LDLR):c.1216C>T (p.Arg406Trp)
NM_000527.5(LDLR):c.1257C>G (p.Tyr419Ter) rs774439908
NM_000527.5(LDLR):c.1382del (p.Gly461fs) rs1600727337
NM_000527.5(LDLR):c.1467C>G (p.Tyr489Ter) rs370777955
NM_000527.5(LDLR):c.1567G>A (p.Val523Met)
NM_000527.5(LDLR):c.1646G>A (p.Gly549Asp)
NM_000527.5(LDLR):c.2000G>A (p.Cys667Tyr) rs28942083
NM_000527.5(LDLR):c.2043C>A (p.Cys681Ter)
NM_000527.5(LDLR):c.2447_2450dup (p.Asn817fs) rs387906302
NM_000527.5(LDLR):c.313_313+1del rs875989896
NM_000527.5(LDLR):c.314-1G>A rs879254471
NM_000527.5(LDLR):c.519C>G (p.Cys173Trp) rs769318035
NM_000527.5(LDLR):c.648dup (p.Asp217Ter) rs875989903
NM_000527.5(LDLR):c.675_681dup (p.Glu228delinsIleTer) rs1555803426
NM_000527.5(LDLR):c.81C>G (p.Cys27Trp)
NM_000527.5(LDLR):c.858C>A (p.Ser286Arg) rs140241383
NM_000527.5(LDLR):c.938_939delinsAT (p.Cys313Tyr) rs875989910

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