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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Gene type:
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Total variants: 70
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HGVS dbSNP gnomAD frequency
NM_000527.5(LDLR):c.1201C>G (p.Leu401Val) rs146200173 0.00007
NM_000527.5(LDLR):c.1003G>A (p.Gly335Ser) rs544453230 0.00005
NM_000527.5(LDLR):c.1646G>A (p.Gly549Asp) rs28941776 0.00004
NM_000527.5(LDLR):c.2054C>T (p.Pro685Leu) rs28942084 0.00004
NM_000527.5(LDLR):c.590G>A (p.Cys197Tyr) rs376459828 0.00004
NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu) rs137929307 0.00003
NM_000527.5(LDLR):c.514G>A (p.Asp172Asn) rs879254554 0.00003
NM_000527.5(LDLR):c.986G>A (p.Cys329Tyr) rs761954844 0.00003
NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser) rs730882096 0.00002
NM_000527.5(LDLR):c.1187-10G>A rs765696008 0.00002
NM_000527.5(LDLR):c.1784G>A (p.Arg595Gln) rs201102492 0.00002
NM_000527.5(LDLR):c.1048C>T (p.Arg350Ter) rs769737896 0.00001
NM_000527.5(LDLR):c.1102T>C (p.Cys368Arg) rs879254791 0.00001
NM_000527.5(LDLR):c.1135T>C (p.Cys379Arg) rs879254803 0.00001
NM_000527.5(LDLR):c.1216C>T (p.Arg406Trp) rs121908043 0.00001
NM_000527.5(LDLR):c.1246C>T (p.Arg416Trp) rs570942190 0.00001
NM_000527.5(LDLR):c.1291G>A (p.Ala431Thr) rs28942079 0.00001
NM_000527.5(LDLR):c.2000G>A (p.Cys667Tyr) rs28942083 0.00001
NM_000527.5(LDLR):c.2043C>A (p.Cys681Ter) rs121908031 0.00001
NM_000527.5(LDLR):c.2167G>T (p.Glu723Ter) rs1057516127 0.00001
NM_000527.5(LDLR):c.259T>G (p.Trp87Gly) rs121908025 0.00001
NM_000527.5(LDLR):c.301G>A (p.Glu101Lys) rs144172724 0.00001
NM_000527.5(LDLR):c.664T>C (p.Cys222Arg) rs577934998 0.00001
NM_000527.5(LDLR):c.761A>C (p.Gln254Pro) rs879254667 0.00001
NM_000527.5(LDLR):c.796G>A (p.Asp266Asn) rs875989907 0.00001
NM_000527.4(LDLR):c.694+2T>C rs200238879
NM_000527.4:c.(1586+1_1587-1)_(1845+1_1846-1)del
NM_000527.4:c.(1586+1_1587-1)_(2140+1_2141-1)del
NM_000527.4:c.(67+1_68-1)_(313+1_314-1)del
NM_000527.4:c.(?_-1)_(67+1_68-1)del
NM_000527.5(LDLR):c.1008C>A (p.Tyr336Ter) rs767024374
NM_000527.5(LDLR):c.1013G>A (p.Cys338Tyr) rs879254754
NM_000527.5(LDLR):c.1099_1104delinsGT (p.Leu367fs) rs879254790
NM_000527.5(LDLR):c.1124A>G (p.Tyr375Cys) rs879254800
NM_000527.5(LDLR):c.1216C>A (p.Arg406=) rs121908043
NM_000527.5(LDLR):c.1257C>G (p.Tyr419Ter) rs774439908
NM_000527.5(LDLR):c.1272del (p.Asn425fs) rs1060500987
NM_000527.5(LDLR):c.1358+2T>A rs193922567
NM_000527.5(LDLR):c.1382del (p.Gly461fs) rs1600727337
NM_000527.5(LDLR):c.1448G>A (p.Trp483Ter) rs875989921
NM_000527.5(LDLR):c.1467C>G (p.Tyr489Ter) rs370777955
NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn) rs373646964
NM_000527.5(LDLR):c.1478_1479del (p.Ser493fs) rs869025453
NM_000527.5(LDLR):c.1567G>A (p.Val523Met) rs28942080
NM_000527.5(LDLR):c.1694G>T (p.Gly565Val) rs28942082
NM_000527.5(LDLR):c.1886del (p.Phe629fs) rs879255068
NM_000527.5(LDLR):c.191-1G>A rs879254433
NM_000527.5(LDLR):c.2389G>A (p.Val797Met) rs750518671
NM_000527.5(LDLR):c.2446A>T (p.Lys816Ter) rs879255213
NM_000527.5(LDLR):c.2447_2450dup (p.Asn817fs) rs387906302
NM_000527.5(LDLR):c.304C>T (p.Gln102Ter) rs563390335
NM_000527.5(LDLR):c.313_313+1del rs875989896
NM_000527.5(LDLR):c.314-1G>A rs879254471
NM_000527.5(LDLR):c.337G>T (p.Glu113Ter) rs769383881
NM_000527.5(LDLR):c.417C>A (p.Asp139Glu) rs537484504
NM_000527.5(LDLR):c.443G>C (p.Cys148Ser) rs879254526
NM_000527.5(LDLR):c.462_475del (p.Gln154fs)
NM_000527.5(LDLR):c.513dup (p.Asp172fs) rs879254552
NM_000527.5(LDLR):c.519C>G (p.Cys173Trp) rs769318035
NM_000527.5(LDLR):c.523G>A (p.Asp175Asn) rs121908033
NM_000527.5(LDLR):c.648dup (p.Asp217Ter) rs875989903
NM_000527.5(LDLR):c.675_681dup (p.Glu228delinsIleTer) rs1555803426
NM_000527.5(LDLR):c.681C>G (p.Asp227Glu) rs121908028
NM_000527.5(LDLR):c.682G>A (p.Glu228Lys) rs121908029
NM_000527.5(LDLR):c.81C>G (p.Cys27Trp) rs2228671
NM_000527.5(LDLR):c.858C>A (p.Ser286Arg) rs140241383
NM_000527.5(LDLR):c.938_939delinsAT (p.Cys313Tyr) rs875989910
NM_000527.5(LDLR):c.939C>G (p.Cys313Trp) rs13306512
NM_000527.5(LDLR):c.940+3_940+6del rs2077315885
NM_000527.5(LDLR):c.974G>A (p.Cys325Tyr) rs879254746

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