ClinVar Miner

List of variants in gene LDLR reported as pathogenic by Color

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Total variants: 42
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HGVS dbSNP
NM_000527.4(LDLR):c.1048C>T (p.Arg350Ter) rs769737896
NM_000527.4(LDLR):c.1090T>C (p.Cys364Arg) rs879254787
NM_000527.4(LDLR):c.1187-10G>A rs765696008
NM_000527.4(LDLR):c.1200C>A (p.Tyr400Ter) rs879254827
NM_000527.4(LDLR):c.1285G>A (p.Val429Met) rs28942078
NM_000527.4(LDLR):c.131G>A (p.Trp44Ter) rs267607213
NM_000527.4(LDLR):c.1322T>C (p.Ile441Thr) rs879254862
NM_000527.4(LDLR):c.1358+2T>A rs193922567
NM_000527.4(LDLR):c.1599G>A (p.Trp533Ter) rs879254952
NM_000527.4(LDLR):c.1775G>A (p.Gly592Glu) rs137929307
NM_000527.4(LDLR):c.1860G>A (p.Trp620Ter) rs875989933
NM_000527.4(LDLR):c.196_197delGT (p.Val66Hisfs) rs875989889
NM_000527.4(LDLR):c.2000G>A (p.Cys667Tyr) rs28942083
NM_000527.4(LDLR):c.2054C>T (p.Pro685Leu) rs28942084
NM_000527.4(LDLR):c.2140+1G>A rs145787161
NM_000527.4(LDLR):c.2389G>A (p.Val797Met) rs750518671
NM_000527.4(LDLR):c.259T>G (p.Trp87Gly) rs121908025
NM_000527.4(LDLR):c.296C>G (p.Ser99Ter) rs377271627
NM_000527.4(LDLR):c.301G>A (p.Glu101Lys) rs144172724
NM_000527.4(LDLR):c.303delG (p.Glu101Aspfs) rs764797225
NM_000527.4(LDLR):c.30G>A (p.Trp10Ter)
NM_000527.4(LDLR):c.313+2T>C rs793888517
NM_000527.4(LDLR):c.340_344delTTTCG (p.F114Lfs*13) rs1057516132
NM_000527.4(LDLR):c.418G>A (p.Glu140Lys) rs748944640
NM_000527.4(LDLR):c.502G>A (p.Asp168Asn) rs200727689
NM_000527.4(LDLR):c.523G>A (p.Asp175Asn) rs121908033
NM_000527.4(LDLR):c.551G>A (p.Cys184Tyr) rs121908039
NM_000527.4(LDLR):c.589T>G (p.Cys197Gly) rs730882085
NM_000527.4(LDLR):c.622G>A (p.Glu208Lys) rs879254597
NM_000527.4(LDLR):c.654_656delTGG (p.Gly219del) rs121908027
NM_000527.4(LDLR):c.662A>G (p.Asp221Gly) rs373822756
NM_000527.4(LDLR):c.681C>G (p.Asp227Glu) rs121908028
NM_000527.4(LDLR):c.682G>T (p.Glu228Ter) rs121908029
NM_000527.4(LDLR):c.693C>A (p.Cys231Ter) rs121908035
NM_000527.4(LDLR):c.6delG (p.Trp4Glyfs) rs875989888
NM_000527.4(LDLR):c.81C>A (p.Cys27Ter) rs2228671
NM_000527.4(LDLR):c.820delA (p.T274Hfs*95) rs751122998
NM_000527.4(LDLR):c.922G>T (p.Glu308Ter)
NM_000527.4(LDLR):c.932_933delAA (p.Lys311Argfs) rs879254723
NM_000527.4(LDLR):c.939C>A (p.Cys313Ter) rs13306512
NM_000527.4:c.2001_2002del
NM_000527.4:c.505_511del

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