ClinVar Miner

List of variants in gene LDLR reported as likely pathogenic by Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine

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Total variants: 19
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HGVS dbSNP
NM_000527.4(LDLR):c.1201C>G (p.Leu401Val) rs146200173
NM_000527.4(LDLR):c.1238C>T (p.Thr413Met) rs368562025
NM_000527.4(LDLR):c.1432G>A (p.Gly478Arg) rs144614838
NM_000527.4(LDLR):c.1444G>A (p.Asp482Asn) rs139624145
NM_000527.4(LDLR):c.1474G>A (p.Asp492Asn) rs373646964
NM_000527.4(LDLR):c.1640T>C (p.Leu547Pro) rs879254968
NM_000527.4(LDLR):c.1705+1G>A rs875989926
NM_000527.4(LDLR):c.1897C>T (p.Arg633Cys) rs746118995
NM_000527.4(LDLR):c.1898G>A (p.Arg633His) rs754536745
NM_000527.4(LDLR):c.1911delC (p.Asp638Metfs) rs867272973
NM_000527.4(LDLR):c.2029T>C (p.Cys677Arg) rs775092314
NM_000527.4(LDLR):c.420G>C (p.Glu140Asp) rs879254520
NM_000527.4(LDLR):c.542C>G (p.Pro181Arg) rs557344672
NM_000527.4(LDLR):c.551G>A (p.Cys184Tyr) rs121908039
NM_000527.4(LDLR):c.782G>T (p.Cys261Phe) rs121908040
NM_000527.4(LDLR):c.796G>A (p.Asp266Asn) rs875989907
NM_000527.4(LDLR):c.798T>A (p.Asp266Glu) rs139043155
NM_000527.4(LDLR):c.862G>A (p.Glu288Lys) rs368657165
NM_000527.4(LDLR):c.938G>A (p.Cys313Tyr) rs875989911

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