ClinVar Miner

List of variants reported as likely pathogenic by Institute for Integrative and Experimental Genomics,University of Luebeck

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Total variants: 11
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HGVS dbSNP
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln) rs5742904
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.1359-1G>A rs139617694
NM_000527.4(LDLR):c.1444G>A (p.Asp482Asn) rs139624145
NM_000527.4(LDLR):c.1775G>A (p.Gly592Glu) rs137929307
NM_000527.4(LDLR):c.2231G>A (p.Arg744Gln) rs137853963
NM_000527.4(LDLR):c.757C>T (p.Arg253Trp) rs150673992
NM_000527.4(LDLR):c.811G>A (p.Val271Ile) rs749220643
NM_012108.4(STAP1):c.139A>G (p.Thr47Ala) rs793888522
NM_174936.3(PCSK9):c.610G>A (p.Asp204Asn) rs793888521

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