ClinVar Miner

List of variants in gene LDLR reported as likely pathogenic by Iberoamerican FH Network

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Gene type:
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Total variants: 37
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HGVS dbSNP
NM_000527.4(LDLR):c.-135C>G rs879254375
NM_000527.4(LDLR):c.1003G>A (p.Gly335Ser) rs544453230
NM_000527.4(LDLR):c.1055G>A (p.Cys352Tyr) rs193922566
NM_000527.4(LDLR):c.1118G>A (p.Gly373Asp) rs879254797
NM_000527.4(LDLR):c.1216C>T (p.Arg406Trp) rs121908043
NM_000527.4(LDLR):c.1252G>A (p.Glu418Lys) rs869320651
NM_000527.4(LDLR):c.1352T>C (p.Ile451Thr) rs879254874
NM_000527.4(LDLR):c.1444G>A (p.Asp482Asn) rs139624145
NM_000527.4(LDLR):c.1475A>G (p.Asp492Gly) rs879254918
NM_000527.4(LDLR):c.1567G>A (p.Val523Met) rs28942080
NM_000527.4(LDLR):c.1586G>A (p.Gly529Asp) rs878854025
NM_000527.4(LDLR):c.1637G>T (p.Gly546Val) rs28942081
NM_000527.4(LDLR):c.1646G>A (p.Gly549Asp) rs28941776
NM_000527.4(LDLR):c.1775G>A (p.Gly592Glu) rs137929307
NM_000527.4(LDLR):c.1801G>C (p.Asp601His) rs753707206
NM_000527.4(LDLR):c.1879G>A (p.Ala627Thr) rs879255066
NM_000527.4(LDLR):c.1999T>C (p.Cys667Arg) rs150021927
NM_000527.4(LDLR):c.2448G>C (p.Lys816Asn) rs1399689294
NM_000527.4(LDLR):c.301G>A (p.Glu101Lys) rs144172724
NM_000527.4(LDLR):c.313+2dupT rs875989897
NM_000527.4(LDLR):c.401G>T (p.Cys134Phe) rs879254514
NM_000527.4(LDLR):c.418G>A (p.Glu140Lys) rs748944640
NM_000527.4(LDLR):c.428G>T (p.Cys143Phe) rs879254522
NM_000527.4(LDLR):c.517T>G (p.Cys173Gly) rs879254558
NM_000527.4(LDLR):c.590G>A (p.Cys197Tyr) rs376459828
NM_000527.4(LDLR):c.601G>A (p.Glu201Lys) rs879254589
NM_000527.4(LDLR):c.621C>T (p.Gly207=) rs121908044
NM_000527.4(LDLR):c.643C>A (p.Arg215Ser) rs764042910
NM_000527.4(LDLR):c.646T>C (p.Cys216Arg) rs879254610
NM_000527.4(LDLR):c.666C>G (p.Cys222Trp) rs756613387
NM_000527.4(LDLR):c.684G>C (p.Glu228Asp) rs1208216597
NM_000527.4(LDLR):c.862G>A (p.Glu288Lys) rs368657165
NM_000527.4(LDLR):c.887G>A (p.Cys296Tyr) rs879254707
NM_000527.4(LDLR):c.920A>G (p.Asp307Gly) rs1555803908
NM_000527.4(LDLR):c.941-12G>A rs879254734
NM_000527.4(LDLR):c.953G>A (p.Cys318Tyr) rs879254739
NM_000527.4(LDLR):c.977C>G (p.Ser326Cys) rs879254747

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