ClinVar Miner

List of variants in gene LDLR reported by CSER _CC_NCGL, University of Washington

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Gene type:
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Total variants: 36
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HGVS dbSNP
NM_000527.5(LDLR):c.1024G>A (p.Asp342Asn)
NM_000527.5(LDLR):c.1057G>A (p.Glu353Lys)
NM_000527.5(LDLR):c.1085A>C (p.Asp362Ala) rs138315511
NM_000527.5(LDLR):c.1166C>T (p.Thr389Met) rs149227308
NM_000527.5(LDLR):c.1201C>G (p.Leu401Val)
NM_000527.5(LDLR):c.1222G>A (p.Glu408Lys) rs137943601
NM_000527.5(LDLR):c.1238C>T (p.Thr413Met) rs368562025
NM_000527.5(LDLR):c.1432G>A (p.Gly478Arg)
NM_000527.5(LDLR):c.1444G>A (p.Asp482Asn) rs139624145
NM_000527.5(LDLR):c.1467C>G (p.Tyr489Ter) rs370777955
NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn)
NM_000527.5(LDLR):c.148G>T (p.Ala50Ser) rs137853960
NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu)
NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp)
NM_000527.5(LDLR):c.1816G>T (p.Ala606Ser) rs72658865
NM_000527.5(LDLR):c.1837G>A (p.Val613Ile)
NM_000527.5(LDLR):c.185C>T (p.Thr62Met)
NM_000527.5(LDLR):c.2252G>A (p.Arg751Gln) rs200142970
NM_000527.5(LDLR):c.2282C>T (p.Thr761Met) rs138477254
NM_000527.5(LDLR):c.232C>T (p.Arg78Cys) rs370860696
NM_000527.5(LDLR):c.2441G>A (p.Arg814Gln)
NM_000527.5(LDLR):c.2475C>G (p.Asn825Lys) rs374045590
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile)
NM_000527.5(LDLR):c.296C>G (p.Ser99Ter) rs377271627
NM_000527.5(LDLR):c.301G>A (p.Glu101Lys) rs144172724
NM_000527.5(LDLR):c.58G>A (p.Gly20Arg) rs147509697
NM_000527.5(LDLR):c.757C>T (p.Arg253Trp)
NM_000527.5(LDLR):c.782G>T (p.Cys261Phe) rs121908040
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu) rs139043155
NM_000527.5(LDLR):c.806G>A (p.Gly269Asp)
NM_000527.5(LDLR):c.859G>A (p.Gly287Ser) rs375495026
NM_000527.5(LDLR):c.862G>A (p.Glu288Lys) rs368657165
NM_000527.5(LDLR):c.907C>T (p.Arg303Trp) rs151207122
NM_000527.5(LDLR):c.910G>A (p.Asp304Asn) rs121908030
NM_000527.5(LDLR):c.967G>A (p.Gly323Ser) rs373869746
NM_000527.5(LDLR):c.970G>A (p.Gly324Ser)

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