ClinVar Miner

List of variants in gene LDLR reported as uncertain significance for Familial hypercholesterolemias

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Total variants: 46
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HGVS dbSNP
NM_000527.4(LDLR):c.-107T>C
NM_000527.4(LDLR):c.-121T>C rs777716188
NM_000527.4(LDLR):c.-153C>T rs879254366
NM_000527.4(LDLR):c.1057G>A (p.Glu353Lys) rs370471092
NM_000527.4(LDLR):c.1078G>C (p.Asp360His) rs777926251
NM_000527.4(LDLR):c.1085A>C (p.Asp362Ala) rs138315511
NM_000527.4(LDLR):c.1238C>T (p.Thr413Met) rs368562025
NM_000527.4(LDLR):c.1367T>C (p.Leu456Pro) rs200143634
NM_000527.4(LDLR):c.1516G>A (p.Val506Met) rs373848925
NM_000527.4(LDLR):c.1533A>T (p.Leu511Phe)
NM_000527.4(LDLR):c.1640T>C (p.Leu547Pro) rs879254968
NM_000527.4(LDLR):c.1761C>G (p.Ser587Arg) rs753430282
NM_000527.4(LDLR):c.1765G>A (p.Asp589Asn) rs201971888
NM_000527.4(LDLR):c.1816G>A (p.Ala606Thr) rs72658865
NM_000527.4(LDLR):c.1846-9C>A
NM_000527.4(LDLR):c.185C>T (p.Thr62Met) rs376207800
NM_000527.4(LDLR):c.1874A>C (p.Asn625Thr) rs879255064
NM_000527.4(LDLR):c.1876G>A (p.Glu626Lys) rs139791325
NM_000527.4(LDLR):c.1912G>A (p.Asp638Asn)
NM_000527.4(LDLR):c.1928C>T (p.Ala643Val) rs879255075
NM_000527.4(LDLR):c.1955T>C (p.Met652Thr) rs875989936
NM_000527.4(LDLR):c.1957G>A (p.Val653Ile)
NM_000527.4(LDLR):c.200C>T (p.Thr67Ile)
NM_000527.4(LDLR):c.2098G>A (p.Asp700Asn) rs375009082
NM_000527.4(LDLR):c.2180T>A (p.Val727Asp)
NM_000527.4(LDLR):c.2206G>A (p.Val736Ile) rs547268730
NM_000527.4(LDLR):c.2269C>G (p.Pro757Ala)
NM_000527.4(LDLR):c.2301G>A (p.Met767Ile)
NM_000527.4(LDLR):c.2323G>A (p.Val775Ile)
NM_000527.4(LDLR):c.233G>A (p.Arg78His) rs146675823
NM_000527.4(LDLR):c.2416G>T (p.Val806Phe)
NM_000527.4(LDLR):c.2497G>A (p.Glu833Lys)
NM_000527.4(LDLR):c.2499G>T (p.Glu833Asp)
NM_000527.4(LDLR):c.2510A>G (p.His837Arg)
NM_000527.4(LDLR):c.2563C>A (p.Leu855Met)
NM_000527.4(LDLR):c.286G>A (p.Asp96Asn)
NM_000527.4(LDLR):c.299A>T (p.Asp100Val) rs879254460
NM_000527.4(LDLR):c.313C>T (p.Pro105Ser) rs13306510
NM_000527.4(LDLR):c.344G>A (p.Arg115His) rs201102461
NM_000527.4(LDLR):c.64G>T (p.Ala22Ser)
NM_000527.4(LDLR):c.710G>A (p.Arg237His) rs148171426
NM_000527.4(LDLR):c.712C>G (p.Pro238Ala)
NM_000527.4(LDLR):c.769C>T (p.Arg257Trp) rs200990725
NM_000527.4(LDLR):c.871A>C (p.Thr291Pro) rs766754788
NM_000527.4(LDLR):c.91G>A (p.Glu31Lys) rs776421777
NM_000527.4(LDLR):c.929T>A (p.Ile310Asn)

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