ClinVar Miner

List of variants in gene LDLR reported as not provided

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Total variants: 86
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HGVS dbSNP
NM_000527.4(LDLR):c.1105G>A (p.Val369Met) rs730882097
NM_000527.4(LDLR):c.1336C>G (p.Leu446Val) rs375651668
NM_000527.4(LDLR):c.1356C>T (p.Cys452=) rs137853961
NM_000527.4(LDLR):c.1402G>A (p.Val468Ile) rs5932
NM_000527.4(LDLR):c.143G>A (p.Gly48Asp) rs730882077
NM_000527.4(LDLR):c.1547G>A (p.Gly516Asp) rs730882104
NM_000527.4(LDLR):c.1580T>C (p.Val527Ala) rs730882107
NM_000527.4(LDLR):c.1585G>C (p.Gly529Arg)
NM_000527.4(LDLR):c.1765G>C (p.Asp589His) rs201971888
NM_000527.4(LDLR):c.2356A>G (p.Ser786Gly) rs730882114
NM_000527.4(LDLR):c.2398G>A (p.Val800Ile) rs200243555
NM_000527.4(LDLR):c.313+1G>A
NM_000527.4(LDLR):c.314C>T (p.Pro105Leu) rs730882079
NM_000527.4(LDLR):c.653del (p.Gly218fs) rs137853966
NM_000527.4(LDLR):c.790A>C (p.Met264Leu) rs730882088
NM_000527.4(LDLR):c.827G>C (p.Cys276Ser) rs730882089
NM_000527.4(LDLR):c.853C>T (p.His285Tyr)
NM_000527.4(LDLR):c.892A>G (p.Met298Val) rs730882092
NM_000527.4(LDLR):c.908G>A (p.Arg303Gln) rs730882093
NM_000527.4(LDLR):c.988A>C (p.Asn330His) rs730882095
NM_000527.5(LDLR):c.1003G>A (p.Gly335Ser) rs544453230
NM_000527.5(LDLR):c.1024G>A (p.Asp342Asn)
NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser)
NM_000527.5(LDLR):c.1057G>A (p.Glu353Lys)
NM_000527.5(LDLR):c.1133A>C (p.Gln378Pro) rs730882098
NM_000527.5(LDLR):c.1171G>A (p.Ala391Thr)
NM_000527.5(LDLR):c.1195G>A (p.Ala399Thr) rs730882099
NM_000527.5(LDLR):c.1246C>T (p.Arg416Trp)
NM_000527.5(LDLR):c.1294C>G (p.Leu432Val) rs730882100
NM_000527.5(LDLR):c.1381G>T (p.Gly461Cys) rs193922568
NM_000527.5(LDLR):c.1393T>A (p.Tyr465Asn) rs730882101
NM_000527.5(LDLR):c.1414G>T (p.Asp472Tyr) rs730882102
NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn)
NM_000527.5(LDLR):c.148G>T (p.Ala50Ser) rs137853960
NM_000527.5(LDLR):c.1510A>G (p.Lys504Glu) rs730882103
NM_000527.5(LDLR):c.1567G>A (p.Val523Met)
NM_000527.5(LDLR):c.1570G>A (p.Val524Met)
NM_000527.5(LDLR):c.1576C>T (p.Pro526Ser) rs730882106
NM_000527.5(LDLR):c.1646G>A (p.Gly549Asp)
NM_000527.5(LDLR):c.1720C>T (p.Arg574Cys) rs185098634
NM_000527.5(LDLR):c.1747C>G (p.His583Asp) rs730882109
NM_000527.5(LDLR):c.1761C>G (p.Ser587Arg) rs753430282
NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu)
NM_000527.5(LDLR):c.1784G>A (p.Arg595Gln) rs201102492
NM_000527.5(LDLR):c.1816G>T (p.Ala606Ser) rs72658865
NM_000527.5(LDLR):c.185C>T (p.Thr62Met)
NM_000527.5(LDLR):c.1875C>T (p.Asn625=) rs137853962
NM_000527.5(LDLR):c.1876G>A (p.Glu626Lys)
NM_000527.5(LDLR):c.1951G>A (p.Asp651Asn) rs730882110
NM_000527.5(LDLR):c.1954A>G (p.Met652Val) rs730882111
NM_000527.5(LDLR):c.2054C>T (p.Pro685Leu)
NM_000527.5(LDLR):c.2061dup (p.Asn688fs) rs137853965
NM_000527.5(LDLR):c.2101G>A (p.Gly701Ser) rs368838866
NM_000527.5(LDLR):c.2177C>T (p.Thr726Ile)
NM_000527.5(LDLR):c.2231G>A (p.Arg744Gln)
NM_000527.5(LDLR):c.2242G>A (p.Asp748Asn) rs150104358
NM_000527.5(LDLR):c.2282C>T (p.Thr761Met) rs138477254
NM_000527.5(LDLR):c.241C>T (p.Arg81Cys)
NM_000527.5(LDLR):c.2441G>A (p.Arg814Gln)
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile)
NM_000527.5(LDLR):c.2483A>G (p.Tyr828Cys)
NM_000527.5(LDLR):c.301G>A (p.Glu101Lys) rs144172724
NM_000527.5(LDLR):c.352G>T (p.Asp118Tyr) rs730882080
NM_000527.5(LDLR):c.409G>A (p.Gly137Ser) rs730882082
NM_000527.5(LDLR):c.502G>A (p.Asp168Asn) rs200727689
NM_000527.5(LDLR):c.530C>T (p.Ser177Leu)
NM_000527.5(LDLR):c.542C>G (p.Pro181Arg) rs557344672
NM_000527.5(LDLR):c.589T>C (p.Cys197Arg) rs730882085
NM_000527.5(LDLR):c.58G>A (p.Gly20Arg) rs147509697
NM_000527.5(LDLR):c.656G>A (p.Gly219Asp) rs201384282
NM_000527.5(LDLR):c.662A>G (p.Asp221Gly)
NM_000527.5(LDLR):c.665G>A (p.Cys222Tyr) rs730882086
NM_000527.5(LDLR):c.757C>T (p.Arg253Trp)
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu) rs139043155
NM_000527.5(LDLR):c.806G>A (p.Gly269Asp)
NM_000527.5(LDLR):c.829G>A (p.Glu277Lys)
NM_000527.5(LDLR):c.846C>A (p.Phe282Leu) rs730882090
NM_000527.5(LDLR):c.940G>A (p.Gly314Arg) rs72658858
NM_000527.5(LDLR):c.947A>G (p.Asn316Ser) rs730882094
NM_000527.5(LDLR):c.970G>A (p.Gly324Ser)
NM_001195800.2(LDLR):c.314-1941A>G rs730882084
NM_001195800.2(LDLR):c.314-2076G>T rs730882083
NM_001195800.2(LDLR):c.314-2094A>G rs730882081
NM_001195800.2(LDLR):c.314-752_314-751delinsAC rs730882087
NM_001195803.2(LDLR):c.1606+265A>G rs730882112
NM_001195803.2(LDLR):c.1606+275G>A rs730882113

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