ClinVar Miner

List of variants in gene LDLR reported as pathogenic by GeneDx

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Gene type:
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Total variants: 117
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HGVS dbSNP gnomAD frequency
NM_000527.5(LDLR):c.910G>A (p.Asp304Asn) rs121908030 0.00006
NM_000527.5(LDLR):c.1444G>A (p.Asp482Asn) rs139624145 0.00004
NM_000527.5(LDLR):c.718G>A (p.Glu240Lys) rs768563000 0.00004
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu) rs139043155 0.00004
NM_000527.5(LDLR):c.1474G>C (p.Asp492His) rs373646964 0.00003
NM_000527.5(LDLR):c.1747C>T (p.His583Tyr) rs730882109 0.00003
NM_000527.5(LDLR):c.682G>T (p.Glu228Ter) rs121908029 0.00003
NM_000527.5(LDLR):c.862G>A (p.Glu288Lys) rs368657165 0.00003
NM_000527.5(LDLR):c.1335C>A (p.Asp445Glu) rs749780672 0.00002
NM_000527.5(LDLR):c.268G>A (p.Asp90Asn) rs749038326 0.00002
NM_000527.5(LDLR):c.1061-1G>C rs879254774 0.00001
NM_000527.5(LDLR):c.1222G>A (p.Glu408Lys) rs137943601 0.00001
NM_000527.5(LDLR):c.1414G>T (p.Asp472Tyr) rs730882102 0.00001
NM_000527.5(LDLR):c.1784G>A (p.Arg595Gln) rs201102492 0.00001
NM_000527.5(LDLR):c.1846-1G>A rs879255051 0.00001
NM_000527.5(LDLR):c.190+4A>T rs769446356 0.00001
NM_000527.5(LDLR):c.2029T>C (p.Cys677Arg) rs775092314 0.00001
NM_000527.5(LDLR):c.2140G>T (p.Glu714Ter) rs869320652 0.00001
NM_000527.5(LDLR):c.223T>A (p.Cys75Ser) rs879254439 0.00001
NM_000527.5(LDLR):c.259T>G (p.Trp87Gly) rs121908025 0.00001
NM_000527.5(LDLR):c.301G>A (p.Glu101Lys) rs144172724 0.00001
NM_000527.5(LDLR):c.313+2T>C rs793888517 0.00001
NM_000527.5(LDLR):c.314-2A>C rs879254470 0.00001
NM_000527.5(LDLR):c.337G>A (p.Glu113Lys) rs769383881 0.00001
NM_000527.5(LDLR):c.502G>A (p.Asp168Asn) rs200727689 0.00001
NM_000527.5(LDLR):c.523G>A (p.Asp175Asn) rs121908033 0.00001
NM_000527.5(LDLR):c.664T>C (p.Cys222Arg) rs577934998 0.00001
NM_000527.5(LDLR):c.796G>A (p.Asp266Asn) rs875989907 0.00001
NM_000527.5(LDLR):c.820del (p.Thr274fs) rs751122998 0.00001
NM_000527.4(LDLR):c.313+1G>A
NM_000527.5(LDLR):c.1012T>A (p.Cys338Ser) rs879254753
NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser)
NM_000527.5(LDLR):c.1037dup (p.Val347fs) rs2147239145
NM_000527.5(LDLR):c.1048C>T (p.Arg350Ter)
NM_000527.5(LDLR):c.1056_1060+3del rs879254770
NM_000527.5(LDLR):c.1090T>C (p.Cys364Arg)
NM_000527.5(LDLR):c.1118_1121dup (p.Tyr375fs) rs875989916
NM_000527.5(LDLR):c.1135T>C (p.Cys379Arg)
NM_000527.5(LDLR):c.1176C>A (p.Cys392Ter)
NM_000527.5(LDLR):c.1177_1181dup (p.Val395fs) rs2147241957
NM_000527.5(LDLR):c.1187-2A>G rs879254823
NM_000527.5(LDLR):c.1216C>T (p.Arg406Trp)
NM_000527.5(LDLR):c.1246C>T (p.Arg416Trp)
NM_000527.5(LDLR):c.1285G>A (p.Val429Met)
NM_000527.5(LDLR):c.1291G>A (p.Ala431Thr)
NM_000527.5(LDLR):c.131G>A (p.Trp44Ter) rs267607213
NM_000527.5(LDLR):c.1358+2T>A rs193922567
NM_000527.5(LDLR):c.1415_1418dup (p.Gln474fs) rs879254892
NM_000527.5(LDLR):c.1428dup (p.Asp477fs) rs876657697
NM_000527.5(LDLR):c.1432G>A (p.Gly478Arg)
NM_000527.5(LDLR):c.1439C>T (p.Ala480Val) rs1064794259
NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn)
NM_000527.5(LDLR):c.1478_1479del (p.Ser493fs) rs869025453
NM_000527.5(LDLR):c.1540G>T (p.Glu514Ter) rs1555805507
NM_000527.5(LDLR):c.1646G>A (p.Gly549Asp)
NM_000527.5(LDLR):c.1706-1G>C rs879254996
NM_000527.5(LDLR):c.1731G>T (p.Trp577Cys) rs875989928
NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu)
NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp)
NM_000527.5(LDLR):c.1845+2del
NM_000527.5(LDLR):c.1878del (p.Ala627fs) rs1057516134
NM_000527.5(LDLR):c.1897C>T (p.Arg633Cys)
NM_000527.5(LDLR):c.1911del (p.Asp638fs) rs867272973
NM_000527.5(LDLR):c.1978C>T (p.Gln660Ter) rs193922569
NM_000527.5(LDLR):c.1999T>C (p.Cys667Arg)
NM_000527.5(LDLR):c.2000G>A (p.Cys667Tyr) rs28942083
NM_000527.5(LDLR):c.2043C>A (p.Cys681Ter)
NM_000527.5(LDLR):c.2054C>T (p.Pro685Leu)
NM_000527.5(LDLR):c.2140+1G>A rs145787161
NM_000527.5(LDLR):c.214del (p.Asp72fs) rs879254438
NM_000527.5(LDLR):c.2215C>T (p.Gln739Ter) rs370018159
NM_000527.5(LDLR):c.2271del (p.Leu759fs)
NM_000527.5(LDLR):c.2312-3C>A
NM_000527.5(LDLR):c.2389+1G>A rs879255186
NM_000527.5(LDLR):c.2389G>A (p.Val797Met)
NM_000527.5(LDLR):c.2416dup (p.Val806fs)
NM_000527.5(LDLR):c.2430G>A (p.Trp810Ter) rs879255210
NM_000527.5(LDLR):c.2475C>G (p.Asn825Lys) rs374045590
NM_000527.5(LDLR):c.2478del (p.Val827fs) rs747344293
NM_000527.5(LDLR):c.2483A>G (p.Tyr828Cys)
NM_000527.5(LDLR):c.249delinsGG (p.Ile83fs) rs1600704961
NM_000527.5(LDLR):c.304C>T (p.Gln102Ter) rs563390335
NM_000527.5(LDLR):c.313+1G>C rs112029328
NM_000527.5(LDLR):c.313+5G>A
NM_000527.5(LDLR):c.313_313+1del rs875989896
NM_000527.5(LDLR):c.314-1G>A rs879254471
NM_000527.5(LDLR):c.337G>T (p.Glu113Ter)
NM_000527.5(LDLR):c.463T>G (p.Cys155Gly) rs879254535
NM_000527.5(LDLR):c.513del (p.Asp172fs) rs879254552
NM_000527.5(LDLR):c.519C>G (p.Cys173Trp) rs769318035
NM_000527.5(LDLR):c.530C>T (p.Ser177Leu)
NM_000527.5(LDLR):c.551G>A (p.Cys184Tyr)
NM_000527.5(LDLR):c.589T>G (p.Cys197Gly) rs730882085
NM_000527.5(LDLR):c.621C>T (p.Gly207=) rs121908044
NM_000527.5(LDLR):c.622G>A (p.Glu208Lys) rs879254597
NM_000527.5(LDLR):c.651TGG[1] (p.Gly219del) rs121908027
NM_000527.5(LDLR):c.653del (p.Gly218fs) rs137853966
NM_000527.5(LDLR):c.660del (p.Asp221fs) rs875989905
NM_000527.5(LDLR):c.661G>A (p.Asp221Asn) rs875989906
NM_000527.5(LDLR):c.662A>G (p.Asp221Gly)
NM_000527.5(LDLR):c.666C>A (p.Cys222Ter) rs756613387
NM_000527.5(LDLR):c.68-1G>C rs879254397
NM_000527.5(LDLR):c.68-2A>T rs879254396
NM_000527.5(LDLR):c.680_681del (p.Asp227fs) rs387906305
NM_000527.5(LDLR):c.680_682delinsCGGTATGGACTGCA (p.Asp227fs) rs879254637
NM_000527.5(LDLR):c.681C>G (p.Asp227Glu) rs121908028
NM_000527.5(LDLR):c.682G>A (p.Glu228Lys)
NM_000527.5(LDLR):c.682G>C (p.Glu228Gln)
NM_000527.5(LDLR):c.683A>C (p.Glu228Ala) rs879254642
NM_000527.5(LDLR):c.6del (p.Trp4fs) rs875989888
NM_000527.5(LDLR):c.81C>G (p.Cys27Trp)
NM_000527.5(LDLR):c.827G>A (p.Cys276Tyr) rs730882089
NM_000527.5(LDLR):c.858C>A (p.Ser286Arg) rs140241383
NM_000527.5(LDLR):c.932_939delinsGAGAGTGG (p.Lys311_Cys313delinsArgGluTrp) rs1555803913
NM_000527.5(LDLR):c.938_939delinsAT (p.Cys313Tyr) rs875989910
NM_000527.5(LDLR):c.952T>C (p.Cys318Arg) rs879254738
NM_000527.5(LDLR):c.97C>T (p.Gln33Ter)

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