ClinVar Miner

List of variants in gene LRP2 reported as pathogenic for not provided

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Gene type:
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Total variants: 85
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HGVS dbSNP gnomAD frequency
NM_004525.3(LRP2):c.13753C>T (p.Arg4585Ter) rs202057289 0.00003
NM_004525.3(LRP2):c.10660C>T (p.Arg3554Ter) rs768458485 0.00001
NM_004525.3(LRP2):c.2639+1G>A rs746752313 0.00001
NM_004525.3(LRP2):c.6283C>T (p.Arg2095Ter) rs753549113 0.00001
NM_004525.3(LRP2):c.10010G>A (p.Trp3337Ter)
NM_004525.3(LRP2):c.10195C>T (p.Arg3399Ter) rs80338752
NM_004525.3(LRP2):c.10461dup (p.Gly3488fs)
NM_004525.3(LRP2):c.10575C>A (p.Cys3525Ter) rs750123001
NM_004525.3(LRP2):c.1093C>T (p.Arg365Ter) rs80338744
NM_004525.3(LRP2):c.10948C>T (p.Gln3650Ter)
NM_004525.3(LRP2):c.11276del (p.Cys3759fs) rs2105276037
NM_004525.3(LRP2):c.11287G>T (p.Glu3763Ter)
NM_004525.3(LRP2):c.11293C>T (p.Arg3765Ter)
NM_004525.3(LRP2):c.11323C>T (p.Arg3775Ter) rs372938477
NM_004525.3(LRP2):c.11343C>A (p.Tyr3781Ter)
NM_004525.3(LRP2):c.11530dup (p.Ala3844fs) rs2105272332
NM_004525.3(LRP2):c.12000dup (p.Asp4001Ter)
NM_004525.3(LRP2):c.12136C>T (p.Arg4046Ter)
NM_004525.3(LRP2):c.12187C>T (p.Arg4063Ter) rs762645702
NM_004525.3(LRP2):c.12357C>G (p.Tyr4119Ter)
NM_004525.3(LRP2):c.12556C>T (p.Gln4186Ter) rs1686095309
NM_004525.3(LRP2):c.12585_12588del (p.Leu4196fs)
NM_004525.3(LRP2):c.12641G>A (p.Trp4214Ter)
NM_004525.3(LRP2):c.12689G>A (p.Trp4230Ter) rs2105348555
NM_004525.3(LRP2):c.12872del (p.Lys4291fs)
NM_004525.3(LRP2):c.12967C>T (p.Gln4323Ter)
NM_004525.3(LRP2):c.13063C>T (p.Gln4355Ter)
NM_004525.3(LRP2):c.13139del (p.Pro4380fs) rs80338754
NM_004525.3(LRP2):c.13139dup (p.Cys4381fs) rs80338754
NM_004525.3(LRP2):c.13159G>T (p.Gly4387Ter)
NM_004525.3(LRP2):c.13200-2A>G rs2105338187
NM_004525.3(LRP2):c.13262del (p.Gly4421fs)
NM_004525.3(LRP2):c.13306del (p.Val4435_Val4436insTer)
NM_004525.3(LRP2):c.13443del (p.Ala4483fs)
NM_004525.3(LRP2):c.13587dup (p.Asp4530fs)
NM_004525.3(LRP2):c.13602del (p.Val4535fs)
NM_004525.3(LRP2):c.13660del (p.Ser4554fs) rs2105327752
NM_004525.3(LRP2):c.144dup (p.Gly49fs)
NM_004525.3(LRP2):c.1738del (p.Tyr580fs)
NM_004525.3(LRP2):c.2359G>T (p.Glu787Ter)
NM_004525.3(LRP2):c.2379G>A (p.Trp793Ter)
NM_004525.3(LRP2):c.2397T>G (p.Tyr799Ter)
NM_004525.3(LRP2):c.2474del (p.Tyr824_Leu825insTer) rs1553504456
NM_004525.3(LRP2):c.2564G>A (p.Trp855Ter)
NM_004525.3(LRP2):c.2757del (p.Ala920fs)
NM_004525.3(LRP2):c.2843_2844del (p.Thr948fs)
NM_004525.3(LRP2):c.2851del (p.Arg951fs)
NM_004525.3(LRP2):c.2894dup (p.Asn966fs) rs2105394755
NM_004525.3(LRP2):c.2922T>A (p.Cys974Ter)
NM_004525.3(LRP2):c.3104del (p.Asn1035fs)
NM_004525.3(LRP2):c.3202del (p.Ser1068fs)
NM_004525.3(LRP2):c.3203C>G (p.Ser1068Ter)
NM_004525.3(LRP2):c.3287del (p.Ser1096fs)
NM_004525.3(LRP2):c.3334_3335del (p.Thr1112fs)
NM_004525.3(LRP2):c.3416_3428del (p.Asp1139fs)
NM_004525.3(LRP2):c.345C>A (p.Cys115Ter)
NM_004525.3(LRP2):c.3478C>T (p.Arg1160Ter)
NM_004525.3(LRP2):c.3786_3793dup (p.Ala1265fs)
NM_004525.3(LRP2):c.4271del (p.Asp1424fs)
NM_004525.3(LRP2):c.427C>T (p.Gln143Ter)
NM_004525.3(LRP2):c.4572C>G (p.Tyr1524Ter) rs2105377192
NM_004525.3(LRP2):c.4706del (p.Phe1569fs)
NM_004525.3(LRP2):c.4968C>G (p.Tyr1656Ter)
NM_004525.3(LRP2):c.4999C>T (p.Arg1667Ter)
NM_004525.3(LRP2):c.5243_5244insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCCAACCTTTCTT (p.Leu1748delinsPhePhePhePhePhePhePheXaaXaaXaaXaaGlyPheHisArgPheSerArgAspGlyLeuAspLeuLeuThrSerTer) rs2105361718
NM_004525.3(LRP2):c.5326_5336del (p.Gly1776fs)
NM_004525.3(LRP2):c.6129C>A (p.Cys2043Ter)
NM_004525.3(LRP2):c.6135_6136del (p.Ala2046fs)
NM_004525.3(LRP2):c.623_624delinsAA (p.Cys208Ter)
NM_004525.3(LRP2):c.6673C>T (p.Arg2225Ter) rs866520787
NM_004525.3(LRP2):c.6727C>T (p.Arg2243Ter)
NM_004525.3(LRP2):c.6978dup (p.Thr2327fs) rs1574132879
NM_004525.3(LRP2):c.697C>T (p.Arg233Ter)
NM_004525.3(LRP2):c.702C>A (p.Cys234Ter)
NM_004525.3(LRP2):c.709C>T (p.Gln237Ter)
NM_004525.3(LRP2):c.7560C>A (p.Tyr2520Ter)
NM_004525.3(LRP2):c.832C>T (p.Arg278Ter) rs1358532875
NM_004525.3(LRP2):c.837C>A (p.Cys279Ter)
NM_004525.3(LRP2):c.8452+1G>A rs80338748
NM_004525.3(LRP2):c.8530G>T (p.Gly2844Ter) rs533432746
NM_004525.3(LRP2):c.931_932del (p.Leu311fs)
NM_004525.3(LRP2):c.9550C>T (p.Arg3184Ter)
NM_004525.3(LRP2):c.9621C>A (p.Tyr3207Ter)
NM_004525.3(LRP2):c.9651T>G (p.Tyr3217Ter)
NM_004525.3(LRP2):c.9706C>T (p.Arg3236Ter)

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