ClinVar Miner

List of variants in gene LAMP2 reported by Ambry Genetics

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Gene type:
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Total variants: 110
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HGVS dbSNP gnomAD frequency
NM_002294.3(LAMP2):c.156A>T (p.Val52=) rs12097 0.39324
NM_002294.3(LAMP2):c.927C>T (p.Ser309=) rs73219144 0.02702
NM_002294.3(LAMP2):c.1093+2514G>A rs144140265 0.00404
NM_002294.3(LAMP2):c.661G>A (p.Gly221Arg) rs145169006 0.00193
NM_002294.3(LAMP2):c.755T>G (p.Ile252Ser) rs141541387 0.00119
NM_002294.3(LAMP2):c.339C>T (p.Ser113=) rs147369153 0.00066
NM_002294.3(LAMP2):c.385G>A (p.Ala129Thr) rs149276836 0.00045
NM_002294.3(LAMP2):c.586A>T (p.Thr196Ser) rs138991195 0.00039
NM_002294.3(LAMP2):c.1142T>C (p.Val381Ala) rs139633545 0.00026
NM_002294.3(LAMP2):c.1093+2450G>A rs149783672 0.00015
NM_002294.3(LAMP2):c.73C>T (p.Arg25Trp) rs730880478 0.00015
NM_002294.3(LAMP2):c.591G>A (p.Val197=) rs201030806 0.00014
NM_002294.3(LAMP2):c.42C>T (p.Leu14=) rs727503122 0.00009
NM_002294.3(LAMP2):c.769A>G (p.Asn257Asp) rs369032377 0.00009
NM_002294.3(LAMP2):c.515T>C (p.Leu172Pro) rs371174243 0.00007
NM_002294.3(LAMP2):c.443A>G (p.Asn148Ser) rs766491800 0.00006
NM_002294.3(LAMP2):c.158G>A (p.Arg53His) rs397516735 0.00005
NM_002294.3(LAMP2):c.264A>T (p.Ile88=) rs779524035 0.00005
NM_002294.3(LAMP2):c.32G>T (p.Gly11Val) rs3180515 0.00005
NM_002294.3(LAMP2):c.771T>C (p.Asn257=) rs138435481 0.00005
NM_002294.3(LAMP2):c.1091C>T (p.Thr364Ile) rs183781327 0.00004
NM_002294.3(LAMP2):c.1137A>G (p.Ile379Met) rs730880126 0.00004
NM_002294.3(LAMP2):c.29C>T (p.Pro10Leu) rs769378984 0.00004
NM_002294.3(LAMP2):c.517G>A (p.Val173Ile) rs141574558 0.00004
NM_002294.3(LAMP2):c.1000G>C (p.Glu334Gln) rs766962315 0.00003
NM_002294.3(LAMP2):c.1083G>A (p.Lys361=) rs1334549485 0.00003
NM_002294.3(LAMP2):c.204C>G (p.Asp68Glu) rs376215728 0.00003
NM_002294.3(LAMP2):c.300G>A (p.Ala100=) rs765548221 0.00003
NM_002294.3(LAMP2):c.320C>G (p.Ser107Cys) rs730880497 0.00003
NM_002294.3(LAMP2):c.398-3T>C rs1045629648 0.00003
NM_002294.3(LAMP2):c.472A>G (p.Thr158Ala) rs138374063 0.00003
NM_002294.3(LAMP2):c.519A>G (p.Val173=) rs1060504543 0.00003
NM_002294.3(LAMP2):c.601A>G (p.Ile201Val) rs1362738445 0.00003
NM_002294.3(LAMP2):c.640C>A (p.Pro214Thr) rs776101722 0.00003
NM_002294.3(LAMP2):c.750A>C (p.Ser250=) rs765836082 0.00003
NM_002294.3(LAMP2):c.999A>C (p.Lys333Asn) rs1341268966 0.00003
NM_002294.3(LAMP2):c.1116C>T (p.Asp372=) rs749338632 0.00002
NM_002294.3(LAMP2):c.1160G>C (p.Gly387Ala) rs2058522449 0.00002
NM_002294.3(LAMP2):c.183T>C (p.Tyr61=) rs397516736 0.00002
NM_002294.3(LAMP2):c.277G>A (p.Gly93Arg) rs727504953 0.00002
NM_002294.3(LAMP2):c.284G>T (p.Gly95Val) rs755790073 0.00002
NM_002294.3(LAMP2):c.340G>A (p.Val114Ile) rs377652722 0.00002
NM_002294.3(LAMP2):c.74G>A (p.Arg25Gln) rs750118236 0.00002
NM_002294.3(LAMP2):c.778C>T (p.His260Tyr) rs778577575 0.00002
NM_002294.3(LAMP2):c.797G>A (p.Arg266His) rs200934351 0.00002
NM_002294.3(LAMP2):c.960C>T (p.Tyr320=) rs371959861 0.00002
NM_002294.3(LAMP2):c.1067A>G (p.Asn356Ser) rs775416221 0.00001
NM_002294.3(LAMP2):c.1069G>A (p.Val357Met) rs886038907 0.00001
NM_002294.3(LAMP2):c.1080A>G (p.Gly360=) rs1476303419 0.00001
NM_002294.3(LAMP2):c.1140G>A (p.Ala380=) rs1029569080 0.00001
NM_002294.3(LAMP2):c.1191T>C (p.Phe397=) rs752231323 0.00001
NM_002294.3(LAMP2):c.188C>T (p.Thr63Ile) rs1358581771 0.00001
NM_002294.3(LAMP2):c.205C>T (p.His69Tyr) rs776875696 0.00001
NM_002294.3(LAMP2):c.209G>T (p.Gly70Val) rs1340367353 0.00001
NM_002294.3(LAMP2):c.23C>T (p.Pro8Leu) rs878854484 0.00001
NM_002294.3(LAMP2):c.253G>A (p.Gly85Ser) rs371149731 0.00001
NM_002294.3(LAMP2):c.30G>A (p.Pro10=) rs11540224 0.00001
NM_002294.3(LAMP2):c.461A>G (p.Asn154Ser) rs773525538 0.00001
NM_002294.3(LAMP2):c.520C>A (p.Gln174Lys) rs104894857 0.00001
NM_002294.3(LAMP2):c.572A>T (p.Lys191Ile) rs767918596 0.00001
NM_002294.3(LAMP2):c.605A>C (p.His202Pro) rs730880475 0.00001
NM_002294.3(LAMP2):c.959A>G (p.Tyr320Cys) rs1292531971 0.00001
NM_002294.3(LAMP2):c.972C>G (p.Pro324=) rs1229203142 0.00001
NM_002294.3(LAMP2):c.-4G>C rs200297370
NM_002294.3(LAMP2):c.1015G>C (p.Val339Leu) rs1602532154
NM_002294.3(LAMP2):c.1040C>G (p.Thr347Ser) rs730880487
NM_002294.3(LAMP2):c.1075C>T (p.Gln359Ter) rs1057517940
NM_002294.3(LAMP2):c.1089T>C (p.Ser363=)
NM_002294.3(LAMP2):c.1094-1G>C rs1331940434
NM_002294.3(LAMP2):c.1095T>C (p.Ala365=)
NM_002294.3(LAMP2):c.109G>T (p.Glu37Ter)
NM_002294.3(LAMP2):c.1105A>G (p.Ser369Gly)
NM_002294.3(LAMP2):c.1204C>T (p.His402Tyr)
NM_002294.3(LAMP2):c.1227A>G (p.Gln409=)
NM_002294.3(LAMP2):c.150C>T (p.Phe50=) rs1057521701
NM_002294.3(LAMP2):c.183+1G>A rs727503120
NM_002294.3(LAMP2):c.199T>C (p.Ser67Pro) rs2147286966
NM_002294.3(LAMP2):c.25G>C (p.Val9Leu) rs1921665698
NM_002294.3(LAMP2):c.260A>G (p.Lys87Arg)
NM_002294.3(LAMP2):c.281C>A (p.Pro94His)
NM_002294.3(LAMP2):c.300G>C (p.Ala100=) rs765548221
NM_002294.3(LAMP2):c.300G>T (p.Ala100=) rs765548221
NM_002294.3(LAMP2):c.316G>A (p.Ala106Thr) rs1305798857
NM_002294.3(LAMP2):c.371C>T (p.Thr124Ile) rs397516744
NM_002294.3(LAMP2):c.371_375del (p.Thr124fs)
NM_002294.3(LAMP2):c.42C>G (p.Leu14=) rs727503122
NM_002294.3(LAMP2):c.45T>G (p.Val15=)
NM_002294.3(LAMP2):c.49G>A (p.Val17Ile) rs777718603
NM_002294.3(LAMP2):c.576C>T (p.Asp192=) rs1569369724
NM_002294.3(LAMP2):c.617C>T (p.Pro206Leu) rs1602535864
NM_002294.3(LAMP2):c.632C>T (p.Thr211Ile)
NM_002294.3(LAMP2):c.638C>T (p.Thr213Ile)
NM_002294.3(LAMP2):c.64+4delinsGT rs1556123906
NM_002294.3(LAMP2):c.676A>G (p.Asn226Asp)
NM_002294.3(LAMP2):c.696T>A (p.Cys232Ter) rs1556101523
NM_002294.3(LAMP2):c.710T>A (p.Met237Lys)
NM_002294.3(LAMP2):c.741+1G>A rs1251075016
NM_002294.3(LAMP2):c.741G>A (p.Lys247=)
NM_002294.3(LAMP2):c.741G>T (p.Lys247Asn) rs1556101296
NM_002294.3(LAMP2):c.742-7_742-5del rs779710402
NM_002294.3(LAMP2):c.802C>T (p.His268Tyr)
NM_002294.3(LAMP2):c.864+3_864+6del rs397516751
NM_002294.3(LAMP2):c.864+5G>T rs1352584474
NM_002294.3(LAMP2):c.877C>A (p.Arg293=) rs727503118
NM_002294.3(LAMP2):c.887T>G (p.Leu296Arg) rs730880486
NM_002294.3(LAMP2):c.8G>C (p.Cys3Ser)
NM_002294.3(LAMP2):c.911_914del (p.Tyr304fs)
NM_002294.3(LAMP2):c.928G>A (p.Val310Ile) rs104894858
NM_002294.3(LAMP2):c.970C>T (p.Pro324Ser) rs866736614
NM_002294.3(LAMP2):c.9C>T (p.Cys3=)

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