ClinVar Miner

List of variants in gene LTBP4 studied for not specified

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Total variants: 81
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HGVS dbSNP gnomAD frequency
NM_001042545.2(LTBP4):c.379G>A (p.Val127Ile) rs2303729 0.50929
NM_001042545.2(LTBP4):c.3687C>T (p.Asp1229=) rs7367 0.50292
NM_001042545.2(LTBP4):c.2158A>G (p.Thr720Ala) rs1131620 0.47295
NM_001042545.2(LTBP4):c.2257A>G (p.Thr753Ala) rs1051303 0.47266
NM_001042545.2(LTBP4):c.3221C>T (p.Thr1074Met) rs10880 0.39072
NM_001042545.2(LTBP4):c.*20G>A rs1051481 0.17303
NM_001042545.2(LTBP4):c.4520-18G>C rs7258772 0.15838
NM_003573.2(LTBP4):c.2144-11C>A rs41470347 0.05552
NM_001042545.2(LTBP4):c.1300T>A (p.Ser434Thr) rs34545902 0.04499
NM_001042545.2(LTBP4):c.3327G>A (p.Val1109=) rs35079932 0.03365
NM_001042545.2(LTBP4):c.1702C>G (p.Arg568Gly) rs33937741 0.02986
NM_001042545.2(LTBP4):c.1834C>G (p.Pro612Ala) rs34299942 0.02447
NM_003573.2(LTBP4):c.4456+8C>T rs80192963 0.01836
NM_001042545.2(LTBP4):c.1125G>A (p.Arg375=) rs41354044 0.01103
NM_001042545.2(LTBP4):c.2175C>T (p.Cys725=) rs141810975 0.00961
NM_001042545.2(LTBP4):c.1968C>T (p.Pro656=) rs140927310 0.00894
NM_001042545.2(LTBP4):c.2812+6C>T rs190107102 0.00874
NM_001042545.2(LTBP4):c.4410C>T (p.Cys1470=) rs115718556 0.00833
NM_001042545.2(LTBP4):c.2053G>A (p.Asp685Asn) rs34093919 0.00763
NM_001042545.2(LTBP4):c.4298A>T (p.Tyr1433Phe) rs35809725 0.00722
NM_001042545.2(LTBP4):c.4400C>T (p.Ala1467Val) rs148715056 0.00713
NM_001042545.2(LTBP4):c.135C>T (p.Cys45=) rs185400394 0.00654
NM_001042544.1(LTBP4):c.108G>A (p.Gln36=) rs184935788 0.00595
NM_003573.2(LTBP4):c.2389+9A>G rs73544980 0.00471
NM_001042545.2(LTBP4):c.1157-17C>G rs181126225 0.00263
NM_001042545.2(LTBP4):c.3129C>T (p.Val1043=) rs78745792 0.00205
NM_001042545.2(LTBP4):c.2681-10C>G rs200914063 0.00084
NM_001042545.2(LTBP4):c.2238C>T (p.Pro746=) rs201588216 0.00055
NM_001042545.2(LTBP4):c.284T>C (p.Val95Ala) rs200888669 0.00038
NM_001042545.2(LTBP4):c.4111G>A (p.Gly1371Arg) rs200607327 0.00034
NM_001042545.2(LTBP4):c.3268G>A (p.Ala1090Thr) rs372105249 0.00016
NM_003573.2(LTBP4):c.16+18C>T rs374791501 0.00016
NM_001042545.2(LTBP4):c.3877G>A (p.Val1293Met) rs376368630 0.00015
NM_001042545.2(LTBP4):c.2176G>C (p.Glu726Gln) rs199691160 0.00013
NM_003573.2(LTBP4):c.25T>C (p.Phe9Leu) rs769281501 0.00012
NM_001042545.2(LTBP4):c.2944+15G>A rs368146894 0.00011
NM_001042545.2(LTBP4):c.1917G>A (p.Ala639=) rs368513626 0.00006
NM_001042545.2(LTBP4):c.3975G>A (p.Ala1325=) rs375560922 0.00006
NM_001042545.2(LTBP4):c.3832+8C>T rs556476928 0.00005
NM_001042545.2(LTBP4):c.211C>T (p.Pro71Ser) rs746506861 0.00004
NM_001042545.2(LTBP4):c.2184G>A (p.Val728=) rs540264614 0.00004
NM_001042545.2(LTBP4):c.3066C>T (p.Cys1022=) rs727503154 0.00004
NM_001042545.2(LTBP4):c.4176C>T (p.Phe1392=) rs376464510 0.00004
NM_001042545.2(LTBP4):c.992-11G>C rs367929270 0.00004
NM_001042545.2(LTBP4):c.2179+9G>A rs375581403 0.00003
NM_001042545.2(LTBP4):c.3363G>A (p.Ala1121=) rs750895520 0.00003
NM_001042545.2(LTBP4):c.3699C>T (p.Cys1233=) rs778594212 0.00003
NM_001042545.2(LTBP4):c.4165C>T (p.Pro1389Ser) rs766093064 0.00003
NM_003573.2(LTBP4):c.230+13T>A rs369658361 0.00003
NM_001042545.2(LTBP4):c.1158G>A (p.Glu386=) rs1015435132 0.00002
NM_001042545.2(LTBP4):c.2638C>T (p.Pro880Ser) rs761312837 0.00002
NM_001042545.2(LTBP4):c.1274G>A (p.Arg425His) rs566716472 0.00001
NM_001042545.2(LTBP4):c.1578C>T (p.Arg526=) rs368999152 0.00001
NM_001042545.2(LTBP4):c.1599C>T (p.Pro533=) rs767751664 0.00001
NM_001042545.2(LTBP4):c.1870C>T (p.Pro624Ser) rs903754296 0.00001
NM_001042545.2(LTBP4):c.2535A>G (p.Gly845=) rs775848118 0.00001
NM_001042545.2(LTBP4):c.2945-16T>C rs1440291779 0.00001
NM_001042545.2(LTBP4):c.2989G>A (p.Val997Met) rs748078658 0.00001
NM_001042545.2(LTBP4):c.3071-20_3071-19del rs1391593992 0.00001
NM_001042545.2(LTBP4):c.3218-8C>T rs1255065335 0.00001
NM_001042545.2(LTBP4):c.3258C>T (p.Pro1086=) rs727503155 0.00001
NM_001042545.2(LTBP4):c.3485C>T (p.Ala1162Val) rs1555741927 0.00001
NM_001042545.2(LTBP4):c.3832+10C>T rs1440756922 0.00001
NM_001042545.2(LTBP4):c.4348G>C (p.Glu1450Gln) rs187448224 0.00001
NM_001042545.2(LTBP4):c.4425C>T (p.Gly1475=) rs774981506 0.00001
NM_001042545.2(LTBP4):c.607T>C (p.Leu203=) rs754839219 0.00001
NM_003573.2(LTBP4):c.9C>T (p.Asp3=) rs1197222123 0.00001
NM_001042545.2(LTBP4):c.1427-13C>G rs727505005
NM_001042545.2(LTBP4):c.2150_2168delinsTCACCCT (p.Gln717_Ser723delinsLeuThrLeu)
NM_001042545.2(LTBP4):c.2565C>T (p.Asp855=) rs2077407
NM_001042545.2(LTBP4):c.2985C>T (p.His995=) rs566212619
NM_001042545.2(LTBP4):c.3035dup (p.Tyr1013fs) rs59030801
NM_001042545.2(LTBP4):c.3484+7_3484+20delinsTGTCCCC rs1555741788
NM_001042545.2(LTBP4):c.3832+11C>G rs1555742755
NM_001042545.2(LTBP4):c.3866G>A (p.Gly1289Glu) rs754438295
NM_001042545.2(LTBP4):c.4018C>T (p.Pro1340Ser) rs370767377
NM_001042545.2(LTBP4):c.4441T>C (p.Cys1481Arg) rs876657866
NM_001042545.2(LTBP4):c.4589del (p.Asp1530fs)
NM_001042545.2(LTBP4):c.555G>T (p.Val185=) rs1555730677
NM_001042545.2(LTBP4):c.794-18C>A rs1057524344
NM_003573.2(LTBP4):c.304A>G (p.Arg102Gly) rs553283319

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