ClinVar Miner

List of variants in gene LOC121832793, LTBP3 studied for Brachyolmia-amelogenesis imperfecta syndrome

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Total variants: 124
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HGVS dbSNP gnomAD frequency
NM_001130144.3(LTBP3):c.3108C>T (p.Asp1036=) rs79320058 0.01540
NM_001130144.3(LTBP3):c.3012T>C (p.Ile1004=) rs151139557 0.01204
NM_001130144.3(LTBP3):c.3233C>T (p.Pro1078Leu) rs201735019 0.00047
NM_001130144.3(LTBP3):c.3210C>T (p.Pro1070=) rs377594002 0.00015
NM_001130144.3(LTBP3):c.3238G>A (p.Glu1080Lys) rs907483608 0.00015
NM_001130144.3(LTBP3):c.3245-4G>A rs753454432 0.00006
NM_001130144.3(LTBP3):c.3009G>A (p.Glu1003=) rs142872641 0.00005
NM_001130144.3(LTBP3):c.3103G>A (p.Val1035Met) rs200797100 0.00005
NM_001130144.3(LTBP3):c.3135C>A (p.Asn1045Lys) rs764995512 0.00004
NM_001130144.3(LTBP3):c.3243G>A (p.Met1081Ile) rs200968742 0.00004
NM_001130144.3(LTBP3):c.3081C>T (p.Tyr1027=) rs745765954 0.00003
NM_001130144.3(LTBP3):c.3096G>A (p.Leu1032=) rs756994995 0.00003
NM_001130144.3(LTBP3):c.2983G>A (p.Asp995Asn) rs748867386 0.00002
NM_001130144.3(LTBP3):c.3068A>G (p.Gln1023Arg) rs556358354 0.00002
NM_001130144.3(LTBP3):c.3106+10G>A rs1183489279 0.00002
NM_001130144.3(LTBP3):c.3168C>T (p.Gly1056=) rs773332580 0.00002
NM_001130144.3(LTBP3):c.2975G>A (p.Arg992His) rs1407290844 0.00001
NM_001130144.3(LTBP3):c.2978-11T>G rs1267074429 0.00001
NM_001130144.3(LTBP3):c.3106+9C>T rs777722947 0.00001
NM_001130144.3(LTBP3):c.3107-17G>A rs756145309 0.00001
NM_001130144.3(LTBP3):c.3139C>T (p.Arg1047Trp) rs759123551 0.00001
NM_001130144.3(LTBP3):c.3165C>G (p.Arg1055=) rs1202004426 0.00001
NM_001130144.3(LTBP3):c.3208C>T (p.Pro1070Ser) rs1392991917 0.00001
NM_001130144.3(LTBP3):c.3244G>A (p.Asp1082Asn) rs1165193375 0.00001
NM_001130144.3(LTBP3):c.3277C>T (p.Arg1093Cys) rs1203529790 0.00001
NM_001130144.3(LTBP3):c.2939ACA[2] (p.Asn982del) rs778563938
NM_001130144.3(LTBP3):c.2946C>T (p.Asn982=)
NM_001130144.3(LTBP3):c.2947A>G (p.Ile983Val)
NM_001130144.3(LTBP3):c.2949C>T (p.Ile983=)
NM_001130144.3(LTBP3):c.2951T>C (p.Val984Ala)
NM_001130144.3(LTBP3):c.2958C>T (p.Tyr986=)
NM_001130144.3(LTBP3):c.2973_2974del (p.His991fs)
NM_001130144.3(LTBP3):c.2974C>A (p.Arg992Ser)
NM_001130144.3(LTBP3):c.2977+10C>G rs202235144
NM_001130144.3(LTBP3):c.2977+10C>T
NM_001130144.3(LTBP3):c.2977+18C>T rs909176963
NM_001130144.3(LTBP3):c.2977+20G>A
NM_001130144.3(LTBP3):c.2977+20G>C
NM_001130144.3(LTBP3):c.2977+20G>T
NM_001130144.3(LTBP3):c.2977+7G>A
NM_001130144.3(LTBP3):c.2977+9C>T
NM_001130144.3(LTBP3):c.2978-11T>C
NM_001130144.3(LTBP3):c.2978-16_2995dup
NM_001130144.3(LTBP3):c.2978-17T>G
NM_001130144.3(LTBP3):c.2978-18G>T
NM_001130144.3(LTBP3):c.2979C>A (p.Asp993Glu)
NM_001130144.3(LTBP3):c.2986G>A (p.Glu996Lys)
NM_001130144.3(LTBP3):c.2991C>T (p.Cys997=)
NM_001130144.3(LTBP3):c.2992A>T (p.Met998Leu) rs780796970
NM_001130144.3(LTBP3):c.3003G>A (p.Gly1001=)
NM_001130144.3(LTBP3):c.3006G>A (p.Ser1002=)
NM_001130144.3(LTBP3):c.3027G>A (p.Lys1009=)
NM_001130144.3(LTBP3):c.3030C>G (p.Cys1010Trp)
NM_001130144.3(LTBP3):c.3030C>T (p.Cys1010=)
NM_001130144.3(LTBP3):c.3031G>T (p.Val1011Leu) rs2135122386
NM_001130144.3(LTBP3):c.3033G>A (p.Val1011=)
NM_001130144.3(LTBP3):c.3039G>A (p.Thr1013=)
NM_001130144.3(LTBP3):c.3039G>T (p.Thr1013=)
NM_001130144.3(LTBP3):c.3041A>G (p.Gln1014Arg)
NM_001130144.3(LTBP3):c.3076TAC[1] (p.Tyr1027del)
NM_001130144.3(LTBP3):c.3084C>T (p.Asp1028=)
NM_001130144.3(LTBP3):c.3085G>A (p.Gly1029Arg)
NM_001130144.3(LTBP3):c.3087G>A (p.Gly1029=)
NM_001130144.3(LTBP3):c.3087del (p.Asn1030fs)
NM_001130144.3(LTBP3):c.3103G>C (p.Val1035Leu)
NM_001130144.3(LTBP3):c.3103G>T (p.Val1035Leu) rs200797100
NM_001130144.3(LTBP3):c.3106+12C>T
NM_001130144.3(LTBP3):c.3106+14C>A rs79476747
NM_001130144.3(LTBP3):c.3106+14C>G
NM_001130144.3(LTBP3):c.3106+16C>G rs2135122086
NM_001130144.3(LTBP3):c.3106+16dup
NM_001130144.3(LTBP3):c.3106+17G>A
NM_001130144.3(LTBP3):c.3106+4A>G
NM_001130144.3(LTBP3):c.3107-10C>T
NM_001130144.3(LTBP3):c.3107-13T>G rs2135121557
NM_001130144.3(LTBP3):c.3107-15T>C
NM_001130144.3(LTBP3):c.3107-23_3107-15dup rs770122549
NM_001130144.3(LTBP3):c.3107-24_3107-3dup
NM_001130144.3(LTBP3):c.3107-6C>T
NM_001130144.3(LTBP3):c.3129G>A (p.Glu1043=)
NM_001130144.3(LTBP3):c.3132C>T (p.Ser1044=)
NM_001130144.3(LTBP3):c.3141G>C (p.Arg1047=) rs1173783574
NM_001130144.3(LTBP3):c.3148G>A (p.Val1050Met)
NM_001130144.3(LTBP3):c.3154G>A (p.Glu1052Lys)
NM_001130144.3(LTBP3):c.3159C>T (p.Asn1053=)
NM_001130144.3(LTBP3):c.3159del (p.Asn1053fs)
NM_001130144.3(LTBP3):c.3162G>C (p.Thr1054=)
NM_001130144.3(LTBP3):c.3166G>A (p.Gly1056Ser)
NM_001130144.3(LTBP3):c.3169G>A (p.Gly1057Ser)
NM_001130144.3(LTBP3):c.3173A>G (p.Tyr1058Cys)
NM_001130144.3(LTBP3):c.3175C>A (p.Arg1059Ser) rs1371757289
NM_001130144.3(LTBP3):c.3175C>T (p.Arg1059Cys)
NM_001130144.3(LTBP3):c.3183C>T (p.Ala1061=)
NM_001130144.3(LTBP3):c.3189G>A (p.Thr1063=)
NM_001130144.3(LTBP3):c.3198C>T (p.Ala1066=)
NM_001130144.3(LTBP3):c.3205A>T (p.Ser1069Cys)
NM_001130144.3(LTBP3):c.3212C>T (p.Ala1071Val)
NM_001130144.3(LTBP3):c.3213_3214del (p.Gln1072fs) rs2135120937
NM_001130144.3(LTBP3):c.3228G>C (p.Leu1076=)
NM_001130144.3(LTBP3):c.3234G>A (p.Pro1078=)
NM_001130144.3(LTBP3):c.3240G>A (p.Glu1080=)
NM_001130144.3(LTBP3):c.3242T>G (p.Met1081Arg)
NM_001130144.3(LTBP3):c.3244+13C>T
NM_001130144.3(LTBP3):c.3244+14dup
NM_001130144.3(LTBP3):c.3244+15G>C
NM_001130144.3(LTBP3):c.3244+18G>A
NM_001130144.3(LTBP3):c.3244+9C>G
NM_001130144.3(LTBP3):c.3245-11G>A
NM_001130144.3(LTBP3):c.3245-14C>T
NM_001130144.3(LTBP3):c.3245-15C>T
NM_001130144.3(LTBP3):c.3245-16C>T
NM_001130144.3(LTBP3):c.3245-17_3245-14dup
NM_001130144.3(LTBP3):c.3245-19_3245-10dup
NM_001130144.3(LTBP3):c.3245-20C>A rs1490201410
NM_001130144.3(LTBP3):c.3245-20C>T
NM_001130144.3(LTBP3):c.3247G>T (p.Val1083Leu)
NM_001130144.3(LTBP3):c.3250G>C (p.Asp1084His)
NM_001130144.3(LTBP3):c.3252C>G (p.Asp1084Glu) rs765891223
NM_001130144.3(LTBP3):c.3252C>T (p.Asp1084=) rs765891223
NM_001130144.3(LTBP3):c.3262G>A (p.Asp1088Asn)
NM_001130144.3(LTBP3):c.3266C>T (p.Pro1089Leu)
NM_001130144.3(LTBP3):c.3269C>T (p.Ala1090Val)
NM_001130144.3(LTBP3):c.3275_3276delinsTT (p.Cys1092Phe)
NM_001130144.3(LTBP3):c.3278G>A (p.Arg1093His)

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