ClinVar Miner

List of variants in gene combination LOC121832793, LTBP3 reported as uncertain significance for Brachyolmia-amelogenesis imperfecta syndrome

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Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_001130144.3(LTBP3):c.3233C>T (p.Pro1078Leu) rs201735019 0.00047
NM_001130144.3(LTBP3):c.3238G>A (p.Glu1080Lys) rs907483608 0.00015
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.2983G>A (p.Asp995Asn) rs748867386 0.00002
NM_001130144.3(LTBP3):c.3068A>G (p.Gln1023Arg) rs556358354 0.00002
NM_001130144.3(LTBP3):c.2975G>A (p.Arg992His) rs1407290844 0.00001
NM_001130144.3(LTBP3):c.3139C>T (p.Arg1047Trp) rs759123551 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.2947A>G (p.Ile983Val)
NM_001130144.3(LTBP3):c.2951T>C (p.Val984Ala)
NM_001130144.3(LTBP3):c.2974C>A (p.Arg992Ser)
NM_001130144.3(LTBP3):c.2978-11T>C
NM_001130144.3(LTBP3):c.2978-16_2995dup
NM_001130144.3(LTBP3):c.2979C>A (p.Asp993Glu)
NM_001130144.3(LTBP3):c.2986G>A (p.Glu996Lys)
NM_001130144.3(LTBP3):c.2992A>T (p.Met998Leu) rs780796970
NM_001130144.3(LTBP3):c.3006G>A (p.Ser1002=)
NM_001130144.3(LTBP3):c.3030C>G (p.Cys1010Trp)
NM_001130144.3(LTBP3):c.3031G>T (p.Val1011Leu) rs2135122386
NM_001130144.3(LTBP3):c.3041A>G (p.Gln1014Arg)
NM_001130144.3(LTBP3):c.3076TAC[1] (p.Tyr1027del)
NM_001130144.3(LTBP3):c.3085G>A (p.Gly1029Arg)
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+4A>G
NM_001130144.3(LTBP3):c.3148G>A (p.Val1050Met)
NM_001130144.3(LTBP3):c.3154G>A (p.Glu1052Lys)
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.3205A>T (p.Ser1069Cys)
NM_001130144.3(LTBP3):c.3212C>T (p.Ala1071Val)
NM_001130144.3(LTBP3):c.3242T>G (p.Met1081Arg)
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.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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