ClinVar Miner

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

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Total variants: 68
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HGVS dbSNP gnomAD frequency
NM_001130144.3(LTBP3):c.3210C>T (p.Pro1070=) rs377594002 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.3081C>T (p.Tyr1027=) rs745765954 0.00003
NM_001130144.3(LTBP3):c.3096G>A (p.Leu1032=) rs756994995 0.00003
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.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.3165C>G (p.Arg1055=) rs1202004426 0.00001
NM_001130144.3(LTBP3):c.2946C>T (p.Asn982=)
NM_001130144.3(LTBP3):c.2949C>T (p.Ile983=)
NM_001130144.3(LTBP3):c.2958C>T (p.Tyr986=)
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.2978-17T>G
NM_001130144.3(LTBP3):c.2978-18G>T
NM_001130144.3(LTBP3):c.2991C>T (p.Cys997=)
NM_001130144.3(LTBP3):c.3003G>A (p.Gly1001=)
NM_001130144.3(LTBP3):c.3027G>A (p.Lys1009=)
NM_001130144.3(LTBP3):c.3030C>T (p.Cys1010=)
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.3084C>T (p.Asp1028=)
NM_001130144.3(LTBP3):c.3087G>A (p.Gly1029=)
NM_001130144.3(LTBP3):c.3106+12C>T
NM_001130144.3(LTBP3):c.3106+14C>G
NM_001130144.3(LTBP3):c.3106+16C>G rs2135122086
NM_001130144.3(LTBP3):c.3106+17G>A
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.3159C>T (p.Asn1053=)
NM_001130144.3(LTBP3):c.3162G>C (p.Thr1054=)
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.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.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.3252C>T (p.Asp1084=) rs765891223
NM_001130144.3(LTBP3):c.3262G>A (p.Asp1088Asn)

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