ClinVar Miner

List of variants in gene LOC130006030, LTBP3 studied for Brachyolmia-amelogenesis imperfecta syndrome

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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_001130144.3(LTBP3):c.2222C>G (p.Ala741Gly) rs148780991 0.00840
NM_001130144.3(LTBP3):c.2223C>G (p.Ala741=) rs760181021 0.00004
NM_001130144.3(LTBP3):c.2230+15C>T rs376917383 0.00002
NM_001130144.3(LTBP3):c.2204G>A (p.Arg735His) rs757613107 0.00001
NM_001130144.3(LTBP3):c.2141C>G (p.Pro714Arg) rs1252981675
NM_001130144.3(LTBP3):c.2142G>T (p.Pro714=)
NM_001130144.3(LTBP3):c.2155G>A (p.Glu719Lys)
NM_001130144.3(LTBP3):c.2155G>C (p.Glu719Gln) rs772542139
NM_001130144.3(LTBP3):c.2164C>A (p.Pro722Thr)
NM_001130144.3(LTBP3):c.2164C>T (p.Pro722Ser)
NM_001130144.3(LTBP3):c.2174T>C (p.Phe725Ser)
NM_001130144.3(LTBP3):c.2178G>A (p.Lys726=)
NM_001130144.3(LTBP3):c.2181C>T (p.Cys727=)
NM_001130144.3(LTBP3):c.2185G>A (p.Ala729Thr)
NM_001130144.3(LTBP3):c.2186C>T (p.Ala729Val)
NM_001130144.3(LTBP3):c.2188T>C (p.Cys730Arg) rs2135139983
NM_001130144.3(LTBP3):c.2206A>G (p.Ser736Gly)
NM_001130144.3(LTBP3):c.2208C>T (p.Ser736=)
NM_001130144.3(LTBP3):c.2209del (p.Gln737fs)
NM_001130144.3(LTBP3):c.2212G>A (p.Gly738Arg) rs377496105
NM_001130144.3(LTBP3):c.2212G>C (p.Gly738Arg) rs377496105
NM_001130144.3(LTBP3):c.2212G>T (p.Gly738Trp)
NM_001130144.3(LTBP3):c.2215_2216delinsT (p.Gly739fs)
NM_001130144.3(LTBP3):c.2216del (p.Gly739fs) rs752375653
NM_001130144.3(LTBP3):c.2218G>A (p.Gly740Arg)
NM_001130144.3(LTBP3):c.2222C>T (p.Ala741Val)
NM_001130144.3(LTBP3):c.2228G>T (p.Arg743Leu)
NM_001130144.3(LTBP3):c.2230+11G>T rs1856391896
NM_001130144.3(LTBP3):c.2230+18A>G
NM_001130144.3(LTBP3):c.2230+6G>A

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