ClinVar Miner

List of variants studied for Brachyolmia-amelogenesis imperfecta syndrome by Baylor Genetics

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001130144.3(LTBP3):c.2416T>A (p.Ser806Thr) rs974030785 0.00002
NM_001130144.3(LTBP3):c.2975G>A (p.Arg992His) rs1407290844 0.00001
NM_001130144.3(LTBP3):c.3527C>T (p.Pro1176Leu) rs889758877

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