ClinVar Miner

List of variants reported as likely pathogenic for Brachyolmia-amelogenesis imperfecta syndrome by Invitae

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_001130144.3(LTBP3):c.1979-1G>C rs1275684003 0.00001
NM_001130144.3(LTBP3):c.1063+1G>A rs766900840
NM_001130144.3(LTBP3):c.1063+1G>T
NM_001130144.3(LTBP3):c.1064-2A>G
NM_001130144.3(LTBP3):c.1346-1G>A
NM_001130144.3(LTBP3):c.1531+1G>A
NM_001130144.3(LTBP3):c.1531+2del
NM_001130144.3(LTBP3):c.1720+1dup
NM_001130144.3(LTBP3):c.1721-1G>A rs2135143551
NM_001130144.3(LTBP3):c.2231-1G>C
NM_001130144.3(LTBP3):c.2893+1G>T rs2135125210
NM_001130144.3(LTBP3):c.3628+2T>C rs757974017
NM_001130144.3(LTBP3):c.646_661+26del
NM_001130144.3(LTBP3):c.662-2A>C
NM_001130144.3(LTBP3):c.971-1G>A

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