ClinVar Miner

List of variants in gene combination LOC130006029, LTBP3 reported as uncertain significance for Brachyolmia-amelogenesis imperfecta syndrome

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_001130144.3(LTBP3):c.2316G>T (p.Gln772His) rs201219596 0.00008
NM_001130144.3(LTBP3):c.2255G>A (p.Ser752Asn) rs369066686 0.00006
NM_001130144.3(LTBP3):c.2232C>A (p.Asp744Glu) rs1301932570 0.00001
NM_001130144.3(LTBP3):c.2272T>G (p.Trp758Gly) rs763648441 0.00001
NM_001130144.3(LTBP3):c.2231-5C>G
NM_001130144.3(LTBP3):c.2232C>G (p.Asp744Glu)
NM_001130144.3(LTBP3):c.2246C>G (p.Ala749Gly)
NM_001130144.3(LTBP3):c.2252G>A (p.Gly751Asp)
NM_001130144.3(LTBP3):c.2266C>T (p.Pro756Ser)
NM_001130144.3(LTBP3):c.2280G>C (p.Glu760Asp)
NM_001130144.3(LTBP3):c.2287C>T (p.Pro763Ser)
NM_001130144.3(LTBP3):c.2306C>T (p.Thr769Ile)
NM_001130144.3(LTBP3):c.2324CGCCCG[3] (p.Pro778_Asp779insAlaPro)
NM_001130144.3(LTBP3):c.2326C>T (p.Pro776Ser)
NM_001130144.3(LTBP3):c.2332C>A (p.Pro778Thr) rs2135138292
NM_001130144.3(LTBP3):c.2335G>A (p.Asp779Asn)
NM_001130144.3(LTBP3):c.2338G>A (p.Gly780Ser)
NM_001130144.3(LTBP3):c.2339G>C (p.Gly780Ala)
NM_001130144.3(LTBP3):c.2339G>T (p.Gly780Val)
NM_001130144.3(LTBP3):c.2342G>A (p.Arg781His)
NM_001130144.3(LTBP3):c.2345G>A (p.Ser782Asn)

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