ClinVar Miner

List of variants reported as uncertain significance for Amelogenesis imperfecta type 1G by Fulgent Genetics, Fulgent Genetics

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Total variants: 82
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HGVS dbSNP gnomAD frequency
NM_017565.4(FAM20A):c.467G>A (p.Arg156Gln) rs146809464 0.00033
NM_017565.4(FAM20A):c.440C>T (p.Thr147Ile) rs145784842 0.00023
NM_017565.4(FAM20A):c.527G>A (p.Arg176Gln) rs140917285 0.00019
NM_017565.4(FAM20A):c.1175G>A (p.Arg392Gln) rs376802484 0.00016
NM_017565.4(FAM20A):c.5C>T (p.Pro2Leu) rs528874230 0.00014
NM_017565.4(FAM20A):c.13C>A (p.Arg5Ser) rs766476867 0.00004
NM_017565.4(FAM20A):c.50C>T (p.Ala17Val) rs1335379646 0.00003
NM_017565.4(FAM20A):c.1293C>T (p.Asn431=) rs377240666 0.00002
NM_017565.4(FAM20A):c.929C>T (p.Ala310Val) rs1371933127 0.00002
NM_017565.4(FAM20A):c.1012G>C (p.Gly338Arg)
NM_017565.4(FAM20A):c.1022C>T (p.Ser341Phe)
NM_017565.4(FAM20A):c.1033C>T (p.Pro345Ser)
NM_017565.4(FAM20A):c.103C>A (p.Leu35Met)
NM_017565.4(FAM20A):c.104T>G (p.Leu35Arg)
NM_017565.4(FAM20A):c.1082G>A (p.Arg361His)
NM_017565.4(FAM20A):c.1091C>T (p.Thr364Ile)
NM_017565.4(FAM20A):c.1094T>C (p.Leu365Pro) rs956049429
NM_017565.4(FAM20A):c.109C>G (p.Pro37Ala)
NM_017565.4(FAM20A):c.1110-12_1110-10del
NM_017565.4(FAM20A):c.1168A>G (p.Ser390Gly)
NM_017565.4(FAM20A):c.1169G>A (p.Ser390Asn) rs771912912
NM_017565.4(FAM20A):c.1183A>G (p.Asn395Asp)
NM_017565.4(FAM20A):c.1219+14C>T
NM_017565.4(FAM20A):c.1286T>C (p.Leu429Pro)
NM_017565.4(FAM20A):c.1288G>C (p.Asp430His)
NM_017565.4(FAM20A):c.1294G>A (p.Ala432Thr) rs200599944
NM_017565.4(FAM20A):c.1294G>T (p.Ala432Ser) rs200599944
NM_017565.4(FAM20A):c.1301+3G>A
NM_017565.4(FAM20A):c.1301G>C (p.Gly434Ala)
NM_017565.4(FAM20A):c.133C>T (p.Pro45Ser)
NM_017565.4(FAM20A):c.1340C>T (p.Ser447Leu)
NM_017565.4(FAM20A):c.1361+16G>A
NM_017565.4(FAM20A):c.1442T>C (p.Leu481Pro)
NM_017565.4(FAM20A):c.145C>T (p.Arg49Cys)
NM_017565.4(FAM20A):c.1478C>T (p.Pro493Leu)
NM_017565.4(FAM20A):c.1481A>G (p.His494Arg)
NM_017565.4(FAM20A):c.1486C>T (p.Leu496Phe)
NM_017565.4(FAM20A):c.14G>A (p.Arg5His)
NM_017565.4(FAM20A):c.1538T>C (p.Ile513Thr)
NM_017565.4(FAM20A):c.154T>G (p.Ser52Ala)
NM_017565.4(FAM20A):c.1567G>C (p.Val523Leu)
NM_017565.4(FAM20A):c.1570G>A (p.Asp524Asn)
NM_017565.4(FAM20A):c.1609G>A (p.Ala537Thr)
NM_017565.4(FAM20A):c.197C>G (p.Thr66Arg)
NM_017565.4(FAM20A):c.19G>A (p.Asp7Asn)
NM_017565.4(FAM20A):c.19G>C (p.Asp7His)
NM_017565.4(FAM20A):c.217C>A (p.Arg73=)
NM_017565.4(FAM20A):c.225G>C (p.Glu75Asp)
NM_017565.4(FAM20A):c.242C>G (p.Ala81Gly)
NM_017565.4(FAM20A):c.255C>G (p.His85Gln)
NM_017565.4(FAM20A):c.316G>A (p.Glu106Lys)
NM_017565.4(FAM20A):c.326T>C (p.Leu109Pro)
NM_017565.4(FAM20A):c.332_352dup (p.Leu117_Ala118insGlyAlaGluAspSerLeuLeu)
NM_017565.4(FAM20A):c.339G>C (p.Glu113Asp)
NM_017565.4(FAM20A):c.345G>T (p.Ser115=)
NM_017565.4(FAM20A):c.34CTG[5] (p.Leu15_Gly16insLeu)
NM_017565.4(FAM20A):c.384_385delinsCCCGCTGGAAC (p.Arg128_Lys129delinsSerProLeuGluGln)
NM_017565.4(FAM20A):c.392C>T (p.Ala131Val)
NM_017565.4(FAM20A):c.395G>C (p.Arg132Pro)
NM_017565.4(FAM20A):c.411C>A (p.His137Gln)
NM_017565.4(FAM20A):c.451C>T (p.Pro151Ser)
NM_017565.4(FAM20A):c.455C>A (p.Pro152Gln)
NM_017565.4(FAM20A):c.455C>G (p.Pro152Arg)
NM_017565.4(FAM20A):c.496C>A (p.Leu166Met)
NM_017565.4(FAM20A):c.526C>T (p.Arg176Trp)
NM_017565.4(FAM20A):c.573T>A (p.Phe191Leu)
NM_017565.4(FAM20A):c.625T>A (p.Cys209Ser)
NM_017565.4(FAM20A):c.654T>G (p.Ser218Arg)
NM_017565.4(FAM20A):c.665T>C (p.Leu222Pro)
NM_017565.4(FAM20A):c.686C>T (p.Ser229Leu)
NM_017565.4(FAM20A):c.694G>A (p.Gly232Arg)
NM_017565.4(FAM20A):c.742C>T (p.Pro248Ser)
NM_017565.4(FAM20A):c.757T>C (p.Tyr253His) rs2143526028
NM_017565.4(FAM20A):c.770T>G (p.Phe257Cys)
NM_017565.4(FAM20A):c.793G>A (p.Ala265Thr)
NM_017565.4(FAM20A):c.794C>T (p.Ala265Val)
NM_017565.4(FAM20A):c.853A>G (p.Ile285Val)
NM_017565.4(FAM20A):c.889A>G (p.Lys297Glu)
NM_017565.4(FAM20A):c.937G>A (p.Val313Met)
NM_017565.4(FAM20A):c.95A>G (p.Gln32Arg)
NM_017565.4(FAM20A):c.964A>G (p.Met322Val)
NM_017565.4(FAM20A):c.996_997delinsAG (p.Asn332_Pro333delinsLysAla)

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