ClinVar Miner

List of variants in gene combination FAM20A, PRKAR1A reported as uncertain significance for Amelogenesis imperfecta type 1G

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Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_017565.4(FAM20A):c.1175G>A (p.Arg392Gln) rs376802484 0.00016
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.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.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.1210T>C (p.Phe404Leu)
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.1301+5G>A
NM_017565.4(FAM20A):c.1301G>C (p.Gly434Ala)
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.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.1538T>C (p.Ile513Thr)
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.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.964A>G (p.Met322Val)
NM_017565.4(FAM20A):c.976_978del (p.Glu326del)
NM_017565.4(FAM20A):c.996_997delinsAG (p.Asn332_Pro333delinsLysAla)

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