ClinVar Miner

List of variants reported as pathogenic for amelogenesis imperfecta, type 3A

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_198488.5(FAM83H):c.1192C>T (p.Gln398Ter) rs137854436
NM_198488.5(FAM83H):c.1243G>T (p.Glu415Ter) rs137854437
NM_198488.5(FAM83H):c.1309_1311delinsTAA (p.His437Ter) rs2129674608
NM_198488.5(FAM83H):c.1309_1311delinsTAG (p.His437Ter)
NM_198488.5(FAM83H):c.1330C>T (p.Gln444Ter) rs1818377152
NM_198488.5(FAM83H):c.1363C>T (p.Gln455Ter) rs2129674125
NM_198488.5(FAM83H):c.1366C>T (p.Gln456Ter) rs387907056
NM_198488.5(FAM83H):c.1375C>T (p.Gln459Ter)
NM_198488.5(FAM83H):c.1379G>A (p.Trp460Ter) rs137854444
NM_198488.5(FAM83H):c.1380G>A (p.Trp460Ter) rs137854439
NM_198488.5(FAM83H):c.1408C>T (p.Gln470Ter) rs137854441
NM_198488.5(FAM83H):c.1828G>T (p.Glu610Ter) rs1554622736
NM_198488.5(FAM83H):c.1872_1873del (p.Leu625fs) rs796065022
NM_198488.5(FAM83H):c.1915A>T (p.Lys639Ter) rs2129668758
NM_198488.5(FAM83H):c.2029C>T (p.Gln677Ter) rs137854440
NM_198488.5(FAM83H):c.2080G>T (p.Glu694Ter) rs137854443
NM_198488.5(FAM83H):c.860C>A (p.Ser287Ter) rs137854442
NM_198488.5(FAM83H):c.891T>A (p.Tyr297Ter) rs137854438
NM_198488.5(FAM83H):c.923_924del (p.Leu308fs) rs796065023
NM_198488.5(FAM83H):c.926_927del (p.Val309fs) rs1554623490
NM_198488.5(FAM83H):c.930_939dup (p.Val314fs)
NM_198488.5(FAM83H):c.973C>T (p.Arg325Ter) rs137854435

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