List of variants studied for amelogenesis imperfecta, type 3A by OMIM

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		ClinVar version:

Total variants: 13

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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.1366C>T (p.Gln456Ter)	rs387907056
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.1872_1873del (p.Leu625fs)	rs796065022
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.973C>T (p.Arg325Ter)	rs137854435

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