ClinVar Miner

List of variants studied for Amelogenesis imperfecta hypomaturation type 2A3 by Fulgent Genetics, Fulgent Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 162
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_182758.4(WDR72):c.1839G>A (p.Val613=) rs78493456 0.01140
NM_182758.4(WDR72):c.857+9A>C rs139139066 0.00974
NM_182758.4(WDR72):c.2741T>C (p.Leu914Ser) rs146698292 0.00051
NM_182758.4(WDR72):c.2444G>A (p.Cys815Tyr) rs369011394 0.00037
NM_182758.4(WDR72):c.737T>G (p.Leu246Arg) rs370145481 0.00008
NM_182758.4(WDR72):c.739C>T (p.Leu247=) rs779467417 0.00004
NM_182758.4(WDR72):c.1467_1468del (p.Val491fs) rs606231462 0.00003
NM_182758.4(WDR72):c.1207G>A (p.Gly403Arg) rs886051301 0.00001
NM_182758.4(WDR72):c.2686C>T (p.Arg896Ter) rs557128345 0.00001
NM_182758.4(WDR72):c.1048A>G (p.Thr350Ala)
NM_182758.4(WDR72):c.1079C>A (p.Ser360Tyr)
NM_182758.4(WDR72):c.1081A>G (p.Lys361Glu)
NM_182758.4(WDR72):c.1096C>T (p.Pro366Ser)
NM_182758.4(WDR72):c.1118C>T (p.Ala373Val)
NM_182758.4(WDR72):c.1125G>T (p.Trp375Cys)
NM_182758.4(WDR72):c.1146T>G (p.Asp382Glu)
NM_182758.4(WDR72):c.114G>C (p.Glu38Asp)
NM_182758.4(WDR72):c.1177G>A (p.Asp393Asn)
NM_182758.4(WDR72):c.1205C>T (p.Ala402Val)
NM_182758.4(WDR72):c.1210A>G (p.Thr404Ala)
NM_182758.4(WDR72):c.1316C>A (p.Ala439Glu)
NM_182758.4(WDR72):c.1325T>C (p.Leu442Pro)
NM_182758.4(WDR72):c.1349-17G>A
NM_182758.4(WDR72):c.1412A>G (p.His471Arg)
NM_182758.4(WDR72):c.1412_1420dup (p.Leu473_Ser474insTyrGlyLeu)
NM_182758.4(WDR72):c.1424C>T (p.Ser475Leu)
NM_182758.4(WDR72):c.1468T>C (p.Cys490Arg)
NM_182758.4(WDR72):c.1484A>T (p.Asp495Val)
NM_182758.4(WDR72):c.1501A>G (p.Ile501Val)
NM_182758.4(WDR72):c.1515C>A (p.Phe505Leu)
NM_182758.4(WDR72):c.1569+5_1569+16del
NM_182758.4(WDR72):c.1570-3C>T
NM_182758.4(WDR72):c.1597G>T (p.Val533Leu)
NM_182758.4(WDR72):c.1606G>C (p.Asp536His)
NM_182758.4(WDR72):c.1615G>T (p.Val539Leu)
NM_182758.4(WDR72):c.1621C>G (p.Leu541Val)
NM_182758.4(WDR72):c.1635G>A (p.Glu545=)
NM_182758.4(WDR72):c.1645T>C (p.Cys549Arg)
NM_182758.4(WDR72):c.1648C>T (p.Leu550Phe)
NM_182758.4(WDR72):c.1649T>G (p.Leu550Arg)
NM_182758.4(WDR72):c.1669C>A (p.Leu557Ile)
NM_182758.4(WDR72):c.166G>T (p.Glu56Ter)
NM_182758.4(WDR72):c.1700C>A (p.Pro567Gln)
NM_182758.4(WDR72):c.1700C>T (p.Pro567Leu)
NM_182758.4(WDR72):c.1745A>G (p.Tyr582Cys)
NM_182758.4(WDR72):c.1754A>C (p.Glu585Ala)
NM_182758.4(WDR72):c.1777dup (p.Arg593fs)
NM_182758.4(WDR72):c.1825G>A (p.Asp609Asn)
NM_182758.4(WDR72):c.1862C>G (p.Ser621Ter)
NM_182758.4(WDR72):c.1866G>C (p.Glu622Asp)
NM_182758.4(WDR72):c.1877A>G (p.His626Arg)
NM_182758.4(WDR72):c.1947G>A (p.Val649=)
NM_182758.4(WDR72):c.1962+5G>A
NM_182758.4(WDR72):c.1963-5C>T
NM_182758.4(WDR72):c.2019dup (p.Trp674fs)
NM_182758.4(WDR72):c.2029G>A (p.Val677Ile)
NM_182758.4(WDR72):c.2041A>G (p.Ile681Val)
NM_182758.4(WDR72):c.2078T>A (p.Leu693Ter)
NM_182758.4(WDR72):c.2078T>C (p.Leu693Ser)
NM_182758.4(WDR72):c.2086A>G (p.Thr696Ala)
NM_182758.4(WDR72):c.2123A>G (p.Tyr708Cys)
NM_182758.4(WDR72):c.2127dup (p.Gly710fs)
NM_182758.4(WDR72):c.2194A>G (p.Thr732Ala)
NM_182758.4(WDR72):c.2228C>T (p.Ala743Val)
NM_182758.4(WDR72):c.223T>C (p.Ser75Pro)
NM_182758.4(WDR72):c.2255A>G (p.Gln752Arg)
NM_182758.4(WDR72):c.2258G>T (p.Gly753Val)
NM_182758.4(WDR72):c.2265T>A (p.Asn755Lys)
NM_182758.4(WDR72):c.2267C>A (p.Thr756Asn)
NM_182758.4(WDR72):c.2267C>T (p.Thr756Ile)
NM_182758.4(WDR72):c.2280A>G (p.Ser760=)
NM_182758.4(WDR72):c.236A>G (p.Tyr79Cys)
NM_182758.4(WDR72):c.2383_2385delinsCC (p.Ala795fs)
NM_182758.4(WDR72):c.243T>C (p.Val81=) rs1371448411
NM_182758.4(WDR72):c.2456T>C (p.Leu819Pro)
NM_182758.4(WDR72):c.245G>A (p.Ser82Asn)
NM_182758.4(WDR72):c.2469G>A (p.Lys823=)
NM_182758.4(WDR72):c.2473C>T (p.Gln825Ter)
NM_182758.4(WDR72):c.2480C>T (p.Pro827Leu)
NM_182758.4(WDR72):c.2485T>C (p.Ser829Pro)
NM_182758.4(WDR72):c.2521_2532dup (p.Pro844_Gly845insLeuMetLeuPro)
NM_182758.4(WDR72):c.2549A>G (p.Asn850Ser)
NM_182758.4(WDR72):c.2584T>A (p.Leu862Ile)
NM_182758.4(WDR72):c.2607C>A (p.Asp869Glu)
NM_182758.4(WDR72):c.2653C>G (p.Pro885Ala)
NM_182758.4(WDR72):c.2675G>T (p.Cys892Phe)
NM_182758.4(WDR72):c.268T>C (p.Cys90Arg)
NM_182758.4(WDR72):c.2701A>G (p.Ile901Val)
NM_182758.4(WDR72):c.2750T>C (p.Met917Thr)
NM_182758.4(WDR72):c.2794G>C (p.Glu932Gln)
NM_182758.4(WDR72):c.2795A>G (p.Glu932Gly)
NM_182758.4(WDR72):c.2807A>G (p.Asn936Ser)
NM_182758.4(WDR72):c.2810_2812del (p.Lys937del)
NM_182758.4(WDR72):c.2845T>G (p.Ser949Ala)
NM_182758.4(WDR72):c.2848A>G (p.Ser950Gly)
NM_182758.4(WDR72):c.2855A>G (p.Tyr952Cys)
NM_182758.4(WDR72):c.2867G>A (p.Arg956Gln)
NM_182758.4(WDR72):c.2867G>T (p.Arg956Leu)
NM_182758.4(WDR72):c.2871_2872+7del
NM_182758.4(WDR72):c.2875A>G (p.Lys959Glu)
NM_182758.4(WDR72):c.2900C>G (p.Ala967Gly)
NM_182758.4(WDR72):c.2951A>C (p.Gln984Pro)
NM_182758.4(WDR72):c.2952+20C>T
NM_182758.4(WDR72):c.2952+8A>G
NM_182758.4(WDR72):c.297C>A (p.Cys99Ter)
NM_182758.4(WDR72):c.2980T>A (p.Leu994Met)
NM_182758.4(WDR72):c.299T>G (p.Met100Arg)
NM_182758.4(WDR72):c.3125T>G (p.Val1042Gly)
NM_182758.4(WDR72):c.3149-30CT[13] rs57737580
NM_182758.4(WDR72):c.3155T>G (p.Val1052Gly)
NM_182758.4(WDR72):c.3159C>T (p.Ser1053=)
NM_182758.4(WDR72):c.3161C>T (p.Pro1054Leu)
NM_182758.4(WDR72):c.3179A>C (p.Asn1060Thr)
NM_182758.4(WDR72):c.3211G>C (p.Asp1071His)
NM_182758.4(WDR72):c.3214A>G (p.Met1072Val)
NM_182758.4(WDR72):c.3217C>T (p.Pro1073Ser)
NM_182758.4(WDR72):c.3245A>G (p.Glu1082Gly)
NM_182758.4(WDR72):c.3256G>A (p.Glu1086Lys)
NM_182758.4(WDR72):c.3280G>A (p.Ala1094Thr)
NM_182758.4(WDR72):c.357C>T (p.Phe119=)
NM_182758.4(WDR72):c.359G>A (p.Arg120Gln)
NM_182758.4(WDR72):c.37C>T (p.Gln13Ter)
NM_182758.4(WDR72):c.386G>A (p.Cys129Tyr)
NM_182758.4(WDR72):c.406G>A (p.Val136Ile)
NM_182758.4(WDR72):c.409C>G (p.Leu137Val) rs140484726
NM_182758.4(WDR72):c.409C>T (p.Leu137Phe)
NM_182758.4(WDR72):c.416T>C (p.Ile139Thr)
NM_182758.4(WDR72):c.428C>G (p.Thr143Ser)
NM_182758.4(WDR72):c.43G>A (p.Ala15Thr)
NM_182758.4(WDR72):c.474G>A (p.Trp158Ter)
NM_182758.4(WDR72):c.476_478del (p.Ile159del)
NM_182758.4(WDR72):c.497A>C (p.His166Pro)
NM_182758.4(WDR72):c.50C>A (p.Pro17His)
NM_182758.4(WDR72):c.517G>A (p.Asp173Asn)
NM_182758.4(WDR72):c.521C>G (p.Ser174Cys)
NM_182758.4(WDR72):c.552_554delinsGGTG (p.Lys185fs)
NM_182758.4(WDR72):c.556G>A (p.Val186Ile)
NM_182758.4(WDR72):c.569C>T (p.Ser190Phe)
NM_182758.4(WDR72):c.56G>A (p.Ser19Asn)
NM_182758.4(WDR72):c.587T>A (p.Ile196Asn)
NM_182758.4(WDR72):c.591+1G>C
NM_182758.4(WDR72):c.644G>T (p.Cys215Phe)
NM_182758.4(WDR72):c.655C>T (p.Arg219Ter)
NM_182758.4(WDR72):c.681_683dup (p.Leu229_Val230insLeu)
NM_182758.4(WDR72):c.711_711+1delinsTT
NM_182758.4(WDR72):c.733dup (p.Ser245fs)
NM_182758.4(WDR72):c.841T>C (p.Tyr281His)
NM_182758.4(WDR72):c.858-2A>G
NM_182758.4(WDR72):c.868_880del (p.Lys290fs)
NM_182758.4(WDR72):c.872G>A (p.Ser291Asn)
NM_182758.4(WDR72):c.872G>C (p.Ser291Thr)
NM_182758.4(WDR72):c.88C>T (p.Arg30Ter) rs770804941
NM_182758.4(WDR72):c.89G>T (p.Arg30Leu)
NM_182758.4(WDR72):c.905A>C (p.Glu302Ala)
NM_182758.4(WDR72):c.941T>C (p.Val314Ala)
NM_182758.4(WDR72):c.954G>A (p.Lys318=)
NM_182758.4(WDR72):c.95T>C (p.Ile32Thr)
NM_182758.4(WDR72):c.964C>A (p.Arg322Ser)
NM_182758.4(WDR72):c.964C>T (p.Arg322Cys)
NM_182758.4(WDR72):c.965G>A (p.Arg322His)
NM_182758.4(WDR72):c.986T>C (p.Met329Thr)
NM_182758.4(WDR72):c.997A>T (p.Lys333Ter)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.