List of variants reported as uncertain significance for amelogenesis imperfecta hypomaturation type 2A3

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 111

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HGVS	dbSNP	gnomAD frequency
NM_182758.4(WDR72):c.1569+7C>T	rs138465897	0.00285
NM_182758.4(WDR72):c.*3511A>G	rs143131142	0.00274
NM_182758.4(WDR72):c.99G>T (p.Val33=)	rs144767107	0.00222
NM_182758.4(WDR72):c.*1936A>G	rs148744855	0.00138
NM_182758.4(WDR72):c.*33C>T	rs145549474	0.00138
NM_182758.4(WDR72):c.*2521A>G	rs188128535	0.00101
NM_182758.4(WDR72):c.*1853A>G	rs572582132	0.00071
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.*2390C>A	rs536634979	0.00034
NM_182758.4(WDR72):c.93G>C (p.Thr31=)	rs148643501	0.00032
NM_182758.4(WDR72):c.*2648C>T	rs1051072411	0.00030
NM_182758.4(WDR72):c.*2620C>T	rs971592308	0.00028
NM_182758.4(WDR72):c.*2593G>T	rs28620845	0.00027
NM_182758.4(WDR72):c.*2215G>A	rs542885153	0.00026
NM_182758.4(WDR72):c.592-8T>C	rs199973374	0.00022
NM_182758.4(WDR72):c.*1470T>C	rs886051294	0.00021
NM_182758.4(WDR72):c.*2504T>G	rs776855982	0.00021
NM_182758.4(WDR72):c.2357T>G (p.Val786Gly)	rs150548151	0.00019
NM_182758.4(WDR72):c.363G>A (p.Met121Ile)	rs140373011	0.00019
NM_182758.4(WDR72):c.*1006A>G	rs758330355	0.00016
NM_182758.4(WDR72):c.*1527A>G	rs543611189	0.00016
NM_182758.4(WDR72):c.3162G>A (p.Pro1054=)	rs143842578	0.00015
NM_182758.4(WDR72):c.*356T>C	rs192271514	0.00013
NM_182758.4(WDR72):c.3253+3G>A	rs369105806	0.00013
NM_182758.4(WDR72):c.*1866A>G	rs143667387	0.00011
NM_182758.4(WDR72):c.*3459C>T	rs935827680	0.00011
NM_182758.4(WDR72):c.1549A>G (p.Met517Val)	rs200748257	0.00011
NM_182758.4(WDR72):c.*2642T>C	rs1001148159	0.00010
NM_182758.4(WDR72):c.*1764T>G	rs576208075	0.00009
NM_182758.4(WDR72):c.*2671G>C	rs184165819	0.00009
NM_182758.4(WDR72):c.*475T>G	rs964345350	0.00009
NM_182758.4(WDR72):c.737T>G (p.Leu246Arg)	rs370145481	0.00008
NM_182758.4(WDR72):c.*3852T>G	rs886051277	0.00007
NM_182758.4(WDR72):c.*1325T>C	rs758752529	0.00006
NM_182758.4(WDR72):c.*1896T>A	rs928204245	0.00006
NM_182758.4(WDR72):c.*898A>G	rs886051296	0.00006
NM_182758.4(WDR72):c.*956G>A	rs1469621117	0.00006
NM_182758.4(WDR72):c.*3650A>G	rs886051278	0.00005
NM_182758.4(WDR72):c.*1172A>G	rs1038976295	0.00004
NM_182758.4(WDR72):c.*2137T>G	rs1335888154	0.00004
NM_182758.4(WDR72):c.*3126T>C	rs372563214	0.00004
NM_182758.4(WDR72):c.*3691G>T	rs75272713	0.00004
NM_182758.4(WDR72):c.1111G>T (p.Val371Leu)	rs200333070	0.00004
NM_182758.4(WDR72):c.739C>T (p.Leu247=)	rs779467417	0.00004
NM_182758.4(WDR72):c.*3810T>A	rs551905947	0.00003
NM_182758.4(WDR72):c.*723C>T	rs552516569	0.00003
NM_182758.4(WDR72):c.*913G>C	rs188922992	0.00003
NM_182758.4(WDR72):c.127C>T (p.Leu43Phe)	rs1009489505	0.00003
NM_182758.4(WDR72):c.*2360C>T	rs886051290	0.00002
NM_182758.4(WDR72):c.*2650T>C	rs933412158	0.00002
NM_182758.4(WDR72):c.*2955A>G	rs879270279	0.00002
NM_182758.4(WDR72):c.1476C>A (p.Ile492=)	rs199536228	0.00002
NM_182758.4(WDR72):c.2985G>A (p.Ala995=)	rs745403939	0.00002
NM_182758.4(WDR72):c.*1014T>C	rs577502386	0.00001
NM_182758.4(WDR72):c.*1350A>T	rs372471720	0.00001
NM_182758.4(WDR72):c.*1620C>T	rs928121087	0.00001
NM_182758.4(WDR72):c.*179A>G	rs886051297	0.00001
NM_182758.4(WDR72):c.*2785G>A	rs531740269	0.00001
NM_182758.4(WDR72):c.*3016G>A	rs1365667800	0.00001
NM_182758.4(WDR72):c.*3128G>A	rs575286357	0.00001
NM_182758.4(WDR72):c.*497C>T	rs769215874	0.00001
NM_182758.4(WDR72):c.*640T>C	rs1281123577	0.00001
NM_182758.4(WDR72):c.1207G>A (p.Gly403Arg)	rs886051301	0.00001
NM_182758.4(WDR72):c.1529G>A (p.Gly510Asp)	rs748269156	0.00001
NM_182758.4(WDR72):c.153+14A>C	rs529865673	0.00001
NM_182758.4(WDR72):c.1574G>A (p.Arg525Lys)	rs777274290	0.00001
NM_182758.4(WDR72):c.1678G>A (p.Val560Met)	rs369193227	0.00001
NM_182758.4(WDR72):c.1963-10G>A	rs2013763075	0.00001
NM_182758.4(WDR72):c.2707T>G (p.Tyr903Asp)	rs750256834	0.00001
NM_182758.4(WDR72):c.408C>T (p.Val136=)	rs886051303	0.00001
NM_182758.4(WDR72):c.957A>T (p.Glu319Asp)	rs1029083427	0.00001
NM_182758.4(WDR72):c.*1175G>T	rs572496420
NM_182758.4(WDR72):c.*1183G>A	rs886051295
NM_182758.4(WDR72):c.*1528C>G	rs1891450952
NM_182758.4(WDR72):c.*1553G>C	rs1891449343
NM_182758.4(WDR72):c.*1577G>C	rs886051293
NM_182758.4(WDR72):c.*1583T>C	rs886051292
NM_182758.4(WDR72):c.*1859A>G	rs1891432762
NM_182758.4(WDR72):c.*2003G>C	rs1891422335
NM_182758.4(WDR72):c.*2050C>A	rs561453499
NM_182758.4(WDR72):c.*2209C>T	rs556155906
NM_182758.4(WDR72):c.*2378T>A	rs767102554
NM_182758.4(WDR72):c.*2470A>G	rs1891398511
NM_182758.4(WDR72):c.*2587G>C	rs1333938684
NM_182758.4(WDR72):c.*2766G>C	rs1891351217
NM_182758.4(WDR72):c.*2919T>G	rs886051281
NM_182758.4(WDR72):c.*3334A>G	rs1015802614
NM_182758.4(WDR72):c.*3470C>T	rs886051280
NM_182758.4(WDR72):c.*3514G>T	rs185236656
NM_182758.4(WDR72):c.*3594A>C	rs886051279
NM_182758.4(WDR72):c.*3627C>T	rs1595717383
NM_182758.4(WDR72):c.1283T>G (p.Ile428Ser)
NM_182758.4(WDR72):c.1288A>G (p.Ile430Val)	rs2017308454
NM_182758.4(WDR72):c.1394C>G (p.Thr465Ser)	rs886051300
NM_182758.4(WDR72):c.153+1G>C	rs368092923
NM_182758.4(WDR72):c.1604G>A (p.Gly535Asp)	rs1200122301
NM_182758.4(WDR72):c.1659C>T (p.Ala553=)	rs886051299
NM_182758.4(WDR72):c.1725A>T (p.Gly575=)	rs2017110073
NM_182758.4(WDR72):c.1777A>G (p.Arg593Gly)	rs1376457227
NM_182758.4(WDR72):c.1918G>C (p.Gly640Arg)	rs886051298
NM_182758.4(WDR72):c.243T>C (p.Val81=)	rs1371448411
NM_182758.4(WDR72):c.2569T>C (p.Tyr857His)	rs2013726558
NM_182758.4(WDR72):c.2694A>G (p.Ser898=)	rs114363728
NM_182758.4(WDR72):c.2872+4A>G	rs1595794133
NM_182758.4(WDR72):c.3128G>T (p.Arg1043Ile)	rs2012816001
NM_182758.4(WDR72):c.3245A>T (p.Glu1082Val)	rs1891896792
NM_182758.4(WDR72):c.409C>G (p.Leu137Val)	rs140484726
NM_182758.4(WDR72):c.53A>G (p.His18Arg)	rs200374434
NM_182758.4(WDR72):c.766C>G (p.Gln256Glu)	rs886051302
NM_182758.4(WDR72):c.957A>G (p.Glu319=)	rs1029083427

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