ClinVar Miner

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

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 164
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004771.4(MMP20):c.870A>T (p.Pro290=) rs17098831 0.00615
NM_004771.4(MMP20):c.92C>T (p.Pro31Leu) rs61730847 0.00465
NM_004771.4(MMP20):c.1313G>C (p.Gly438Ala) rs61753770 0.00414
NM_182758.4(WDR72):c.1569+7C>T rs138465897 0.00285
NM_182758.4(WDR72):c.*3511A>G rs143131142 0.00274
NM_004771.4(MMP20):c.954-2A>T rs140213840 0.00224
NM_004771.4(MMP20):c.274A>G (p.Met92Val) rs61730848 0.00223
NM_182758.4(WDR72):c.99G>T (p.Val33=) rs144767107 0.00222
NM_004771.4(MMP20):c.1136C>T (p.Pro379Leu) rs149589493 0.00172
NM_004771.4(MMP20):c.910G>A (p.Ala304Thr) rs148818720 0.00153
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_004771.4(MMP20):c.383A>C (p.Lys128Thr) rs61753771 0.00090
NM_004771.4(MMP20):c.723A>G (p.Ser241=) rs139717539 0.00081
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_004771.4(MMP20):c.254G>A (p.Gly85Glu) rs200482846 0.00031
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_004771.4(MMP20):c.453C>T (p.Ser151=) rs143965716 0.00026
NM_182758.4(WDR72):c.*2215G>A rs542885153 0.00026
NM_004771.4(MMP20):c.1422G>A (p.Val474=) rs373697258 0.00024
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_004771.4(MMP20):c.372C>T (p.Tyr124=) rs143362660 0.00016
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_004771.4(MMP20):c.1219C>T (p.Leu407Phe) rs150191942 0.00014
NM_004771.4(MMP20):c.757C>T (p.Pro253Ser) rs138853084 0.00013
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_004771.4(MMP20):c.103A>C (p.Arg35=) rs61751462 0.00009
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_004771.4(MMP20):c.855C>A (p.Ala285=) rs768882792 0.00007
NM_182758.4(WDR72):c.*3852T>G rs886051277 0.00007
NM_004771.4(MMP20):c.808T>C (p.Tyr270His) rs778890652 0.00006
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_004771.4(MMP20):c.1053C>T (p.Tyr351=) rs752244634 0.00004
NM_004771.4(MMP20):c.1108A>G (p.Thr370Ala) rs774909387 0.00004
NM_004771.4(MMP20):c.375-11C>T rs538004005 0.00004
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_004771.4(MMP20):c.183T>C (p.Val61=) rs778944042 0.00003
NM_004771.4(MMP20):c.454G>A (p.Ala152Thr) rs370166894 0.00003
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_004771.4(MMP20):c.66A>G (p.Ala22=) rs144554695 0.00002
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_004771.4(MMP20):c.*427A>T rs2292729 0.00001
NM_004771.4(MMP20):c.*481A>G rs1269175482 0.00001
NM_004771.4(MMP20):c.127-14C>A rs375856007 0.00001
NM_004771.4(MMP20):c.1296T>C (p.Thr432=) rs1303032939 0.00001
NM_004771.4(MMP20):c.1366T>C (p.Phe456Leu) rs768247344 0.00001
NM_004771.4(MMP20):c.1424T>C (p.Val475Ala) rs751829476 0.00001
NM_004771.4(MMP20):c.375-10G>A rs781268807 0.00001
NM_004771.4(MMP20):c.67G>A (p.Ala23Thr) rs762774990 0.00001
NM_004771.4(MMP20):c.711C>T (p.Ser237=) rs779994078 0.00001
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_001177676.2(GPR68):c.975dup (p.Glu326fs)
NM_004771.4(MMP20):c.*110A>T rs886047544
NM_004771.4(MMP20):c.*268T>C rs376611871
NM_004771.4(MMP20):c.*299G>A rs17098541
NM_004771.4(MMP20):c.*412G>A rs774781201
NM_004771.4(MMP20):c.*484T>C rs531522695
NM_004771.4(MMP20):c.1247+8T>C rs886047545
NM_004771.4(MMP20):c.1287A>G (p.Pro429=) rs200893460
NM_004771.4(MMP20):c.1418G>A (p.Ser473Asn) rs1269504792
NM_004771.4(MMP20):c.1430C>G (p.Ser477Cys) rs766621123
NM_004771.4(MMP20):c.289A>T (p.Lys97Ter) rs367552668
NM_004771.4(MMP20):c.530G>A (p.Gly177Glu)
NM_004771.4(MMP20):c.641G>C (p.Gly214Ala) rs1859574030
NM_004771.4(MMP20):c.644C>T (p.Thr215Met) rs377682409
NM_004771.4(MMP20):c.666C>T (p.Thr222=) rs763757159
NM_004771.4(MMP20):c.667G>A (p.Val223Ile) rs145109609
NM_004771.4(MMP20):c.690T>G (p.His230Gln)
NM_004771.4(MMP20):c.883C>G (p.Leu295Val) rs146876571
NM_004917.5(KLK4):c.443G>T (p.Cys148Phe)
NM_153646.4(SLC24A4):c.1716+5G>A
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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