ClinVar Miner

List of variants reported as uncertain significance for tooth hard tissue disease

Included ClinVar conditions (36):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 528
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HGVS dbSNP gnomAD frequency
NM_031889.3(ENAM):c.3320G>A (p.Ser1107Asn) rs71599965 0.00757
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_031889.3(ENAM):c.1396G>A (p.Val466Ile) rs148712673 0.00340
NM_182758.4(WDR72):c.1569+7C>T rs138465897 0.00285
NM_182758.4(WDR72):c.*3511A>G rs143131142 0.00274
NM_005562.3(LAMC2):c.493C>T (p.Arg165Cys) rs142335339 0.00261
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_031889.3(ENAM):c.*1797G>A rs114352676 0.00186
NM_198488.5(FAM83H):c.1669G>T (p.Gly557Cys) rs312262803 0.00183
NM_005220.3(DLX3):c.710A>G (p.Tyr237Cys) rs142563930 0.00179
NM_031889.3(ENAM):c.1181A>T (p.Tyr394Phe) rs142747446 0.00177
NM_004771.4(MMP20):c.1136C>T (p.Pro379Leu) rs149589493 0.00172
NM_000094.4(COL7A1):c.3605G>A (p.Arg1202His) rs149011081 0.00166
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_031889.3(ENAM):c.3072T>C (p.Pro1024=) rs138729240 0.00131
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_031889.3(ENAM):c.*1115C>G rs780401016 0.00057
NM_182758.4(WDR72):c.2741T>C (p.Leu914Ser) rs146698292 0.00051
NM_005220.3(DLX3):c.-135C>T rs532523216 0.00043
NM_005220.3(DLX3):c.*1272T>C rs192378506 0.00042
NM_031889.3(ENAM):c.2205T>C (p.Ser735=) rs144225109 0.00042
NM_031889.3(ENAM):c.*884A>G rs193199459 0.00039
NM_031889.3(ENAM):c.*1374A>G rs576147094 0.00037
NM_182758.4(WDR72):c.2444G>A (p.Cys815Tyr) rs369011394 0.00037
NM_005220.3(DLX3):c.*437G>A rs111413176 0.00034
NM_182758.4(WDR72):c.*2390C>A rs536634979 0.00034
NM_017565.4(FAM20A):c.467G>A (p.Arg156Gln) rs146809464 0.00033
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_031889.3(ENAM):c.*1079G>A rs539454338 0.00029
NM_031889.3(ENAM):c.2994G>T (p.Leu998=) rs148122591 0.00029
NM_031889.3(ENAM):c.263A>G (p.Gln88Arg) rs565258194 0.00028
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_005220.3(DLX3):c.*726T>C rs190429946 0.00026
NM_031889.3(ENAM):c.3277C>T (p.Pro1093Ser) rs35951442 0.00026
NM_182758.4(WDR72):c.*2215G>A rs542885153 0.00026
NM_005220.3(DLX3):c.90T>C (p.Pro30=) rs145424773 0.00025
NM_004771.4(MMP20):c.1422G>A (p.Val474=) rs373697258 0.00024
NM_004771.4(MMP20):c.757C>T (p.Pro253Ser) rs138853084 0.00023
NM_017565.4(FAM20A):c.440C>T (p.Thr147Ile) rs145784842 0.00023
NM_182758.4(WDR72):c.592-8T>C rs199973374 0.00022
NM_005220.3(DLX3):c.*988G>A rs555823151 0.00021
NM_005220.3(DLX3):c.-190C>T rs886053136 0.00021
NM_182758.4(WDR72):c.*1470T>C rs886051294 0.00021
NM_182758.4(WDR72):c.*2504T>G rs776855982 0.00021
NM_005220.3(DLX3):c.-121C>T rs756924776 0.00020
NM_017565.4(FAM20A):c.527G>A (p.Arg176Gln) rs140917285 0.00019
NM_031889.3(ENAM):c.*1143G>A rs755589473 0.00019
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_031889.3(ENAM):c.2315C>A (p.Ala772Asp) rs144070672 0.00018
NM_031889.3(ENAM):c.*1241C>A rs556213549 0.00017
NM_004771.4(MMP20):c.372C>T (p.Tyr124=) rs143362660 0.00016
NM_017565.4(FAM20A):c.1175G>A (p.Arg392Gln) rs376802484 0.00016
NM_031889.3(ENAM):c.233T>C (p.Phe78Ser) rs202231676 0.00016
NM_182758.4(WDR72):c.*1006A>G rs758330355 0.00016
NM_182758.4(WDR72):c.*1527A>G rs543611189 0.00016
NM_000228.3(LAMB3):c.2963G>A (p.Arg988Gln) rs142912342 0.00015
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_017565.4(FAM20A):c.5C>T (p.Pro2Leu) rs528874230 0.00014
NM_031889.3(ENAM):c.2172G>A (p.Pro724=) rs149573021 0.00014
NM_031889.3(ENAM):c.637C>T (p.Pro213Ser) rs369065889 0.00013
NM_182758.4(WDR72):c.*356T>C rs192271514 0.00013
NM_182758.4(WDR72):c.3253+3G>A rs369105806 0.00013
NM_031889.3(ENAM):c.1893G>A (p.Gly631=) rs143023982 0.00012
NM_016519.6(AMBN):c.209C>G (p.Ser70Ter) rs146148316 0.00011
NM_031889.3(ENAM):c.*518A>G rs1025272194 0.00011
NM_031889.3(ENAM):c.-60-4T>A rs182835987 0.00011
NM_031889.3(ENAM):c.2397G>T (p.Arg799Ser) rs775159311 0.00011
NM_031889.3(ENAM):c.2736C>T (p.Asp912=) rs143333113 0.00011
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_031889.3(ENAM):c.*605T>C rs886059591 0.00010
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_005220.3(DLX3):c.-225G>A rs546133632 0.00008
NM_031889.3(ENAM):c.539T>C (p.Leu180Ser) rs367993395 0.00008
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_005220.3(DLX3):c.*1164A>G rs1024414003 0.00007
NM_005220.3(DLX3):c.*548C>T rs997326806 0.00007
NM_031889.3(ENAM):c.1656C>G (p.Ile552Met) rs145361338 0.00007
NM_182758.4(WDR72):c.*3852T>G rs886051277 0.00007
NM_001166412.2(SMOC2):c.400G>A (p.Val134Ile) rs373406001 0.00006
NM_004771.4(MMP20):c.808T>C (p.Tyr270His) rs778890652 0.00006
NM_005220.3(DLX3):c.798G>A (p.Pro266=) rs569475772 0.00006
NM_031889.3(ENAM):c.*156G>A rs886059587 0.00006
NM_031889.3(ENAM):c.1103G>A (p.Arg368His) rs780933451 0.00006
NM_031889.3(ENAM):c.332A>C (p.Lys111Thr) rs532584416 0.00006
NM_031889.3(ENAM):c.3400G>T (p.Val1134Leu) rs200396980 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_000228.3(LAMB3):c.2632C>T (p.Arg878Cys) rs199946321 0.00004
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_005220.3(DLX3):c.*1252C>G rs3803879 0.00004
NM_005220.3(DLX3):c.140A>G (p.Gln47Arg) rs773002632 0.00004
NM_005220.3(DLX3):c.698C>T (p.Pro233Leu) rs146899668 0.00004
NM_014208.3(DSPP):c.981G>T (p.Glu327Asp) rs778282028 0.00004
NM_017565.4(FAM20A):c.13C>A (p.Arg5Ser) rs766476867 0.00004
NM_031889.3(ENAM):c.*1528C>T rs141963911 0.00004
NM_031889.3(ENAM):c.888C>T (p.Asn296=) rs778224567 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_005220.3(DLX3):c.*75G>A rs1051660674 0.00003
NM_017565.4(FAM20A):c.50C>T (p.Ala17Val) rs1335379646 0.00003
NM_031889.3(ENAM):c.1289A>G (p.Asn430Ser) rs769265756 0.00003
NM_031889.3(ENAM):c.588G>C (p.Gly196=) rs762381494 0.00003
NM_031889.3(ENAM):c.632G>A (p.Arg211His) rs200521750 0.00003
NM_031889.3(ENAM):c.871C>T (p.Pro291Ser) rs752076298 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_017565.4(FAM20A):c.1293C>T (p.Asn431=) rs377240666 0.00002
NM_017565.4(FAM20A):c.929C>T (p.Ala310Val) rs1371933127 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_000228.3(LAMB3):c.2397A>G (p.Ile799Met) rs114544692 0.00001
NM_000396.4(CTSK):c.905G>A (p.Trp302Ter) rs1571122183 0.00001
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_005220.3(DLX3):c.*124C>A rs886053133 0.00001
NM_005220.3(DLX3):c.*429C>G rs1358552045 0.00001
NM_005220.3(DLX3):c.*812G>A rs1906056965 0.00001
NM_005220.3(DLX3):c.*821C>A rs886053131 0.00001
NM_005220.3(DLX3):c.-62C>A rs1489241968 0.00001
NM_005220.3(DLX3):c.326-15G>T rs778835890 0.00001
NM_031889.3(ENAM):c.*1565A>C rs920214074 0.00001
NM_031889.3(ENAM):c.*222A>G rs1161162098 0.00001
NM_031889.3(ENAM):c.*69T>A rs886059586 0.00001
NM_031889.3(ENAM):c.-45A>G rs748261893 0.00001
NM_031889.3(ENAM):c.1080G>A (p.Arg360=) rs765775414 0.00001
NM_031889.3(ENAM):c.1265C>G (p.Pro422Arg) rs777996409 0.00001
NM_031889.3(ENAM):c.1827G>A (p.Arg609=) rs375265900 0.00001
NM_031889.3(ENAM):c.2573C>T (p.Ser858Leu) rs774203624 0.00001
NM_031889.3(ENAM):c.2686T>A (p.Tyr896Asn) rs754676479 0.00001
NM_031889.3(ENAM):c.2688T>A (p.Tyr896Ter) rs778381344 0.00001
NM_031889.3(ENAM):c.2816G>A (p.Arg939Lys) rs752376600 0.00001
NM_031889.3(ENAM):c.2979T>C (p.Asp993=) rs747440840 0.00001
NM_031889.3(ENAM):c.2998C>G (p.Gln1000Glu) rs886059585 0.00001
NM_031889.3(ENAM):c.3007G>A (p.Glu1003Lys) rs775162070 0.00001
NM_031889.3(ENAM):c.899A>G (p.Gln300Arg) rs886059583 0.00001
NM_031889.3(ENAM):c.950G>A (p.Arg317His) rs373870116 0.00001
NM_033068.3(ACP4):c.713C>T (p.Ser238Leu) rs763573828 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
46;Y;inv(X)(q27q28)
NM_000094.4(COL7A1):c.2440+3A>C
NM_000094.4(COL7A1):c.3785T>C (p.Met1262Thr)
NM_000228.3(LAMB3):c.-72C>A rs543183724
NM_000228.3(LAMB3):c.1423G>A (p.Gly475Ser)
NM_000228.3(LAMB3):c.2962C>T (p.Arg988Trp) rs2229467
NM_000228.3(LAMB3):c.3490C>T (p.Arg1164Cys)
NM_000228.3(LAMB3):c.655_656delinsTC (p.Val219Ser) rs1666739864
NM_000228.3(LAMB3):c.944-14C>G
NM_000494.4(COL17A1):c.3397C>T (p.Arg1133Cys)
NM_000494.4(COL17A1):c.3605C>T (p.Ser1202Leu)
NM_000888.5(ITGB6):c.2020G>A (p.Gly674Arg)
NM_000888.5(ITGB6):c.871G>A (p.Gly291Arg)
NM_001166412.2(SMOC2):c.842G>A (p.Cys281Tyr) rs2115203587
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_005220.3(DLX3):c.*1025G>T rs1224971346
NM_005220.3(DLX3):c.*1205A>C rs886053129
NM_005220.3(DLX3):c.*1408G>A rs772459781
NM_005220.3(DLX3):c.*1505G>A rs768920190
NM_005220.3(DLX3):c.*714C>T rs886053132
NM_005220.3(DLX3):c.*83G>A rs886053134
NM_005220.3(DLX3):c.-131C>A rs543871008
NM_005220.3(DLX3):c.-131C>G rs543871008
NM_005220.3(DLX3):c.-132C>A rs150591955
NM_005220.3(DLX3):c.746A>C (p.Asn249Thr) rs1906092898
NM_005220.3(DLX3):c.846C>A (p.Asn282Lys) rs886053135
NM_005220.3(DLX3):c.92C>G (p.Thr31Ser)
NM_014208.3(DSPP):c.3444_3447delinsCGAT (p.Glu1149Asp)
NM_014208.3(DSPP):c.3535_3537delinsGAC (p.Asn1179Asp) rs1727933220
NM_016519.6(AMBN):c.15+1G>A
NM_016519.6(AMBN):c.571-1G>C
NM_016519.6(AMBN):c.577G>T (p.Gly193Ter)
NM_017565.4(FAM20A):c.1012G>C (p.Gly338Arg)
NM_017565.4(FAM20A):c.1022C>T (p.Ser341Phe)
NM_017565.4(FAM20A):c.1033C>T (p.Pro345Ser)
NM_017565.4(FAM20A):c.103C>A (p.Leu35Met)
NM_017565.4(FAM20A):c.104T>G (p.Leu35Arg)
NM_017565.4(FAM20A):c.1082G>A (p.Arg361His)
NM_017565.4(FAM20A):c.1091C>T (p.Thr364Ile)
NM_017565.4(FAM20A):c.1094T>C (p.Leu365Pro) rs956049429
NM_017565.4(FAM20A):c.109C>G (p.Pro37Ala)
NM_017565.4(FAM20A):c.1110-12_1110-10del
NM_017565.4(FAM20A):c.1168A>G (p.Ser390Gly)
NM_017565.4(FAM20A):c.1169G>A (p.Ser390Asn) rs771912912
NM_017565.4(FAM20A):c.1183A>G (p.Asn395Asp)
NM_017565.4(FAM20A):c.1210T>C (p.Phe404Leu)
NM_017565.4(FAM20A):c.1219+14C>T
NM_017565.4(FAM20A):c.1286T>C (p.Leu429Pro)
NM_017565.4(FAM20A):c.1288G>C (p.Asp430His)
NM_017565.4(FAM20A):c.1294G>A (p.Ala432Thr) rs200599944
NM_017565.4(FAM20A):c.1294G>T (p.Ala432Ser) rs200599944
NM_017565.4(FAM20A):c.1301+3G>A
NM_017565.4(FAM20A):c.1301+5G>A
NM_017565.4(FAM20A):c.1301G>C (p.Gly434Ala)
NM_017565.4(FAM20A):c.133C>T (p.Pro45Ser)
NM_017565.4(FAM20A):c.1340C>T (p.Ser447Leu)
NM_017565.4(FAM20A):c.1361+16G>A
NM_017565.4(FAM20A):c.1442T>C (p.Leu481Pro)
NM_017565.4(FAM20A):c.145C>T (p.Arg49Cys)
NM_017565.4(FAM20A):c.1478C>T (p.Pro493Leu)
NM_017565.4(FAM20A):c.1481A>G (p.His494Arg)
NM_017565.4(FAM20A):c.1486C>T (p.Leu496Phe)
NM_017565.4(FAM20A):c.14G>A (p.Arg5His)
NM_017565.4(FAM20A):c.1538T>C (p.Ile513Thr)
NM_017565.4(FAM20A):c.154T>G (p.Ser52Ala)
NM_017565.4(FAM20A):c.1567G>C (p.Val523Leu)
NM_017565.4(FAM20A):c.1570G>A (p.Asp524Asn)
NM_017565.4(FAM20A):c.1609G>A (p.Ala537Thr)
NM_017565.4(FAM20A):c.197C>G (p.Thr66Arg)
NM_017565.4(FAM20A):c.19G>A (p.Asp7Asn)
NM_017565.4(FAM20A):c.19G>C (p.Asp7His)
NM_017565.4(FAM20A):c.217C>A (p.Arg73=)
NM_017565.4(FAM20A):c.225G>C (p.Glu75Asp)
NM_017565.4(FAM20A):c.242C>G (p.Ala81Gly)
NM_017565.4(FAM20A):c.255C>G (p.His85Gln)
NM_017565.4(FAM20A):c.316G>A (p.Glu106Lys)
NM_017565.4(FAM20A):c.326T>C (p.Leu109Pro)
NM_017565.4(FAM20A):c.332_352dup (p.Leu117_Ala118insGlyAlaGluAspSerLeuLeu)
NM_017565.4(FAM20A):c.339G>C (p.Glu113Asp)
NM_017565.4(FAM20A):c.345G>T (p.Ser115=)
NM_017565.4(FAM20A):c.34CTG[5] (p.Leu15_Gly16insLeu)
NM_017565.4(FAM20A):c.384_385delinsCCCGCTGGAAC (p.Arg128_Lys129delinsSerProLeuGluGln)
NM_017565.4(FAM20A):c.392C>T (p.Ala131Val)
NM_017565.4(FAM20A):c.395G>C (p.Arg132Pro)
NM_017565.4(FAM20A):c.411C>A (p.His137Gln)
NM_017565.4(FAM20A):c.451C>T (p.Pro151Ser)
NM_017565.4(FAM20A):c.455C>A (p.Pro152Gln)
NM_017565.4(FAM20A):c.455C>G (p.Pro152Arg)
NM_017565.4(FAM20A):c.496C>A (p.Leu166Met)
NM_017565.4(FAM20A):c.526C>T (p.Arg176Trp)
NM_017565.4(FAM20A):c.53T>A (p.Leu18Gln)
NM_017565.4(FAM20A):c.573T>A (p.Phe191Leu)
NM_017565.4(FAM20A):c.625T>A (p.Cys209Ser)
NM_017565.4(FAM20A):c.654T>G (p.Ser218Arg)
NM_017565.4(FAM20A):c.665T>C (p.Leu222Pro)
NM_017565.4(FAM20A):c.686C>T (p.Ser229Leu)
NM_017565.4(FAM20A):c.694G>A (p.Gly232Arg)
NM_017565.4(FAM20A):c.742C>T (p.Pro248Ser)
NM_017565.4(FAM20A):c.757T>C (p.Tyr253His) rs2143526028
NM_017565.4(FAM20A):c.770T>G (p.Phe257Cys)
NM_017565.4(FAM20A):c.793G>A (p.Ala265Thr)
NM_017565.4(FAM20A):c.794C>T (p.Ala265Val)
NM_017565.4(FAM20A):c.853A>G (p.Ile285Val)
NM_017565.4(FAM20A):c.889A>G (p.Lys297Glu)
NM_017565.4(FAM20A):c.937G>A (p.Val313Met)
NM_017565.4(FAM20A):c.95A>G (p.Gln32Arg)
NM_017565.4(FAM20A):c.964A>G (p.Met322Val)
NM_017565.4(FAM20A):c.976_978del (p.Glu326del)
NM_017565.4(FAM20A):c.996_997delinsAG (p.Asn332_Pro333delinsLysAla)
NM_031889.3(ENAM):c.*1078C>T rs116148244
NM_031889.3(ENAM):c.*1211T>G rs886059593
NM_031889.3(ENAM):c.*1717G>T rs1738767754
NM_031889.3(ENAM):c.*261T>A rs145784024
NM_031889.3(ENAM):c.*422G>T rs886059589
NM_031889.3(ENAM):c.*459T>C rs995976769
NM_031889.3(ENAM):c.*653T>A rs147787859
NM_031889.3(ENAM):c.*680T>C rs1738738819
NM_031889.3(ENAM):c.*985C>T rs182854472
NM_031889.3(ENAM):c.*986G>A rs968135437
NM_031889.3(ENAM):c.-111A>T rs886059582
NM_031889.3(ENAM):c.-112A>G rs886059581
NM_031889.3(ENAM):c.-218A>G rs886059580
NM_031889.3(ENAM):c.-25G>A rs778175689
NM_031889.3(ENAM):c.101T>C (p.Leu34Pro)
NM_031889.3(ENAM):c.1072G>A (p.Gly358Ser) rs147295492
NM_031889.3(ENAM):c.1945G>A (p.Val649Ile) rs199541879
NM_031889.3(ENAM):c.2153A>C (p.Glu718Ala) rs1738668322
NM_031889.3(ENAM):c.2369C>A (p.Ala790Glu) rs1738678483
NM_031889.3(ENAM):c.2749A>C (p.Lys917Gln) rs886059584
NM_031889.3(ENAM):c.3148T>C (p.Ser1050Pro) rs1738705709
NM_031889.3(ENAM):c.3310C>A (p.Gln1104Lys) rs114751362
NM_031889.3(ENAM):c.481C>G (p.Pro161Ala) rs1738438667
NM_031889.3(ENAM):c.549A>G (p.Pro183=) rs1738493259
NM_031889.3(ENAM):c.584G>T (p.Gly195Val) rs143129444
NM_031889.3(ENAM):c.76A>T (p.Ile26Phe) rs141034810
NM_031889.3(ENAM):c.79C>A (p.Leu27Ile)
NM_033068.3(ACP4):c.1199C>A (p.Ala400Asp)
NM_033068.3(ACP4):c.262C>A (p.Arg88Ser) rs1190557090
NM_033068.3(ACP4):c.350A>G (p.Gln117Arg) rs2123287930
NM_033068.3(ACP4):c.419C>T (p.Pro140Leu) rs1371134137
NM_033068.3(ACP4):c.626T>C (p.Leu209Pro)
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.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.1283T>G (p.Ile428Ser)
NM_182758.4(WDR72):c.1288A>G (p.Ile430Val) rs2017308454
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.1394C>G (p.Thr465Ser) rs886051300
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.153+1G>C rs368092923
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.1604G>A (p.Gly535Asp) rs1200122301
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.1659C>T (p.Ala553=) rs886051299
NM_182758.4(WDR72):c.1669C>A (p.Leu557Ile)
NM_182758.4(WDR72):c.1700C>A (p.Pro567Gln)
NM_182758.4(WDR72):c.1700C>T (p.Pro567Leu)
NM_182758.4(WDR72):c.1725A>T (p.Gly575=) rs2017110073
NM_182758.4(WDR72):c.1745A>G (p.Tyr582Cys)
NM_182758.4(WDR72):c.1754A>C (p.Glu585Ala)
NM_182758.4(WDR72):c.1777A>G (p.Arg593Gly) rs1376457227
NM_182758.4(WDR72):c.1825G>A (p.Asp609Asn)
NM_182758.4(WDR72):c.1866G>C (p.Glu622Asp)
NM_182758.4(WDR72):c.1877A>G (p.His626Arg)
NM_182758.4(WDR72):c.1918G>C (p.Gly640Arg) rs886051298
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.2029G>A (p.Val677Ile)
NM_182758.4(WDR72):c.2041A>G (p.Ile681Val)
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.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.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.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.2569T>C (p.Tyr857His) rs2013726558
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.2694A>G (p.Ser898=) rs114363728
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.2872+4A>G rs1595794133
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.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.3128G>T (p.Arg1043Ile) rs2012816001
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.3245A>T (p.Glu1082Val) rs1891896792
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.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.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.53A>G (p.His18Arg) rs200374434
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.644G>T (p.Cys215Phe)
NM_182758.4(WDR72):c.681_683dup (p.Leu229_Val230insLeu)
NM_182758.4(WDR72):c.766C>G (p.Gln256Glu) rs886051302
NM_182758.4(WDR72):c.841T>C (p.Tyr281His)
NM_182758.4(WDR72):c.872G>A (p.Ser291Asn)
NM_182758.4(WDR72):c.872G>C (p.Ser291Thr)
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.957A>G (p.Glu319=) rs1029083427
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.986T>C (p.Met329Thr)
NM_198488.5(FAM83H):c.1498C>G (p.Leu500Val)

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.