ClinVar Miner

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

Included ClinVar conditions (36):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 80
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HGVS dbSNP gnomAD frequency
NM_031889.3(ENAM):c.3320G>A (p.Ser1107Asn) rs71599965 0.00757
NM_031889.3(ENAM):c.1396G>A (p.Val466Ile) rs148712673 0.00340
NM_031889.3(ENAM):c.*1797G>A rs114352676 0.00186
NM_031889.3(ENAM):c.1181A>T (p.Tyr394Phe) rs142747446 0.00177
NM_031889.3(ENAM):c.3072T>C (p.Pro1024=) rs138729240 0.00131
NM_031889.3(ENAM):c.*1115C>G rs780401016 0.00057
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_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_031889.3(ENAM):c.3277C>T (p.Pro1093Ser) rs35951442 0.00026
NM_031889.3(ENAM):c.*1143G>A rs755589473 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_031889.3(ENAM):c.233T>C (p.Phe78Ser) rs202231676 0.00016
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_031889.3(ENAM):c.1893G>A (p.Gly631=) rs143023982 0.00012
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_031889.3(ENAM):c.*605T>C rs886059591 0.00010
NM_031889.3(ENAM):c.539T>C (p.Leu180Ser) rs367993395 0.00008
NM_031889.3(ENAM):c.1656C>G (p.Ile552Met) rs145361338 0.00007
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_031889.3(ENAM):c.*1528C>T rs141963911 0.00004
NM_031889.3(ENAM):c.888C>T (p.Asn296=) rs778224567 0.00004
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_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_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)

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