ClinVar Miner

List of variants reported as benign for Brachyolmia-amelogenesis imperfecta syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 40
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001130144.3(LTBP3):c.2107+8G>A rs74202491 0.05179
NM_001130144.3(LTBP3):c.1313C>T (p.Ala438Val) rs11545200 0.05087
NM_001130144.3(LTBP3):c.3108C>T (p.Asp1036=) rs79320058 0.01540
NM_001130144.3(LTBP3):c.804C>T (p.Pro268=) rs201590889 0.01247
NM_001130144.3(LTBP3):c.3012T>C (p.Ile1004=) rs151139557 0.01204
NM_001130144.3(LTBP3):c.2222C>G (p.Ala741Gly) rs148780991 0.00840
NM_001130144.3(LTBP3):c.3573C>T (p.Ser1191=) rs145046881 0.00786
NM_001130144.3(LTBP3):c.1979-11C>G rs182705867 0.00693
NM_001130144.3(LTBP3):c.2107+13C>T rs201699516 0.00263
NM_001130144.3(LTBP3):c.2889C>T (p.Ser963=) rs75311576 0.00230
NM_001130144.3(LTBP3):c.3548-9T>C rs149115544 0.00193
NM_001130144.3(LTBP3):c.1077C>T (p.Cys359=) rs117063418 0.00093
NM_001130144.3(LTBP3):c.1186+18G>T rs369938562 0.00093
NM_001130144.3(LTBP3):c.708C>A (p.Pro236=) rs373043487 0.00080
NM_001130144.3(LTBP3):c.1064-10C>T rs202221935 0.00079
NM_001130144.3(LTBP3):c.2353+14C>T rs368828977 0.00068
NM_001130144.3(LTBP3):c.3435C>T (p.Asp1145=) rs534239532 0.00037
NM_001130144.3(LTBP3):c.2458G>A (p.Asp820Asn) rs140268486 0.00029
NM_001130144.3(LTBP3):c.331+10G>A rs199896239 0.00027
NM_001130144.3(LTBP3):c.2726-13G>A rs59666890 0.00024
NM_001130144.3(LTBP3):c.1137T>C (p.Cys379=) rs201941540 0.00012
NM_001130144.3(LTBP3):c.3519A>G (p.Gln1173=) rs538479771 0.00007
NM_001130144.3(LTBP3):c.3629-20T>C rs542733677 0.00007
NM_001130144.3(LTBP3):c.885C>T (p.Pro295=) rs575590294 0.00005
NM_001130144.3(LTBP3):c.1556G>A (p.Ser519Asn) rs570380350 0.00004
NM_001130144.3(LTBP3):c.1332A>G (p.Pro444=) rs530601538 0.00001
NM_001130144.3(LTBP3):c.864+18C>T rs374205429 0.00001
NM_001130144.3(LTBP3):c.1187-15del rs754347924
NM_001130144.3(LTBP3):c.1531+15dup rs539958151
NM_001130144.3(LTBP3):c.1532-3del rs2135152686
NM_001130144.3(LTBP3):c.1846+7G>T rs371976916
NM_001130144.3(LTBP3):c.2977+10C>G rs202235144
NM_001130144.3(LTBP3):c.3106+14C>A rs79476747
NM_001130144.3(LTBP3):c.3106+16dup
NM_001130144.3(LTBP3):c.331+14del
NM_001130144.3(LTBP3):c.3761-15C>T rs376049741
NM_001130144.3(LTBP3):c.662-16C>T
NM_001130144.3(LTBP3):c.76CTG[11] (p.Leu35dup) rs71036212
NM_001130144.3(LTBP3):c.76CTG[12] (p.Leu34_Leu35dup) rs71036212
NM_001130144.3(LTBP3):c.76CTG[13] (p.Leu33_Leu35dup) rs71036212

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.