ClinVar Miner

List of variants in gene LTBP3 reported as benign for brachyolmia-amelogenesis imperfecta syndrome

Included ClinVar conditions (2):
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Gene type:
ClinVar version:
Total variants: 32
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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.804C>T (p.Pro268=) rs201590889 0.01247
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.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.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.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

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