ClinVar Miner

List of variants in gene combination LOC130006027, LTBP3 reported as likely benign for bone disorder

Included ClinVar conditions (1436):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_001130144.3(LTBP3):c.3342C>T (p.Pro1114=) rs1002150082 0.00009
NM_001130144.3(LTBP3):c.3386-4G>A rs758834505 0.00009
NM_001130144.3(LTBP3):c.3372C>T (p.Pro1124=) rs891777322 0.00003
NM_001130144.3(LTBP3):c.3381G>A (p.Pro1127=) rs1253414531 0.00001
NM_001130144.3(LTBP3):c.3385+20T>A rs1856010525 0.00001
NM_001130144.3(LTBP3):c.3386-12T>C rs1328591471 0.00001
NM_001130144.3(LTBP3):c.3386-16C>T rs1000626384 0.00001
NM_001130144.3(LTBP3):c.3386-18G>A rs1371017072 0.00001
NM_001130144.3(LTBP3):c.3386-5C>T rs889863271 0.00001
NM_001130144.3(LTBP3):c.3386-6C>T rs1369304738 0.00001
NM_001130144.3(LTBP3):c.3330G>A (p.Pro1110=) rs1335908921
NM_001130144.3(LTBP3):c.3348C>T (p.Pro1116=) rs2496119034
NM_001130144.3(LTBP3):c.3357C>T (p.Arg1119=)
NM_001130144.3(LTBP3):c.3372C>A (p.Pro1124=) rs891777322
NM_001130144.3(LTBP3):c.3378C>T (p.Ser1126=) rs2135119684
NM_001130144.3(LTBP3):c.3385+11G>A rs2135119574
NM_001130144.3(LTBP3):c.3385+9G>A rs936055103
NM_001130144.3(LTBP3):c.3386-15A>G rs1477848687
NM_001130144.3(LTBP3):c.3386-4G>T rs758834505

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