ClinVar Miner

List of variants in gene combination LOC130006030, 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: 10
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HGVS dbSNP gnomAD frequency
NM_001130144.3(LTBP3):c.2223C>G (p.Ala741=) rs760181021 0.00003
NM_001130144.3(LTBP3):c.2230+18A>G rs768782556 0.00003
NM_001130144.3(LTBP3):c.2230+15C>T rs376917383 0.00001
NM_001130144.3(LTBP3):c.2142G>T (p.Pro714=) rs373999629
NM_001130144.3(LTBP3):c.2178G>A (p.Lys726=) rs1350264433
NM_001130144.3(LTBP3):c.2184C>T (p.Ile728=)
NM_001130144.3(LTBP3):c.2208C>T (p.Ser736=) rs2496149727
NM_001130144.3(LTBP3):c.2212G>A (p.Gly738Arg) rs377496105
NM_001130144.3(LTBP3):c.2230+11G>T rs1856391896
NM_001130144.3(LTBP3):c.2230+19G>A

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