ClinVar Miner

Variants in gene LTBP4 with conflicting interpretations "uncertain significance" and "benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 6
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HGVS dbSNP gnomAD frequency
NM_001042545.2(LTBP4):c.2909C>G (p.Pro970Arg) rs200667255 0.00135
NM_001042545.2(LTBP4):c.2681-10C>G rs200914063 0.00084
NM_001042545.2(LTBP4):c.3338G>A (p.Arg1113His) rs199887429 0.00034
NM_001042545.2(LTBP4):c.4411G>A (p.Gly1471Arg) rs375100061 0.00014
NM_001042545.2(LTBP4):c.3050G>A (p.Arg1017Gln) rs376010452 0.00013
NM_001042545.2(LTBP4):c.1355_1366del (p.Asp452_Pro455del) rs529188563

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