ClinVar Miner

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

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 10
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HGVS dbSNP gnomAD frequency
NM_001042545.2(LTBP4):c.123C>T (p.Cys41=) rs370611661 0.00056
NM_001042545.2(LTBP4):c.4034C>G (p.Pro1345Arg) rs199678003 0.00055
NM_001042545.2(LTBP4):c.1882C>T (p.Arg628Cys) rs200338042 0.00051
NM_001042545.2(LTBP4):c.3550C>T (p.Arg1184Trp) rs34051360 0.00047
NM_001042545.2(LTBP4):c.3338G>A (p.Arg1113His) rs199887429 0.00034
NM_001042545.2(LTBP4):c.3610G>A (p.Val1204Met) rs200036888 0.00021
NM_001042545.2(LTBP4):c.2239G>A (p.Gly747Ser) rs371314855 0.00019
NM_001042545.2(LTBP4):c.3877G>A (p.Val1293Met) rs376368630 0.00015
NM_001042545.2(LTBP4):c.1158G>A (p.Glu386=) rs1015435132 0.00002
NM_001042545.2(LTBP4):c.607T>C (p.Leu203=) rs754839219 0.00001

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