ClinVar Miner

List of variants in gene LTBP4 reported as likely benign for eyelid disorder

Included ClinVar conditions (80):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001042545.2(LTBP4):c.1238G>A (p.Gly413Asp) rs114749335 0.00315
NM_001042545.2(LTBP4):c.1491G>T (p.Arg497=) rs117273116 0.00290
NM_001042545.2(LTBP4):c.1882C>T (p.Arg628Cys) rs200338042 0.00051
NM_001042545.2(LTBP4):c.2557+10C>T rs547405457 0.00003
NM_001042545.2(LTBP4):c.517G>T (p.Val173Leu) rs755035387 0.00001
NM_001042545.2(LTBP4):c.4628C>T (p.Pro1543Leu)

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