ClinVar Miner

List of variants reported as benign for cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies by Genome Diagnostics Laboratory, Amsterdam University Medical Center

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001042545.2(LTBP4):c.379G>A (p.Val127Ile) rs2303729 0.50929
NM_001042545.2(LTBP4):c.3687C>T (p.Asp1229=) rs7367 0.50292
NM_001042545.2(LTBP4):c.2158A>G (p.Thr720Ala) rs1131620 0.47295
NM_001042545.2(LTBP4):c.2257A>G (p.Thr753Ala) rs1051303 0.47266
NM_001042545.2(LTBP4):c.3221C>T (p.Thr1074Met) rs10880 0.39072

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