ClinVar Miner

List of variants in gene CLDN1, CLDN16 studied for biliary tract disorder

Included ClinVar conditions (55):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_021101.5(CLDN1):c.369T>C (p.Gly123=) rs9869263 0.83180
NM_021101.5(CLDN1):c.141C>A (p.Tyr47Ter) rs773766654
NM_021101.5(CLDN1):c.200_201del (p.Val66_Phe67insTer) rs864309516
NM_021101.5(CLDN1):c.358del (p.Val120fs) rs864309517

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