ClinVar Miner

List of variants in gene CLDN16 reported as pathogenic for abdominal and pelvic region disorder

Included ClinVar conditions (916):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP
CLDN16, LEU151PRO
NM_006580.3(CLDN16):c.212T>G (p.Met71Arg) rs104893724
NM_006580.3(CLDN16):c.350G>A (p.Trp117Ter) rs104893732
NM_006580.3(CLDN16):c.416C>T (p.Ala139Val) rs765256758
NM_006580.3(CLDN16):c.434T>C (p.Leu145Pro) rs104893731
NM_006580.3(CLDN16):c.445C>T (p.Arg149Ter) rs104893720
NM_006580.3(CLDN16):c.452T>G (p.Leu151Trp) rs104893730
NM_006580.3(CLDN16):c.453G>T (p.Leu151Phe) rs104893729
NM_006580.3(CLDN16):c.500T>C (p.Leu167Pro) rs104893725
NM_006580.3(CLDN16):c.545_548dup (p.Lys183delinsAsnTer) rs1253995767
NM_006580.3(CLDN16):c.571G>A (p.Gly191Arg) rs104893722
NM_006580.3(CLDN16):c.593G>A (p.Gly198Asp) rs104893723
NM_006580.3(CLDN16):c.602G>A (p.Gly201Glu)
NM_006580.3(CLDN16):c.678del (p.Gly227fs) rs1553809654
NM_006580.3(CLDN16):c.695T>G (p.Phe232Cys) rs104893726
NM_006580.3(CLDN16):c.698G>A (p.Gly233Asp) rs104893727
NM_006580.3(CLDN16):c.704C>T (p.Ser235Phe) rs104893728
NM_006580.3(CLDN16):c.715G>A (p.Gly239Arg) rs104893721
NM_006580.3(CLDN16):c.823A>T (p.Lys275Ter) rs387906880
NM_006580.3(CLDN16):c.831T>G (p.Tyr277Ter) rs121908543

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