ClinVar Miner

List of variants in gene CEP164 reported as pathogenic for Senior-Loken syndrome

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NM_014956.5(CEP164):c.1573C>T (p.Gln525Ter) rs387907311
NM_014956.5(CEP164):c.1726C>T (p.Arg576Ter) rs145646425
NM_014956.5(CEP164):c.2689C>T (p.Arg897Ter)
NM_014956.5(CEP164):c.277C>T (p.Arg93Trp) rs387907310
NM_014956.5(CEP164):c.32A>C (p.Gln11Pro) rs387907309
NM_014956.5(CEP164):c.381dup (p.Lys128fs) rs747914869
NM_014956.5(CEP164):c.4228C>T (p.Gln1410Ter) rs147398904
NM_014956.5(CEP164):c.4381T>C (p.Ter1461Arg) rs1565649749

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