ClinVar Miner

List of variants in gene CEP164 reported as likely benign 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.1438C>T (p.Arg480Trp) rs112209873
NM_014956.5(CEP164):c.1452C>T (p.Pro484=) rs373736623
NM_014956.5(CEP164):c.1692G>A (p.Ala564=) rs143512199
NM_014956.5(CEP164):c.2427G>A (p.Lys809=) rs201002987
NM_014956.5(CEP164):c.2772C>G (p.Leu924=) rs117473319
NM_014956.5(CEP164):c.2844+8A>G rs142545580
NM_014956.5(CEP164):c.3717G>A (p.Pro1239=) rs149567170
NM_014956.5(CEP164):c.3806G>A (p.Arg1269Gln) rs150963269

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