ClinVar Miner

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

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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NM_014956.5(CEP164):c.2784G>T (p.Glu928Asp)
NM_014956.5(CEP164):c.3001C>G (p.Leu1001Val) rs199637319
NM_014956.5(CEP164):c.3107C>T (p.Ala1036Val) rs1264586687
NM_014956.5(CEP164):c.4060G>A (p.Asp1354Asn)
NM_014956.5(CEP164):c.548T>A (p.Met183Lys)
NM_014956.5(CEP164):c.76G>A (p.Glu26Lys) rs1565416876
NM_014956.5(CEP164):c.815A>G (p.Asp272Gly)

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