ClinVar Miner

List of variants in gene CEP164 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_014956.5(CEP164):c.3225C>T (p.Thr1075=) rs144421639 0.00210
NM_014956.5(CEP164):c.1220C>T (p.Ser407Phe) rs150314805 0.00084
NM_014956.5(CEP164):c.4106C>T (p.Pro1369Leu) rs148116542 0.00006
NM_014956.5(CEP164):c.2863G>T (p.Glu955Ter)

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