ClinVar Miner

List of variants in gene TUBGCP6 reported by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_020461.4(TUBGCP6):c.4315+20T>C rs6537642 0.96249
NM_020461.4(TUBGCP6):c.1700T>C (p.Leu567Ser) rs4838865 0.81410
NM_020461.4(TUBGCP6):c.4129A>G (p.Thr1377Ala) rs11703226 0.45122
NM_020461.4(TUBGCP6):c.24C>T (p.Phe8=) rs5771270 0.31375
NM_020461.4(TUBGCP6):c.4861G>C (p.Val1621Leu) rs4838864

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