ClinVar Miner

List of variants studied for uveal disorder by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

Included ClinVar conditions (34):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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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

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