ClinVar Miner

List of variants studied for retinal dystrophy and obesity by Genome-Nilou Lab

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_177972.3(TUB):c.566-32C>A rs7931842 0.99757
NM_177972.3(TUB):c.565+16A>G rs11041739 0.99683
NM_177972.3(TUB):c.566-47C>G rs10160258 0.96273
NM_177972.3(TUB):c.397+26C>G rs7396690 0.79455
NM_177972.3(TUB):c.360T>C (p.Gly120=) rs4758289 0.32302
NM_177972.3(TUB):c.1388-22_1388-19del rs66906803

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