ClinVar Miner

List of variants studied for Joubert syndrome 6 by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_153704.6(TMEM67):c.622A>T (p.Arg208Ter) rs137853108 0.00026
NM_153704.6(TMEM67):c.2374A>G (p.Arg792Gly) rs1815059174
NM_153704.6(TMEM67):c.2557-3T>G rs1808586167

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