ClinVar Miner

List of variants studied for Joubert syndrome 3 by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001134831.2(AHI1):c.1780-14C>T rs2757645 0.81825
NM_001134831.2(AHI1):c.3426+13G>A rs6914831 0.59084
NM_001134831.2(AHI1):c.3257A>G (p.Glu1086Gly) rs148000791 0.00115

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