ClinVar Miner

List of variants studied for Joubert syndrome by Centogene AG - the Rare Disease Company

Included ClinVar conditions (87):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) rs534542684 0.00347
NC_000002.12:g.110069919_110205214del
NM_001329943.3(KIAA0586):c.64C>T (p.Arg22Cys) rs202124602

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