ClinVar Miner

List of variants studied for Joubert syndrome 27 by OMIM

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_015681.6(B9D1):c.95A>G (p.Tyr32Cys) rs771170000 0.00002
NM_015681.6(B9D1):c.467G>A (p.Arg156Gln) rs886038205 0.00001
NM_015681.6(B9D1):c.517GTG[1] (p.Val174del) rs886038206

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