ClinVar Miner

List of variants in gene B9D1 reported as pathogenic for Joubert syndrome

Included ClinVar conditions (58):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_015681.5(B9D1):c.285C>A (p.Phe95Leu) rs373478202
NM_015681.5(B9D1):c.341+2T>C rs143149764
NM_015681.5(B9D1):c.466C>T (p.Arg156Trp) rs369488112
NM_015681.5(B9D1):c.467G>A (p.Arg156Gln) rs886038205
NM_015681.5(B9D1):c.517_519GTG[1] (p.Val174del) rs886038206
NM_015681.5(B9D1):c.95A>G (p.Tyr32Cys) rs771170000

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