ClinVar Miner

List of variants in gene B9D1 reported as likely pathogenic for Joubert syndrome 27

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001321218.2(B9D1):c.473-1G>C rs73980009 0.01140
NM_015681.6(B9D1):c.151T>C (p.Ser51Pro) rs546359789 0.00011
NM_015681.6(B9D1):c.341G>A (p.Arg114Gln) rs778260923 0.00001
NM_015681.6(B9D1):c.529G>C (p.Asp177His) rs1309922077

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