ClinVar Miner

List of variants in gene INPP5E reported as likely pathogenic for Joubert syndrome

Included ClinVar conditions (64):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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NM_019892.6(INPP5E):c.1388C>T (p.Ala463Val) rs199956627
NM_019892.6(INPP5E):c.1565G>C (p.Gly522Ala) rs771866500
NM_019892.6(INPP5E):c.1922del (p.Cys641fs) rs1431917892

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