ClinVar Miner

List of variants in gene TMEM138 reported as uncertain significance for Joubert syndrome 1

Included ClinVar conditions (11):
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_016464.4(TMEM138):c.-239C>T rs146156958 0.01419
NM_016464.4(TMEM138):c.-255C>T rs112115349 0.00061
NM_016464.4(TMEM138):c.-226C>G rs545702620
NM_016464.5(TMEM138):c.128+15G>A rs886048408

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