ClinVar Miner

List of variants in gene combination CYB561A3, TMEM138 reported as uncertain significance for Joubert syndrome 1

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_001161454.1(CYB561A3):c.-538_-536del rs369988724
NM_001161454.1(CYB561A3):c.-539G>A rs530037192
NM_001161454.1(CYB561A3):c.-578T>G rs192845534
NM_001161454.1(CYB561A3):c.-707T>G rs886048406
NM_001161454.1(CYB561A3):c.-753G>T rs548180077
NM_001161454.1(CYB561A3):c.-763C>T rs775592054

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