ClinVar Miner

List of variants in gene ATP6V0A2, TCTN2 studied for Joubert syndrome

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 9
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HGVS dbSNP
NM_012463.3(ATP6V0A2):c.-14C>T rs1139320
NM_012463.3(ATP6V0A2):c.-222C>G rs71458814
NM_024809.4(TCTN2):c.*155G>A rs12811354
NM_024809.4(TCTN2):c.*330_*331insACTC rs56918215
NM_024809.4(TCTN2):c.*412T>C rs112525270
NM_024809.4(TCTN2):c.*45G>A rs142969969
NM_024809.4(TCTN2):c.*468C>T rs7398298
NM_024809.4(TCTN2):c.*87C>T rs113292231
NM_024809.4(TCTN2):c.2041T>C (p.Leu681=) rs112158562

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