ClinVar Miner

List of variants in gene combination ATP6V0A2, TCTN2 reported as benign for Meckel syndrome

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_024809.5(TCTN2):c.*468C>T rs7398298 0.36606
NM_024809.5(TCTN2):c.*155G>A rs12811354 0.31018
NM_024809.5(TCTN2):c.*412T>C rs112525270 0.05727
NM_024809.5(TCTN2):c.*87C>T rs113292231 0.05704
NM_024809.5(TCTN2):c.2041T>C (p.Leu681=) rs112158562 0.01028
NM_024809.5(TCTN2):c.*330_*331insACTC rs56918215

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