ClinVar Miner

List of variants in gene CPLANE1, LOC129993816 studied for Joubert syndrome 17

Included ClinVar conditions (10):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001384732.1(CPLANE1):c.-151C>T	rs769827950	0.00088
NM_001384732.1(CPLANE1):c.-77C>T	rs910545554
NM_023073.3(CPLANE1):c.-234G>A	rs80164363

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