List of variants in gene TCTN3 reported as pathogenic for Joubert syndrome and related disorders

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_015631.6(TCTN3):c.940G>T (p.Gly314Ter)	rs793888508	0.00001
NM_015631.6(TCTN3):c.615del (p.Ser206fs)
NM_015631.6(TCTN3):c.622dup (p.Tyr208fs)

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