List of variants in gene TCTN2 studied for Joubert syndrome and related disorders

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_024809.5(TCTN2):c.1506-2A>G	rs374349989	0.00002
NM_024809.5(TCTN2):c.703del (p.Leu235fs)	rs760830696	0.00002
NM_024809.5(TCTN2):c.1751T>A (p.Ile584Lys)	rs201010803	0.00001
NC_000012.11:g.(124163837_124171382)_(124181746_124184250)del
NC_000012.11:g.(124189236_124191272)_(124192951_?)del
NC_000012.11:g.(?_124155659)_(124184358_124189078)del
NM_024809.5(TCTN2):c.1550dup (p.His517fs)
NM_024809.5(TCTN2):c.1806dup (p.Thr603fs)

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