List of variants in gene TCTN1 reported as benign for Joubert syndrome

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_001082538.3(TCTN1):c.473-10T>A	rs12307716	0.02637
NM_001082538.3(TCTN1):c.894C>T (p.Leu298=)	rs16940927	0.01924
NM_001082538.3(TCTN1):c.1396G>T (p.Gly466Cys)	rs118096349	0.01517
NM_001082538.3(TCTN1):c.1234A>G (p.Ile412Val)	rs75714509	0.00723
NM_001082538.3(TCTN1):c.1387T>C (p.Trp463Arg)	rs114568905	0.00194
NM_001082538.3(TCTN1):c.341+11G>A	rs188296885	0.00079
NM_001082538.3(TCTN1):c.488C>A (p.Ser163Tyr)	rs117896500	0.00066
NM_001082538.3(TCTN1):c.327A>G (p.Ser109=)	rs140230455	0.00046
NM_001082538.3(TCTN1):c.1636-18T>G	rs574360617	0.00007
NM_001082538.3(TCTN1):c.880C>T (p.Leu294=)	rs371899538	0.00006
NM_001082538.3(TCTN1):c.1636-18TC[2]	rs201913681
NM_001082538.3(TCTN1):c.221-7dup	rs768471137
NM_001082538.3(TCTN1):c.473-10del	rs771463400
NM_001082538.3(TCTN1):c.473-10dup	rs771463400
NM_001082538.3(TCTN1):c.473-4dup

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