List of variants in gene TCTN1 reported as likely pathogenic for cerebellar disorder

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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: 5

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HGVS	dbSNP	gnomAD frequency
NM_001082538.3(TCTN1):c.712+1G>A	rs200863258	0.00004
NC_000012.11:g.(111052208_111057640)_(111057762_111064166)del
NM_001082538.3(TCTN1):c.1284del (p.Thr429fs)	rs1566003392
NM_001082538.3(TCTN1):c.1494+2T>C
NM_001173976.2(TCTN1):c.1011-2_1012del

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