List of variants in gene TCTN1 reported as likely pathogenic for Joubert syndrome; Meckel-Gruber syndrome

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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: 13

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HGVS	dbSNP	gnomAD frequency
NM_001082538.3(TCTN1):c.341+1G>A	rs200241085	0.00006
NM_001082538.3(TCTN1):c.712+1G>A	rs200863258	0.00004
NM_001082538.3(TCTN1):c.1495-2A>G	rs1475200635	0.00002
NM_001082538.3(TCTN1):c.1104+2T>C	rs1303964272	0.00001
NM_001082538.3(TCTN1):c.1494+2T>C	rs2067211703	0.00001
NM_001082538.3(TCTN1):c.262G>A (p.Asp88Asn)	rs765199264	0.00001
NM_001082538.3(TCTN1):c.713-2A>G	rs2066444872	0.00001
NC_000012.11:g.(?_111079754)_(111082915_?)del
NM_001082538.3(TCTN1):c.1104+1G>C	rs756402483
NM_001082538.3(TCTN1):c.1332-1G>C	rs2548929536
NM_001082538.3(TCTN1):c.1494+1G>A	rs1165243207
NM_001082538.3(TCTN1):c.472+1G>C	rs769457761
NM_001082538.3(TCTN1):c.638T>A (p.Leu213Gln)	rs2066300090

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