List of variants in gene TTLL5 reported as likely pathogenic by Invitae

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: 18

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HGVS	dbSNP	gnomAD frequency
NM_015072.5(TTLL5):c.1513A>G (p.Met505Val)	rs781316021	0.00009
NM_015072.5(TTLL5):c.2602+1G>A	rs867401129	0.00003
NM_015072.5(TTLL5):c.2388-2A>G	rs752669828	0.00002
NM_015072.5(TTLL5):c.1488-1G>T	rs990308427	0.00001
NM_015072.5(TTLL5):c.3172-2A>G	rs756311924	0.00001
NC_000014.8:g.(?_76147868)_(76349265_?)dup
NC_000014.9:g.(?_75757799)_(75766368_?)del
NM_015072.5(TTLL5):c.1186+1G>A
NM_015072.5(TTLL5):c.1187-2A>G
NM_015072.5(TTLL5):c.1396-1G>C
NM_015072.5(TTLL5):c.1551-2A>G	rs1359166382
NM_015072.5(TTLL5):c.2131_2136+20del
NM_015072.5(TTLL5):c.2388-1G>C	rs1206062558
NM_015072.5(TTLL5):c.2515+1G>C
NM_015072.5(TTLL5):c.585+2_585+11del	rs2140155252
NM_015072.5(TTLL5):c.741-1G>A	rs1887576038
NM_015072.5(TTLL5):c.75-2A>G	rs1314926139
NM_015072.5(TTLL5):c.842+1G>A	rs1887579263

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