List of variants in gene TBCE reported as uncertain significance by Eurofins NTD LLC (GA)

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: 12

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HGVS	dbSNP	gnomAD frequency
NM_003193.5(TBCE):c.394G>A (p.Val132Ile)	rs144448831	0.00164
NM_003193.5(TBCE):c.585C>T (p.Ser195=)	rs139440109	0.00120
NM_003193.5(TBCE):c.253A>G (p.Ile85Val)	rs143886167	0.00076
NM_003193.5(TBCE):c.100+6C>T	rs182896657	0.00063
NM_003193.5(TBCE):c.833+8G>T	rs372236046	0.00056
NM_003193.5(TBCE):c.708T>G (p.Leu236=)	rs141498084	0.00025
NM_003193.5(TBCE):c.446C>G (p.Ala149Gly)	rs150187679	0.00016
NM_003193.5(TBCE):c.847A>T (p.Ile283Phe)	rs200022583	0.00016
NM_003193.5(TBCE):c.244C>A (p.Leu82Ile)	rs542328397	0.00001
NM_003193.5(TBCE):c.334G>A (p.Glu112Lys)	rs1558372993
NM_003193.5(TBCE):c.615A>C (p.Val205=)	rs778529540
NM_003193.5(TBCE):c.660+9_660+10del	rs569925016

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