List of variants in gene ECEL1 reported by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_004826.4(ECEL1):c.426C>A (p.Asp142Glu)	rs144928688	0.00909
NM_004826.4(ECEL1):c.51C>A (p.Val17=)	rs191331240	0.00472
NM_004826.4(ECEL1):c.155T>C (p.Leu52Pro)	rs564717204	0.00453
NM_004826.4(ECEL1):c.1656G>A (p.Lys552=)	rs1190429	0.00451
NM_004826.4(ECEL1):c.1417C>T (p.Leu473=)	rs147875963	0.00013
NM_004826.4(ECEL1):c.115T>C (p.Leu39=)
NM_004826.4(ECEL1):c.1506+1G>A	rs1690636140
NM_004826.4(ECEL1):c.2105G>T (p.Arg702Leu)	rs117012322
NM_004826.4(ECEL1):c.332del (p.Phe111fs)	rs764471983

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