List of variants in gene EVC2 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: 18

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HGVS	dbSNP	gnomAD frequency
NM_147127.5(EVC2):c.18C>T (p.Ser6=)	rs556910528	0.00207
NM_147127.5(EVC2):c.1823G>A (p.Arg608His)	rs145693546	0.00129
NM_147127.5(EVC2):c.2244C>T (p.Thr748=)	rs146588335	0.00090
NM_147127.5(EVC2):c.2304G>C (p.Val768=)	rs139936564	0.00030
NM_147127.5(EVC2):c.2340C>T (p.His780=)	rs150691722	0.00010
NM_147127.5(EVC2):c.129C>T (p.Gly43=)	rs985034372	0.00009
NM_147127.5(EVC2):c.765C>T (p.Asn255=)	rs139129327	0.00009
NM_147127.5(EVC2):c.530C>T (p.Ser177Leu)	rs145758016	0.00008
NM_147127.5(EVC2):c.878C>T (p.Pro293Leu)	rs138882677	0.00006
NM_147127.5(EVC2):c.126C>T (p.Leu42=)	rs781009014	0.00005
NM_147127.5(EVC2):c.2517A>G (p.Ser839=)	rs756424912	0.00004
NM_147127.5(EVC2):c.1499G>A (p.Arg500Gln)	rs770644264	0.00002
NM_147127.5(EVC2):c.2254C>T (p.Arg752Trp)	rs532778814	0.00001
NM_147127.5(EVC2):c.2758C>T (p.Leu920Phe)	rs762404021	0.00001
NM_147127.5(EVC2):c.3020A>C (p.Lys1007Thr)	rs727503920	0.00001
NM_147127.5(EVC2):c.1711-11_1711-10dup	rs35103377
NM_147127.5(EVC2):c.2301G>A (p.Gly767=)	rs374178504
NM_147127.5(EVC2):c.3703T>C (p.Phe1235Leu)	rs794727367

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