List of variants in gene ESCO2 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: 11

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HGVS	dbSNP	gnomAD frequency
NM_001017420.3(ESCO2):c.577C>T (p.Arg193Trp)	rs143539004	0.00080
NM_001017420.3(ESCO2):c.1013+7A>G	rs149494070	0.00074
NM_001017420.3(ESCO2):c.1031A>C (p.Gln344Pro)	rs143346057	0.00067
NM_001017420.3(ESCO2):c.929A>T (p.Glu310Val)	rs145734811	0.00058
NM_001017420.3(ESCO2):c.304A>G (p.Ile102Val)	rs201354290	0.00008
NM_001017420.3(ESCO2):c.331A>G (p.Lys111Glu)	rs147327594	0.00004
NM_001017420.3(ESCO2):c.91A>G (p.Asn31Asp)	rs144747170	0.00004
NM_001017420.3(ESCO2):c.515A>G (p.Tyr172Cys)	rs201521463	0.00001
NM_001017420.3(ESCO2):c.738A>G (p.Val246=)	rs886044291	0.00001
NM_001017420.3(ESCO2):c.340G>A (p.Asp114Asn)	rs1384840083
NM_001017420.3(ESCO2):c.637G>C (p.Val213Leu)	rs1563468980

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