List of variants in gene ESCO2 reported as uncertain significance for ESCO2-related disorder

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: 5

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HGVS	dbSNP	gnomAD frequency
NM_001017420.3(ESCO2):c.577C>T (p.Arg193Trp)	rs143539004	0.00079
NM_001017420.3(ESCO2):c.929A>T (p.Glu310Val)	rs145734811	0.00058
NM_001017420.3(ESCO2):c.26G>A (p.Arg9Lys)	rs145248677	0.00009
NM_001017420.3(ESCO2):c.38C>A (p.Ser13Tyr)	rs771125221	0.00001
NM_001017420.3(ESCO2):c.1614C>G (p.Ile538Met)	rs1805381423

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