List of variants in gene ESCO2 reported as likely pathogenic for autosomal recessive disease

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: 9

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HGVS	dbSNP	gnomAD frequency
NM_001017420.3(ESCO2):c.1132-7A>G	rs80359862	0.00007
NM_001017420.3(ESCO2):c.1175G>A (p.Cys392Tyr)	rs146312522	0.00001
NM_001017420.3(ESCO2):c.1013+1G>A	rs1225195349
NM_001017420.3(ESCO2):c.1111dup (p.Thr371fs)	rs80359859
NM_001017420.3(ESCO2):c.1166G>A (p.Cys389Tyr)	rs2128955152
NM_001017420.3(ESCO2):c.116dup (p.Asn39fs)	rs1585389705
NM_001017420.3(ESCO2):c.845_848del (p.Lys282fs)
NM_001017420.3(ESCO2):c.862-2A>G	rs1804892169
NM_001017420.3(ESCO2):c.956-2A>G	rs1207909659

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