List of variants in gene ESCO2 reported as not provided 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: 25

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HGVS	dbSNP	gnomAD frequency
NM_001017420.3(ESCO2):c.239C>T (p.Ala80Val)	rs4732748	0.10090
NM_001017420.3(ESCO2):c.1132-7A>G	rs80359862	0.00007
NM_001017420.3(ESCO2):c.1131+1G>A	rs80359861	0.00001
NM_001017420.3(ESCO2):c.1354-18G>A	rs80359865	0.00001
NM_001017420.3(ESCO2):c.505C>T (p.Arg169Ter)	rs80359849	0.00001
NM_001017420.3(ESCO2):c.1111_1112insG (p.Thr371fs)	rs1554555716
NM_001017420.3(ESCO2):c.1111dup (p.Thr371fs)	rs80359859
NM_001017420.3(ESCO2):c.1263+1G>C	rs80359863
NM_001017420.3(ESCO2):c.1269G>A (p.Trp423Ter)	rs80359864
NM_001017420.3(ESCO2):c.1461_1462del (p.Arg487fs)	rs80359866
NM_001017420.3(ESCO2):c.1615T>G (p.Trp539Gly)	rs80359868
NM_001017420.3(ESCO2):c.1674-2A>G	rs80359869
NM_001017420.3(ESCO2):c.252_253del (p.Ser85fs)	rs80359844
NM_001017420.3(ESCO2):c.294_297del (p.Arg99fs)	rs80359845
NM_001017420.3(ESCO2):c.307_311del (p.Lys103fs)	rs80359846
NM_001017420.3(ESCO2):c.308_309del (p.Lys103fs)	rs80359847
NM_001017420.3(ESCO2):c.417dup (p.Pro140fs)	rs80359848
NM_001017420.3(ESCO2):c.604C>T (p.Gln202Ter)	rs80359850
NM_001017420.3(ESCO2):c.745_746del (p.Val249fs)	rs80359851
NM_001017420.3(ESCO2):c.751dup (p.Glu251fs)	rs1554554098
NM_001017420.3(ESCO2):c.760del (p.Thr254fs)	rs80359852
NM_001017420.3(ESCO2):c.760dup (p.Thr254fs)	rs80359852
NM_001017420.3(ESCO2):c.764_765del (p.Phe255fs)	rs80359855
NM_001017420.3(ESCO2):c.876_879del (p.Asp292fs)	rs80359856
NM_001017420.3(ESCO2):c.879_880del (p.Arg293fs)	rs80359857

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