List of variants in gene EYS reported as likely pathogenic by Counsyl

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: 7

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HGVS	dbSNP	gnomAD frequency
NM_001142800.2(EYS):c.3443+1G>T	rs373441420	0.00022
NM_001142800.2(EYS):c.8168del (p.Gln2723fs)	rs1168101857	0.00001
NM_001142800.2(EYS):c.4393dup (p.Ala1465fs)	rs750840208
NM_001142800.2(EYS):c.6229_6238del (p.Val2077fs)	rs1554220416
NM_001142800.2(EYS):c.7229-1G>A	rs1554171033
NM_001142800.2(EYS):c.8133_8137del (p.Phe2712fs)	rs751629543
NM_001142800.2(EYS):c.8155_8156del (p.His2719fs)	rs764229134

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