List of variants in gene EYS reported as likely benign by GeneDx

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: 16

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HGVS	dbSNP	gnomAD frequency
NM_001142800.2(EYS):c.2846+174T>G	rs142709378	0.01911
NM_001142800.2(EYS):c.2500G>A (p.Val834Ile)	rs112464110	0.00293
NM_001142800.2(EYS):c.3329C>G (p.Thr1110Ser)	rs143327210	0.00223
NM_001142800.2(EYS):c.-337T>A	rs145321084	0.00201
NM_001142800.2(EYS):c.6632C>T (p.Ser2211Leu)	rs145623359	0.00148
NM_001142800.2(EYS):c.1184+14T>C	rs182780299	0.00132
NM_001142800.2(EYS):c.5743A>G (p.Ser1915Gly)	rs188093810	0.00124
NM_001142800.2(EYS):c.3250A>C (p.Thr1084Pro)	rs778646190	0.00049
NM_001142800.2(EYS):c.2992+12T>A	rs1064794365	0.00001
GRCh38/hg38 6q12(chr6:65084129-65104371)x1
NC_000006.12:g.65707335C>A
NM_001142800.2(EYS):c.2024-15dup	rs202085379
NM_001142800.2(EYS):c.5645-102C>T	rs3857528
NM_001142800.2(EYS):c.6079-216C>T
NM_001142800.2(EYS):c.6079-85A>G
NM_001142800.2(EYS):c.7411+95dup

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