Variants in gene EYS with conflicting interpretations "likely pathogenic" and "uncertain significance"

Submission 1 (likely pathogenic) minimum review status:		Submission 1 (likely pathogenic) method:
Submission 2 (uncertain significance) minimum review status:		Submission 2 (uncertain significance) method:
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants with conflicting interpretations: 16

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HGVS	dbSNP	gnomAD frequency
NM_001142800.2(EYS):c.977G>A (p.Ser326Asn)	rs112822256	0.00379
NM_001142800.2(EYS):c.6119T>A (p.Val2040Asp)	rs201580493	0.00166
NM_001142800.2(EYS):c.2234A>G (p.Asn745Ser)	rs201652272	0.00066
NM_001142800.2(EYS):c.1852G>A (p.Gly618Ser)	rs142450703	0.00043
NM_001142800.2(EYS):c.2137+1G>A	rs199740930	0.00034
NM_001142800.2(EYS):c.7811G>A (p.Arg2604His)	rs368798160	0.00007
NM_001142800.2(EYS):c.6473T>C (p.Leu2158Pro)	rs777735735	0.00005
NM_001142800.2(EYS):c.7810C>T (p.Arg2604Cys)	rs1015857165	0.00003
NM_001142800.2(EYS):c.-448+5G>A	rs1175129177	0.00002
NM_001142800.2(EYS):c.5644+5G>A	rs794727412	0.00001
NM_001142800.2(EYS):c.5959A>C (p.Thr1987Pro)	rs1278246029	0.00001
NM_001142800.2(EYS):c.1299+5_1299+8del	rs1562140604
NM_001142800.2(EYS):c.2000G>A (p.Arg667His)	rs549456693
NM_001142800.2(EYS):c.2023+5G>T	rs1287889008
NM_001142800.2(EYS):c.525_527del (p.Glu176del)	rs780433094
NM_001142800.2(EYS):c.7228G>T (p.Ala2410Ser)	rs915505702

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