List of variants in gene EYS reported as uncertain significance by Eurofins NTD LLC (GA)

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: 26

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HGVS	dbSNP	gnomAD frequency
NM_001142800.2(EYS):c.7737T>C (p.Thr2579=)	rs191846522	0.00175
NM_001142800.2(EYS):c.5474C>A (p.Thr1825Asn)	rs182151153	0.00132
NM_001142800.2(EYS):c.5743A>G (p.Ser1915Gly)	rs188093810	0.00124
NM_001142800.2(EYS):c.5335G>A (p.Gly1779Ser)	rs186499459	0.00121
NM_001142800.2(EYS):c.1660T>A (p.Cys554Ser)	rs145102275	0.00077
NM_001142800.2(EYS):c.2234A>G (p.Asn745Ser)	rs201652272	0.00066
NM_001142800.2(EYS):c.3250A>C (p.Thr1084Pro)	rs778646190	0.00049
NM_001142800.2(EYS):c.4402G>C (p.Asp1468His)	rs778752557	0.00049
NM_001142800.2(EYS):c.3568+5T>C	rs539477235	0.00034
NM_001142800.2(EYS):c.1082T>C (p.Ile361Thr)	rs201059400	0.00030
NM_001142800.2(EYS):c.8080A>G (p.Ile2694Val)	rs35504565	0.00029
NM_001142800.2(EYS):c.2813A>G (p.Lys938Arg)	rs367857088	0.00024
NM_001142800.2(EYS):c.2971C>T (p.Leu991Phe)	rs201819948	0.00023
NM_001142800.2(EYS):c.2309A>C (p.Gln770Pro)	rs398123574	0.00019
NM_001142800.2(EYS):c.8003G>T (p.Cys2668Phe)	rs985211023	0.00004
NM_001142800.2(EYS):c.5645-8C>T	rs886044616	0.00003
NM_001142800.2(EYS):c.5777A>G (p.Asp1926Gly)	rs727503922	0.00003
NM_001142800.2(EYS):c.1799T>G (p.Leu600Trp)	rs794727057	0.00001
NM_001142800.2(EYS):c.5487A>G (p.Lys1829=)	rs373872866	0.00001
NM_001142800.2(EYS):c.5644+5G>A	rs794727412	0.00001
NM_001142800.2(EYS):c.5830T>A (p.Leu1944Ile)	rs1232523835	0.00001
NM_001142800.2(EYS):c.6475C>T (p.Pro2159Ser)	rs727503921	0.00001
NM_001142800.2(EYS):c.1800G>T (p.Leu600Phe)	rs794727056
NM_001142800.2(EYS):c.4039T>C (p.Ser1347Pro)	rs727503923
NM_001142800.2(EYS):c.6229G>A (p.Val2077Ile)	rs1214579712
NM_001142800.2(EYS):c.8138A>G (p.His2713Arg)	rs794727670

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