ClinVar Miner

List of variants in gene EYS reported as likely benign

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Gene type:
ClinVar version:
Total variants: 47
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HGVS dbSNP
GRCh37/hg19 6q12(chr6:65854590-65972753)x3
GRCh38/hg38 6q12(chr6:65084129-65104371)x1
NM_001142800.1(EYS):c.2024-15dup rs202085379
NM_001142800.2(EYS):c.-337T>A rs145321084
NM_001142800.2(EYS):c.-459C>T rs144371265
NM_001142800.2(EYS):c.-500A>G rs1490127
NM_001142800.2(EYS):c.1146T>C (p.Asn382=) rs974110
NM_001142800.2(EYS):c.1184+14T>C rs182780299
NM_001142800.2(EYS):c.1300-3C>T rs1936439
NM_001142800.2(EYS):c.1712A>G (p.Gln571Arg) rs61753610
NM_001142800.2(EYS):c.1809C>T (p.Val603=) rs9345601
NM_001142800.2(EYS):c.1922A>T (p.Glu641Val) rs17411795
NM_001142800.2(EYS):c.2023+15del rs35045551
NM_001142800.2(EYS):c.2024-14C>T rs45628235
NM_001142800.2(EYS):c.2024-14_2024-13insT rs142590049
NM_001142800.2(EYS):c.2157C>T (p.Cys719=) rs9453148
NM_001142800.2(EYS):c.2739G>A (p.Arg913=) rs77020971
NM_001142800.2(EYS):c.2992+12T>A rs1064794365
NM_001142800.2(EYS):c.334G>A (p.Val112Ile) rs112609906
NM_001142800.2(EYS):c.3444-5C>T rs9445051
NM_001142800.2(EYS):c.3489T>A (p.Asn1163Lys) rs150951106
NM_001142800.2(EYS):c.359C>T (p.Thr120Met) rs12193967
NM_001142800.2(EYS):c.3787A>G (p.Ile1263Val) rs17404123
NM_001142800.2(EYS):c.3906C>T (p.His1302=) rs12663916
NM_001142800.2(EYS):c.3936A>G (p.Thr1312=) rs12662610
NM_001142800.2(EYS):c.3973C>G (p.Gln1325Glu) rs12663622
NM_001142800.2(EYS):c.4026C>T (p.Ser1342=) rs12663619
NM_001142800.2(EYS):c.4081A>G (p.Ile1361Val) rs17403955
NM_001142800.2(EYS):c.4352T>C (p.Ile1451Thr) rs62415828
NM_001142800.2(EYS):c.4543C>T (p.Arg1515Trp) rs62415827
NM_001142800.2(EYS):c.4549A>G (p.Ser1517Gly) rs62415826
NM_001142800.2(EYS):c.4554A>C (p.Thr1518=) rs772339340
NM_001142800.2(EYS):c.4593G>A (p.Glu1531=) rs62415825
NM_001142800.2(EYS):c.4985A>T (p.Asp1662Val) rs147641443
NM_001142800.2(EYS):c.5244A>C (p.Leu1748Phe) rs57312007
NM_001142800.2(EYS):c.5510G>C (p.Trp1837Ser) rs199689193
NM_001142800.2(EYS):c.5601T>C (p.Ser1867=) rs182322608
NM_001142800.2(EYS):c.5617C>G (p.Leu1873Val) rs16895517
NM_001142800.2(EYS):c.5705A>T (p.Asn1902Ile) rs9353806
NM_001142800.2(EYS):c.5977A>G (p.Thr1993Ala) rs115066356
NM_001142800.2(EYS):c.6025A>G (p.Lys2009Glu) rs559078881
NM_001142800.2(EYS):c.6119T>A (p.Val2040Asp) rs201580493
NM_001142800.2(EYS):c.6726-24613G>T rs151229098
NM_001142800.2(EYS):c.6977G>A (p.Arg2326Gln) rs4710457
NM_001142800.2(EYS):c.7666A>T (p.Ser2556Cys) rs66462731
NM_001142800.2(EYS):c.7796A>G (p.His2599Arg) rs74636274
NM_001142800.2(EYS):c.977G>A (p.Ser326Asn) rs112822256

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