ClinVar Miner

List of variants in gene EYS reported as uncertain significance for not provided

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Gene type:
ClinVar version:
Total variants: 59
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HGVS dbSNP
GRCh37/hg19 6q12(chr6:64763755-64824952)x1
GRCh37/hg19 6q12(chr6:65286642-65952313)x1
GRCh37/hg19 6q12(chr6:65348978-66754476)x3
GRCh37/hg19 6q12(chr6:65518850-65929976)x1
GRCh37/hg19 6q12(chr6:65530342-65636572)x1
GRCh37/hg19 6q12(chr6:65594876-65619513)x3
GRCh37/hg19 6q12(chr6:65615502-65623157)x1
GRCh37/hg19 6q12(chr6:65671147-65927334)x3
GRCh37/hg19 6q12(chr6:65731552-65865552)x1
GRCh37/hg19 6q12(chr6:66025395-66225492)x3
NM_001142800.2(EYS):c.1082T>C (p.Ile361Thr) rs201059400
NM_001142800.2(EYS):c.1274G>A (p.Cys425Tyr) rs1064796021
NM_001142800.2(EYS):c.1459+5C>T rs200387978
NM_001142800.2(EYS):c.1472A>C (p.Glu491Ala) rs759752693
NM_001142800.2(EYS):c.1660T>A (p.Cys554Ser) rs145102275
NM_001142800.2(EYS):c.1799T>G (p.Leu600Trp) rs794727057
NM_001142800.2(EYS):c.1800G>T (p.Leu600Phe) rs794727056
NM_001142800.2(EYS):c.2000G>A (p.Arg667His) rs549456693
NM_001142800.2(EYS):c.2027C>T (p.Thr676Met) rs199944222
NM_001142800.2(EYS):c.2234A>G (p.Asn745Ser) rs201652272
NM_001142800.2(EYS):c.2309A>C (p.Gln770Pro) rs398123574
NM_001142800.2(EYS):c.2499T>G (p.Phe833Leu) rs1554217626
NM_001142800.2(EYS):c.2511C>T (p.Cys837=) rs999155902
NM_001142800.2(EYS):c.2613C>T (p.Asp871=) rs192059823
NM_001142800.2(EYS):c.2813A>G (p.Lys938Arg) rs367857088
NM_001142800.2(EYS):c.2971C>T (p.Leu991Phe) rs201819948
NM_001142800.2(EYS):c.3081C>T (p.Thr1027=) rs1554207086
NM_001142800.2(EYS):c.3164+8T>C rs1385606496
NM_001142800.2(EYS):c.3250A>C (p.Thr1084Pro) rs778646190
NM_001142800.2(EYS):c.3568+5T>C rs539477235
NM_001142800.2(EYS):c.3958G>A (p.Glu1320Lys) rs1554183636
NM_001142800.2(EYS):c.4039T>C (p.Ser1347Pro) rs727503923
NM_001142800.2(EYS):c.4402G>C (p.Asp1468His) rs778752557
NM_001142800.2(EYS):c.4519A>G (p.Ile1507Val) rs1373400697
NM_001142800.2(EYS):c.4985A>T (p.Asp1662Val) rs147641443
NM_001142800.2(EYS):c.5194C>G (p.His1732Asp) rs1554183468
NM_001142800.2(EYS):c.5335G>A (p.Gly1779Ser) rs186499459
NM_001142800.2(EYS):c.5474C>A (p.Thr1825Asn) rs182151153
NM_001142800.2(EYS):c.5487A>G (p.Lys1829=) rs373872866
NM_001142800.2(EYS):c.5601T>C (p.Ser1867=) rs182322608
NM_001142800.2(EYS):c.5644+5G>A rs794727412
NM_001142800.2(EYS):c.5645-8C>T rs886044616
NM_001142800.2(EYS):c.5743A>G (p.Ser1915Gly) rs188093810
NM_001142800.2(EYS):c.5777A>G (p.Asp1926Gly) rs727503922
NM_001142800.2(EYS):c.5830T>A (p.Leu1944Ile) rs1232523835
NM_001142800.2(EYS):c.602A>G (p.His201Arg) rs1011260787
NM_001142800.2(EYS):c.6229G>A (p.Val2077Ile) rs1214579712
NM_001142800.2(EYS):c.6284C>T (p.Pro2095Leu) rs200374024
NM_001142800.2(EYS):c.6475C>T (p.Pro2159Ser) rs727503921
NM_001142800.2(EYS):c.6547A>G (p.Ser2183Gly) rs368458853
NM_001142800.2(EYS):c.7124G>T (p.Cys2375Phe) rs1554182987
NM_001142800.2(EYS):c.7356C>A (p.Asn2452Lys) rs566843175
NM_001142800.2(EYS):c.7737T>C (p.Thr2579=) rs191846522
NM_001142800.2(EYS):c.7751C>G (p.Thr2584Ser) rs557892188
NM_001142800.2(EYS):c.8003G>T (p.Cys2668Phe)
NM_001142800.2(EYS):c.8035T>G (p.Cys2679Gly) rs1064797324
NM_001142800.2(EYS):c.8080A>G (p.Ile2694Val) rs35504565
NM_001142800.2(EYS):c.8138A>G (p.His2713Arg) rs794727670
NM_001142800.2(EYS):c.977G>A (p.Ser326Asn) rs112822256

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