ClinVar Miner

List of variants in gene VSX1 studied for corneal dystrophy

Included ClinVar conditions (45):
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Gene type:
ClinVar version:
Total variants: 68
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HGVS dbSNP gnomAD frequency
NM_014588.6(VSX1):c.546A>G (p.Ala182=) rs12480307 0.29623
NM_014588.6(VSX1):c.*453del rs11478193 0.07828
NM_014588.6(VSX1):c.18G>T (p.Ser6=) rs8123716 0.06535
NM_014588.6(VSX1):c.391C>A (p.Arg131Ser) rs6050307 0.03467
NM_014588.6(VSX1):c.*496A>G rs76499395 0.03452
NM_014588.6(VSX1):c.315C>A (p.Asp105Glu) rs6115023 0.02185
NM_014588.6(VSX1):c.*745G>A rs6050301 0.01546
NM_014588.6(VSX1):c.339C>T (p.Gly113=) rs6037016 0.01324
NM_014588.6(VSX1):c.*200G>T rs75590263 0.01070
NM_014588.6(VSX1):c.*104C>T rs148709299 0.00467
NM_014588.5(VSX1):c.-197G>A rs116022495 0.00408
NM_014588.6(VSX1):c.174G>T (p.Pro58=) rs141241716 0.00398
NM_014588.6(VSX1):c.731A>G (p.His244Arg) rs148957473 0.00310
NM_014588.6(VSX1):c.432C>G (p.Asp144Glu) rs140122268 0.00286
NM_014588.6(VSX1):c.*199G>A rs145201675 0.00178
NM_014588.5(VSX1):c.-244G>T rs567067551 0.00108
NM_014588.5(VSX1):c.-289C>G rs575314822 0.00097
NM_014588.6(VSX1):c.173C>T (p.Pro58Leu) rs369865672 0.00087
NM_014588.6(VSX1):c.628-4C>T rs181156458 0.00073
NM_014588.6(VSX1):c.474C>G (p.Thr158=) rs199995626 0.00057
NM_014588.6(VSX1):c.81C>T (p.Arg27=) rs566762847 0.00036
NM_014588.6(VSX1):c.*744C>A rs139744143 0.00032
NM_014588.6(VSX1):c.528G>A (p.Leu176=) rs143099682 0.00029
NM_014588.6(VSX1):c.497G>A (p.Arg166Gln) rs150297220 0.00024
NM_014588.6(VSX1):c.*416T>C rs976857671 0.00016
NM_014588.6(VSX1):c.281C>A (p.Ala94Glu) rs886056557 0.00013
NM_014588.6(VSX1):c.717G>A (p.Gly239=) rs141410824 0.00012
NM_014588.5(VSX1):c.*820T>C rs186958062 0.00011
NM_014588.6(VSX1):c.*506T>C rs886056554 0.00010
NM_014588.6(VSX1):c.50T>C (p.Leu17Pro) rs74315436 0.00010
NM_014588.6(VSX1):c.165C>A (p.Cys55Ter) rs756572706 0.00009
NM_014588.6(VSX1):c.389G>A (p.Gly130Asp) rs112232028 0.00009
NM_014588.6(VSX1):c.60C>T (p.Gly20=) rs776758064 0.00009
NM_014588.6(VSX1):c.*112A>G rs757521024 0.00008
NM_014588.6(VSX1):c.*223G>A rs752720378 0.00006
NM_014588.6(VSX1):c.379C>T (p.Pro127Ser) rs1427801501 0.00006
NM_014588.6(VSX1):c.475T>A (p.Leu159Met) rs74315434 0.00006
NM_014588.6(VSX1):c.*3C>A rs201807082 0.00005
NM_014588.6(VSX1):c.*169G>A rs1437204062 0.00004
NM_014588.6(VSX1):c.*64G>T rs908641940 0.00004
NM_014588.6(VSX1):c.452A>G (p.Asn151Ser) rs201716527 0.00004
NM_014588.6(VSX1):c.628-13T>C rs775616468 0.00004
NM_014588.6(VSX1):c.496C>T (p.Arg166Trp) rs74315432 0.00003
NM_014588.5(VSX1):c.-175C>G rs752774218 0.00002
NM_014588.5(VSX1):c.-271G>T rs886056560 0.00001
NM_014588.6(VSX1):c.*159G>A rs747213856 0.00001
NM_014588.6(VSX1):c.*749C>T rs191546716 0.00001
NM_014588.6(VSX1):c.*89T>C rs886056555 0.00001
NM_014588.6(VSX1):c.378G>A (p.Pro126=) rs993182248 0.00001
NM_014588.6(VSX1):c.387C>G (p.Leu129=) rs757690043 0.00001
NM_014588.6(VSX1):c.485G>A (p.Arg162Lys) rs371672721 0.00001
NM_014588.6(VSX1):c.557C>T (p.Ala186Val) rs767762959 0.00001
NM_014588.6(VSX1):c.768C>T (p.Ala256=) rs1457505437 0.00001
NM_014588.6(VSX1):c.83C>T (p.Pro28Leu) rs370818926 0.00001
NM_014588.5(VSX1):c.-239G>C rs886056559
NM_014588.5(VSX1):c.-274_-270GGGGT[2] rs144366921
NM_014588.5(VSX1):c.-274_-270GGGGT[3] rs144366921
NM_014588.5(VSX1):c.-61C>G rs886056558
NM_014588.6(VSX1):c.*396T>G rs2089477655
NM_014588.6(VSX1):c.*610G>A rs760422181
NM_014588.6(VSX1):c.*88C>G rs886056556
NM_014588.6(VSX1):c.479G>A (p.Gly160Asp) rs74315433
NM_014588.6(VSX1):c.479G>T (p.Gly160Val) rs74315433
NM_014588.6(VSX1):c.578C>T (p.Ala193Val) rs2089572820
NM_014588.6(VSX1):c.612C>T (p.Pro204=) rs200369946
NM_014588.6(VSX1):c.740C>G (p.Pro247Arg) rs576300014
NM_014588.6(VSX1):c.809-6dup rs11427085
NM_014588.6(VSX1):c.871C>T (p.Leu291Phe) rs762996146

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