ClinVar Miner

List of variants reported as benign for corneal endothelial dystrophy by Illumina Laboratory Services, Illumina

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 27
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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.432C>G (p.Asp144Glu) rs140122268 0.00286
NM_014588.6(VSX1):c.*199G>A rs145201675 0.00178
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.717G>A (p.Gly239=) rs141410824 0.00012
NM_014588.6(VSX1):c.60C>T (p.Gly20=) rs776758064 0.00009
NM_014588.6(VSX1):c.628-13T>C rs775616468 0.00004
NM_014588.5(VSX1):c.-274_-270GGGGT[2] rs144366921
NM_014588.6(VSX1):c.479G>A (p.Gly160Asp) rs74315433
NM_014588.6(VSX1):c.612C>T (p.Pro204=) rs200369946
NM_014588.6(VSX1):c.809-6dup rs11427085

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