ClinVar Miner

List of variants reported as uncertain significance for Exudative vitreoretinopathy 1

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Total variants: 74
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HGVS dbSNP gnomAD frequency
NM_012193.4(FZD4):c.*1050T>G rs538226404 0.00069
NM_012193.4(FZD4):c.*522C>G rs781583469 0.00057
NM_012193.4(FZD4):c.*4171A>T rs557425553 0.00051
NM_012193.4(FZD4):c.*2496G>A rs551949785 0.00045
NM_012193.4(FZD4):c.*779G>A rs775197705 0.00040
NM_012193.4(FZD4):c.*4018T>C rs749571309 0.00030
NM_012193.4(FZD4):c.*4386T>G rs766058090 0.00024
NM_012193.4(FZD4):c.*173T>G rs528411909 0.00022
NM_012193.4(FZD4):c.*4069G>A rs149300801 0.00020
NM_012193.4(FZD4):c.*1397A>G rs537699768 0.00017
NM_012193.4(FZD4):c.*3814C>T rs561552180 0.00013
NM_012193.4(FZD4):c.*1695A>C rs886048729 0.00012
NM_012193.4(FZD4):c.*3042A>G rs886048725 0.00011
NM_012193.4(FZD4):c.*701C>A rs1455077908 0.00011
NM_012193.4(FZD4):c.*2182G>A rs776307799 0.00009
NM_012193.4(FZD4):c.*2619T>C rs886048727 0.00008
NM_012193.4(FZD4):c.*3197C>G rs752566671 0.00008
NM_012193.4(FZD4):c.*4414T>C rs886048718 0.00007
NM_012193.4(FZD4):c.*2818G>A rs886048726 0.00006
NM_012193.4(FZD4):c.*4867A>G rs749654984 0.00006
NM_012193.4(FZD4):c.-252C>T rs886048736 0.00006
NM_012193.4(FZD4):c.*2779A>C rs755224013 0.00005
NM_012193.4(FZD4):c.*2181C>T rs886048728 0.00004
NM_012193.4(FZD4):c.*4756G>C rs184796229 0.00004
NM_012193.4(FZD4):c.*4068C>T rs780252206 0.00003
NM_012193.4(FZD4):c.*798G>C rs940225405 0.00003
NM_012193.4(FZD4):c.*4516C>T rs886048717 0.00002
NM_012193.4(FZD4):c.*5256G>A rs1169755179 0.00002
NM_012193.4(FZD4):c.*538G>A rs548440337 0.00002
NM_012193.4(FZD4):c.*1121G>C rs752918590 0.00001
NM_012193.4(FZD4):c.*1252C>T rs1412934981 0.00001
NM_012193.4(FZD4):c.*2087C>T rs917597502 0.00001
NM_012193.4(FZD4):c.*2150A>C rs759211275 0.00001
NM_012193.4(FZD4):c.*3052C>T rs1038082119 0.00001
NM_012193.4(FZD4):c.*312C>T rs1949284049 0.00001
NM_012193.4(FZD4):c.*3433T>G rs1319823742 0.00001
NM_012193.4(FZD4):c.*345A>G rs886048731 0.00001
NM_012193.4(FZD4):c.*3686C>G rs1024516631 0.00001
NM_012193.4(FZD4):c.*3746C>T rs886048723 0.00001
NM_012193.4(FZD4):c.*3953G>C rs527684830 0.00001
NM_012193.4(FZD4):c.*3974C>T rs1192461347 0.00001
NM_012193.4(FZD4):c.*672C>T rs886048730 0.00001
NM_012193.4(FZD4):c.84G>C (p.Leu28=) rs1280981405 0.00001
NM_024741.3(ZNF408):c.402A>G (p.Gln134=) rs561320549 0.00001
NM_012193.4(FZD4):c.*1459A>G rs1021341566
NM_012193.4(FZD4):c.*154C>T rs886048732
NM_012193.4(FZD4):c.*2051G>A rs1949268343
NM_012193.4(FZD4):c.*2091A>G rs1949267969
NM_012193.4(FZD4):c.*3479C>G rs886048724
NM_012193.4(FZD4):c.*3618G>A rs992806172
NM_012193.4(FZD4):c.*3792A>T rs886048722
NM_012193.4(FZD4):c.*4083A>C rs886048719
NM_012193.4(FZD4):c.*461G>A rs1949282591
NM_012193.4(FZD4):c.*4678A>G rs886048716
NM_012193.4(FZD4):c.*5168C>G rs1045689207
NM_012193.4(FZD4):c.*6G>A rs886048733
NM_012193.4(FZD4):c.-250G>A rs899312260
NM_012193.4(FZD4):c.-255G>T rs886048737
NM_012193.4(FZD4):c.1007G>A (p.Gly336Asp) rs2135040743
NM_012193.4(FZD4):c.1468A>T (p.Thr490Ser) rs765834466
NM_012193.4(FZD4):c.1475G>A (p.Gly492Asp)
NM_012193.4(FZD4):c.1541C>T (p.Ser514Phe) rs886048734
NM_012193.4(FZD4):c.1567G>C (p.Gly523Arg) rs199577384
NM_012193.4(FZD4):c.18A>C (p.Ala6=) rs1949325075
NM_012193.4(FZD4):c.203G>T (p.Gly68Val)
NM_012193.4(FZD4):c.304T>A (p.Tyr102Asn) rs886048735
NM_012193.4(FZD4):c.461A>G (p.His154Arg) rs1334686841
NM_012193.4(FZD4):c.718A>G (p.Thr240Ala) rs1949297471
NM_024741.2(ZNF408):c.-111C>A rs796065314
NM_024741.2(ZNF408):c.-214_-210delGAATC rs796065313
NM_024741.3(ZNF408):c.130C>T (p.Pro44Ser) rs796065315
NM_024741.3(ZNF408):c.1850C>A (p.Thr617Asn) rs547169524
NM_024741.3(ZNF408):c.2145G>T (p.Glu715Asp) rs796065317
NM_024741.3(ZNF408):c.694A>G (p.Met232Val) rs796065316

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