ClinVar Miner

List of variants reported as uncertain significance for cone dystrophy 3

Included ClinVar conditions (1):
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Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_000409.5(GUCA1ANB-GUCA1A):c.-536T>C rs543150310 0.00145
NM_001384910.1(GUCA1A):c.142C>T (p.Leu48=) rs35969994 0.00098
NM_000409.5(GUCA1ANB-GUCA1A):c.-473C>T rs572342270 0.00078
NM_001384910.1(GUCA1A):c.*10C>A rs367804008 0.00048
NM_000409.5(GUCA1ANB-GUCA1A):c.-372G>A rs200816650 0.00039
NM_000409.5(GUCA1ANB-GUCA1A):c.-466G>A rs188911829 0.00034
NM_000409.5(GUCA1ANB-GUCA1A):c.-465G>T rs181327724 0.00033
NM_001384910.1(GUCA1A):c.*357A>G rs774560916 0.00031
NM_000409.5(GUCA1ANB-GUCA1A):c.-413G>A rs144002571 0.00029
NM_001384910.1(GUCA1A):c.*213G>A rs937120260 0.00019
NM_000409.5(GUCA1ANB-GUCA1A):c.-378G>A rs184851706 0.00015
NM_001384910.1(GUCA1A):c.*548C>T rs886061392 0.00012
NM_000409.5(GUCA1ANB-GUCA1A):c.-293G>A rs748633700 0.00011
NM_001384910.1(GUCA1A):c.568G>C (p.Glu190Gln) rs137984482 0.00011
NM_172364.5(CACNA2D4):c.593T>A (p.Leu198Gln) rs200563551 0.00011
NM_001384910.1(GUCA1A):c.-242C>T rs531277306 0.00009
NM_172364.5(CACNA2D4):c.*425G>A rs886049120 0.00006
NM_001384910.1(GUCA1A):c.10G>A (p.Val4Met) rs200110820 0.00005
NM_172364.5(CACNA2D4):c.3339G>A (p.Ser1113=) rs371916321 0.00004
NM_172364.5(CACNA2D4):c.2714C>T (p.Ser905Phe) rs372942250 0.00003
NM_001384910.1(GUCA1A):c.455C>G (p.Ser152Cys) rs1300545339 0.00002
NM_001384910.1(GUCA1A):c.551A>G (p.Gln184Arg) rs149998844 0.00002
NM_001384910.1(GUCA1A):c.*336C>T rs1194029060 0.00001
NM_001384910.1(GUCA1A):c.-88G>A rs1440544847 0.00001
NM_001384910.1(GUCA1A):c.201+11G>T rs1346787374 0.00001
NM_001384910.1(GUCA1A):c.364A>G (p.Ile122Val) rs372323165 0.00001
NM_000409.5(GUCA1ANB-GUCA1A):c.-388C>A rs886061391
NM_000539.3(RHO):c.755G>C (p.Arg252Pro) rs765438313
NM_001384910.1(GUCA1A):c.*140G>C rs1352766572
NM_001384910.1(GUCA1A):c.*332T>C rs1047982770
NM_001384910.1(GUCA1A):c.*479C>G rs6899575
NM_001384910.1(GUCA1A):c.*538T>G rs1768075566
NM_001384910.1(GUCA1A):c.123G>C (p.Gln41His) rs2113833431
NM_001384910.1(GUCA1A):c.184A>C (p.Thr62Pro)
NM_001384910.1(GUCA1A):c.204C>G (p.Asp68Glu) rs776251040
NM_001384910.1(GUCA1A):c.238C>A (p.Leu80Ile) rs904381536
NM_001384910.1(GUCA1A):c.313_318del (p.Gly105_Cys106del) rs1582323230
NM_001384910.1(GUCA1A):c.431A>T (p.Asp144Val) rs1768035083
NM_001384910.1(GUCA1A):c.444T>A (p.Asp148Glu) rs1768036096
NM_001384910.1(GUCA1A):c.526C>T (p.Leu176Phe) rs794727777
NM_006205.2(PDE6H):c.-102G>T rs533569725
NM_172364.5(CACNA2D4):c.2868+4_2868+7del rs760300917
NM_172364.5(CACNA2D4):c.684A>C (p.Glu228Asp) rs886049131

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