ClinVar Miner

List of variants studied for cone dystrophy 3

Included ClinVar conditions (1):
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Total variants: 80
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HGVS dbSNP gnomAD frequency
NM_172364.5(CACNA2D4):c.979A>G (p.Ile327Val) rs10735005 0.91686
NM_000409.5(GUCA1ANB-GUCA1A):c.-472A>C rs1132156 0.67936
NM_001384910.1(GUCA1A):c.-83G>A rs9471793 0.17353
NM_001384910.1(GUCA1A):c.-26A>G rs6937603 0.14446
NM_001384910.1(GUCA1A):c.*479C>T rs6899575 0.02610
NM_172364.5(CACNA2D4):c.*1078del rs3214264 0.02123
NM_001384910.1(GUCA1A):c.567C>T (p.Asp189=) rs34925828 0.01271
NM_001384910.1(GUCA1A):c.*76C>A rs76792280 0.01120
NM_001384910.1(GUCA1A):c.*345G>A rs115636833 0.00658
NM_001384910.1(GUCA1A):c.*331A>G rs45553838 0.00510
NM_001384910.1(GUCA1A):c.*415C>T rs182201426 0.00439
NM_001384910.1(GUCA1A):c.9C>T (p.Asn3=) rs116114043 0.00387
NM_172364.5(CACNA2D4):c.2120G>A (p.Arg707His) rs76064926 0.00329
NM_001384910.1(GUCA1A):c.*627T>A rs56285673 0.00261
NM_000409.5(GUCA1ANB-GUCA1A):c.-536T>C rs543150310 0.00145
NM_001384910.1(GUCA1A):c.149C>T (p.Pro50Leu) rs104893968 0.00130
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_133497.4(KCNV2):c.80G>A (p.Arg27His) rs145731729 0.00044
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_000409.5(GUCA1ANB-GUCA1A):c.-457-8C>T rs58894089
NM_000539.3(RHO):c.755G>C (p.Arg252Pro) rs765438313
NM_001384910.1(GUCA1A):c.*140G>C rs1352766572
NM_001384910.1(GUCA1A):c.*227C>A rs566678219
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.250C>T (p.Leu84Phe) rs869320709
NM_001384910.1(GUCA1A):c.256G>C (p.Gly86Arg) rs1768014561
NM_001384910.1(GUCA1A):c.295T>A (p.Tyr99Asn) rs1768016404
NM_001384910.1(GUCA1A):c.296A>C (p.Tyr99Ser) rs104893967
NM_001384910.1(GUCA1A):c.296A>G (p.Tyr99Cys) rs104893967
NM_001384910.1(GUCA1A):c.299A>G (p.Asp100Gly) rs1768016995
NM_001384910.1(GUCA1A):c.300T>A (p.Asp100Glu) rs1319646518
NM_001384910.1(GUCA1A):c.312C>A (p.Asn104Lys) rs749013749
NM_001384910.1(GUCA1A):c.313_318del (p.Gly105_Cys106del) rs1582323230
NM_001384910.1(GUCA1A):c.320T>C (p.Ile107Thr) rs869320710
NM_001384910.1(GUCA1A):c.332A>T (p.Glu111Val) rs1554186385
NM_001384910.1(GUCA1A):c.333G>C (p.Glu111Asp) rs1768018709
NM_001384910.1(GUCA1A):c.359G>T (p.Arg120Leu) rs1582323732
NM_001384910.1(GUCA1A):c.359_360delinsTT (p.Arg120Leu) rs1554186441
NM_001384910.1(GUCA1A):c.431A>G (p.Asp144Gly) rs1768035083
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.451C>T (p.Leu151Phe) rs121434631
NM_001384910.1(GUCA1A):c.464A>G (p.Glu155Gly) rs1768050305
NM_001384910.1(GUCA1A):c.465G>C (p.Glu155Asp) rs2113838890
NM_001384910.1(GUCA1A):c.526C>T (p.Leu176Phe) rs794727777
NM_006205.2(PDE6H):c.-102G>T rs533569725
NM_172364.5(CACNA2D4):c.*1202del rs57667551
NM_172364.5(CACNA2D4):c.*1428_*1429insGAG rs77487055
NM_172364.5(CACNA2D4):c.2868+4_2868+7del rs760300917
NM_172364.5(CACNA2D4):c.684A>C (p.Glu228Asp) rs886049131

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