ClinVar Miner

List of variants reported as uncertain significance for caveolinopathy

Included ClinVar conditions (1):
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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_033337.3(CAV3):c.233C>T (p.Thr78Met) rs72546668 0.00317
NM_033337.2(CAV3):c.216C>G (p.Cys72Trp) rs116840776 0.00164
NM_033337.3(CAV3):c.*834A>T rs771619043 0.00054
NM_033337.3(CAV3):c.*741G>A rs560215660 0.00050
NM_033337.3(CAV3):c.*852G>A rs555268992 0.00022
NM_033337.3(CAV3):c.*134G>A rs949111902 0.00016
NM_033337.3(CAV3):c.*722G>A rs541417547 0.00004
NM_033337.3(CAV3):c.*312G>A rs567125845 0.00003
NM_033337.3(CAV3):c.*440G>A rs535471483 0.00003
NM_033337.3(CAV3):c.*592G>A rs187370461 0.00003
NM_033337.3(CAV3):c.*441T>C rs1161338634 0.00002
NM_033337.3(CAV3):c.442C>T (p.Arg148Trp) rs730880422 0.00002
NM_033337.3(CAV3):c.*433C>T rs886058916 0.00001
NM_033337.3(CAV3):c.*13C>A rs982749051
NM_033337.3(CAV3):c.*193T>C rs1708152367
NM_033337.3(CAV3):c.*435T>A rs1708162127
NM_033337.3(CAV3):c.*467T>C rs886058917
NM_033337.3(CAV3):c.*658T>A rs556491932
NM_033337.3(CAV3):c.*725T>C rs886058918
NM_033337.3(CAV3):c.*853T>C rs886058920
NM_033337.3(CAV3):c.*85C>A rs934971470
NM_033337.3(CAV3):c.*86G>A rs1052106103
NM_033337.3(CAV3):c.165C>A (p.Asp55Glu) rs759446749
NM_033337.3(CAV3):c.191C>G (p.Thr64Ser) rs121909280
NM_033337.3(CAV3):c.259C>T (p.Leu87Phe) rs768764242

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