List of variants reported as uncertain significance for caveolinopathy

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Show significances as they were submitted (without aggregation into standard terms)
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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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