ClinVar Miner

List of variants studied for caveolinopathy

Included ClinVar conditions (1):
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Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_033337.3(CAV3):c.*645A>T rs11476 0.42415
NM_033337.3(CAV3):c.*811C>G rs10882 0.39333
NM_033337.3(CAV3):c.99C>T (p.Asn33=) rs1008642 0.35756
NM_033337.3(CAV3):c.*783A>G rs7629329 0.30735
NM_033337.3(CAV3):c.123T>C (p.Phe41=) rs13087941 0.23875
NM_033337.3(CAV3):c.*543T>C rs13093809 0.10412
NM_033337.3(CAV3):c.27C>T (p.Leu9=) rs1974763 0.08452
NM_033337.3(CAV3):c.166G>A (p.Gly56Ser) rs72546667 0.03558
NM_033337.3(CAV3):c.171G>A (p.Val57=) rs61147808 0.01628
NM_033337.3(CAV3):c.*276C>T rs77367257 0.01623
NM_033337.3(CAV3):c.*805C>A rs186579720 0.00369
NM_033337.3(CAV3):c.233C>T (p.Thr78Met) rs72546668 0.00317
NM_033337.3(CAV3):c.-37G>A rs116840771 0.00282
NM_033337.3(CAV3):c.*788C>A rs181285740 0.00251
NM_033337.3(CAV3):c.*38G>C rs72546670 0.00210
NM_033337.2(CAV3):c.216C>G (p.Cys72Trp) rs116840776 0.00164
NM_033337.3(CAV3):c.336C>T (p.Ile112=) rs139985460 0.00157
NM_033337.3(CAV3):c.*20G>A rs137946394 0.00114
NM_033337.3(CAV3):c.*763G>A rs185369734 0.00083
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.276C>T (p.Phe92=) rs72546669 0.00049
NM_033337.3(CAV3):c.443G>A (p.Arg148Gln) rs140575619 0.00049
NM_033337.3(CAV3):c.417C>T (p.Val139=) rs147250678 0.00043
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.*277G>A rs184247243 0.00014
NM_033337.3(CAV3):c.204C>A (p.Ser68=) rs116840775 0.00007
NM_033337.3(CAV3):c.*722G>A rs541417547 0.00004
NM_033337.3(CAV3):c.201C>A (p.Val67=) rs201593267 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.*340G>A rs538468291
NM_033337.3(CAV3):c.*435T>A rs1708162127
NM_033337.3(CAV3):c.*467T>C rs886058917
NM_033337.3(CAV3):c.*569G>A rs541345818
NM_033337.3(CAV3):c.*598G>C rs190490095
NM_033337.3(CAV3):c.*658T>A rs556491932
NM_033337.3(CAV3):c.*725T>C rs886058918
NM_033337.3(CAV3):c.*813del rs66667169
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.-33G>T rs72546666
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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