ClinVar Miner

List of variants reported as benign for caveolinopathy

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 24
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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.*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.*276C>T rs77367257 0.01623
NM_033337.3(CAV3):c.*805C>A rs186579720 0.00369
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_033337.3(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.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.*277G>A rs184247243 0.00014
NM_033337.3(CAV3):c.204C>A (p.Ser68=) rs116840775 0.00007
NM_033337.3(CAV3):c.201C>A (p.Val67=) rs201593267 0.00004
NM_033337.3(CAV3):c.*340G>A rs538468291
NM_033337.3(CAV3):c.*569G>A rs541345818
NM_033337.3(CAV3):c.*598G>C rs190490095
NM_033337.3(CAV3):c.-33G>T rs72546666

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