ClinVar Miner

List of variants in gene combination CAV3, OXTR reported as likely benign for not provided

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Gene type:
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Total variants: 38
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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.166G>A (p.Gly56Ser) rs72546667 0.03558
NM_033337.3(CAV3):c.115-45C>T rs80340058 0.02576
NM_033337.3(CAV3):c.171G>A (p.Val57=) rs61147808 0.01628
NM_033337.3(CAV3):c.115-273T>C rs79198901 0.01302
NM_033337.3(CAV3):c.*805C>A rs186579720 0.00369
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.336C>T (p.Ile112=) rs139985460 0.00157
NM_033337.3(CAV3):c.*20G>A rs137946394 0.00114
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.115-13G>C rs368367319 0.00020
NM_033337.3(CAV3):c.306G>A (p.Ala102=) rs149375325 0.00019
NM_033337.3(CAV3):c.234G>A (p.Thr78=) rs148846096 0.00017
NM_033337.3(CAV3):c.168C>T (p.Gly56=) rs116840774 0.00010
NM_033337.3(CAV3):c.204C>A (p.Ser68=) rs116840775 0.00007
NM_033337.3(CAV3):c.244G>A (p.Val82Ile) rs112626848 0.00005
NM_033337.3(CAV3):c.451G>A (p.Val151Ile) rs780870487 0.00005
NM_033337.3(CAV3):c.201C>A (p.Val67=) rs201593267 0.00004
NM_033337.3(CAV3):c.384C>T (p.Phe128=) rs773934743 0.00004
NM_033337.3(CAV3):c.270C>T (p.Phe90=) rs750599338 0.00002
NM_033337.3(CAV3):c.165C>T (p.Asp55=) rs759446749 0.00001
NM_033337.3(CAV3):c.273G>A (p.Leu91=) rs368976665 0.00001
NC_000003.12:g.8746798_8746799insAC rs113631543
NC_000003.12:g.8746798_8746799insACAC rs113631543
NC_000003.12:g.8746799_8746808del rs1341408146
NC_000003.12:g.8746800CA[18] rs71049744
NC_000003.12:g.8746800CA[23]
NC_000003.12:g.8746800_8746801insTCACACACACACACACACAC rs1226912382
NM_033337.3(CAV3):c.115-6del rs1575477373
NM_033337.3(CAV3):c.177G>A (p.Lys59=) rs1708131659
NM_033337.3(CAV3):c.312G>A (p.Val104=) rs794727305

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