ClinVar Miner

List of variants in gene combination CAV3, OXTR reported as likely benign by GeneDx

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_033337.3(CAV3):c.115-273T>C rs79198901 0.01203
NM_033337.3(CAV3):c.*805C>A rs186579720 0.00336
NM_033337.3(CAV3):c.115-13G>C rs368367319 0.00020
NM_033337.3(CAV3):c.306G>A (p.Ala102=) rs149375325 0.00018
NM_033337.3(CAV3):c.234G>A (p.Thr78=) rs148846096 0.00017
NM_033337.3(CAV3):c.144T>C (p.Pro48=) rs149287333 0.00016
NM_033337.3(CAV3):c.244G>A (p.Val82Ile) rs112626848 0.00007
NM_033337.3(CAV3):c.129C>T (p.Asp43=) rs374584030 0.00006
NM_033337.3(CAV3):c.451G>A (p.Val151Ile) rs780870487 0.00005
NM_033337.3(CAV3):c.384C>T (p.Phe128=) rs773934743 0.00004
NM_033337.3(CAV3):c.*123A>G rs1057523715 0.00001
NM_033337.3(CAV3):c.*6G>A rs769655378 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] rs71049744
NC_000003.12:g.8746800_8746801insTCACACACACACACACACAC rs1226912382
NM_033337.3(CAV3):c.*85C>A rs934971470
NM_033337.3(CAV3):c.115-9C>T rs1367760550
NM_033337.3(CAV3):c.177G>A (p.Lys59=) rs1708131659

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