ClinVar Miner

List of variants in gene CAV3 reported as not provided

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Total variants: 50
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HGVS dbSNP
NM_001234.5(CAV3):c.171G>A (p.Val57=) rs61147808
NM_001234.5(CAV3):c.204C>A (p.Ser68=) rs116840775
NM_001234.5(CAV3):c.233C>T (p.Thr78Met) rs72546668
NM_033337.2(CAV3):c.(115-?)_(*898_?)del
NM_033337.2(CAV3):c.*543T>C rs13093809
NM_033337.2(CAV3):c.*645A>T rs11476
NM_033337.2(CAV3):c.*740C>G rs1052354
NM_033337.2(CAV3):c.*783A>G rs7629329
NM_033337.2(CAV3):c.*811C>G rs10882
NM_033337.2(CAV3):c.*932T>A rs237883
NM_033337.2(CAV3):c.*937C>A rs13067845
NM_033337.2(CAV3):c.115-23G>C rs57159780
NM_033337.2(CAV3):c.115-45_115-29del rs116840772
NM_033337.2(CAV3):c.115-89G>T rs13060135
NM_033337.2(CAV3):c.123T>C (p.Phe41=) rs13087941
NM_033337.2(CAV3):c.131T>A (p.Val44Glu) rs116840788
NM_033337.2(CAV3):c.136G>A (p.Ala46Thr) rs116840789
NM_033337.2(CAV3):c.136G>T (p.Ala46Ser) rs116840789
NM_033337.2(CAV3):c.137C>A (p.Ala46Glu) rs116840773
NM_033337.2(CAV3):c.137C>T (p.Ala46Val) rs116840773
NM_033337.2(CAV3):c.139G>A (p.Glu47Lys) rs116840793
NM_033337.2(CAV3):c.140A>C (p.Glu47Ala) rs199476327
NM_033337.2(CAV3):c.141G>T (p.Glu47Asp) rs199476328
NM_033337.2(CAV3):c.157A>G (p.Ser53Gly) rs116840794
NM_033337.2(CAV3):c.158G>A (p.Ser53Asn) rs199476326
NM_033337.2(CAV3):c.166G>A (p.Gly56Ser) rs72546667
NM_033337.2(CAV3):c.168C>A (p.Gly56=) rs116840774
NM_033337.2(CAV3):c.169G>A (p.Val57Met) rs116840795
NM_033337.2(CAV3):c.170T>G (p.Val57Gly) rs199476329
NM_033337.2(CAV3):c.172T>C (p.Trp58Arg) rs199476330
NM_033337.2(CAV3):c.183C>A (p.Ser61Arg) rs116840796
NM_033337.2(CAV3):c.189_197delCACCTTCAC (p.Thr64_Thr66del) rs199476331
NM_033337.2(CAV3):c.190A>C (p.Thr64Pro) rs199476332
NM_033337.2(CAV3):c.191C>G (p.Thr64Ser) rs121909280
NM_033337.2(CAV3):c.212G>A (p.Trp71Ter) rs199476333
NM_033337.2(CAV3):c.216C>G (p.Cys72Trp) rs116840776
NM_033337.2(CAV3):c.218A>G (p.Tyr73Cys) rs199476334
NM_033337.2(CAV3):c.233C>A (p.Thr78Lys) rs72546668
NM_033337.2(CAV3):c.236T>G (p.Leu79Arg) rs121909282
NM_033337.2(CAV3):c.253G>A (p.Ala85Thr) rs104893715
NM_033337.2(CAV3):c.260T>C (p.Leu87Pro) rs28936685
NM_033337.2(CAV3):c.277G>A (p.Ala93Thr) rs28936686
NM_033337.2(CAV3):c.290T>G (p.Phe97Cys) rs104893714
NM_033337.2(CAV3):c.290_292del (p.Phe97del) rs199476335
NM_033337.2(CAV3):c.298A>T (p.Ile100Phe) rs199476336
NM_033337.2(CAV3):c.301T>C (p.Trp101Arg) rs199476337
NM_033337.2(CAV3):c.307_312del (p.Val103_Val104del) rs199476338
NM_033337.2(CAV3):c.314C>T (p.Pro105Leu) rs116840805
NM_033337.2(CAV3):c.377G>A (p.Arg126His) rs116840777
NM_033337.2(CAV3):c.423C>G (p.Ser141Arg) rs104893713

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