ClinVar Miner

List of variants reported for not provided by Leiden Muscular Dystrophy (CAV3)

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ClinVar version:
Total variants: 67
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HGVS dbSNP gnomAD frequency
NM_033337.2(CAV3):c.*932T>A rs237883 0.83353
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_033337.2(CAV3):c.-106G>A rs2072583 0.24982
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.115-23G>C rs57159780 0.09580
NM_033337.3(CAV3):c.115-89G>T rs13060135 0.09164
NM_033337.3(CAV3):c.27C>T (p.Leu9=) rs1974763 0.08452
NM_033337.3(CAV3):c.114+26G>A rs11922879 0.08126
NM_033337.3(CAV3):c.166G>A (p.Gly56Ser) rs72546667 0.03558
NM_033337.2(CAV3):c.-122C>T rs918317 0.01720
NM_033337.3(CAV3):c.171G>A (p.Val57=) rs61147808 0.01628
NM_033337.3(CAV3):c.233C>T (p.Thr78Met) rs72546668 0.00317
NM_033337.3(CAV3):c.-37G>A rs116840771 0.00282
NM_033337.2(CAV3):c.216C>G (p.Cys72Trp) rs116840776 0.00164
NM_033337.3(CAV3):c.204C>A (p.Ser68=) rs116840775 0.00007
NM_033337.3(CAV3):c.100G>A (p.Glu34Lys) rs199476325 0.00003
NM_033337.3(CAV3):c.114+99T>C rs4686299 0.00003
NM_033337.3(CAV3):c.169G>A (p.Val57Met) rs116840795 0.00001
NM_033337.3(CAV3):c.236T>G (p.Leu79Arg) rs121909282 0.00001
NM_033337.3(CAV3):c.260T>C (p.Leu87Pro) rs28936685 0.00001
NM_033337.3(CAV3):c.377G>A (p.Arg126His) rs116840777 0.00001
NM_033337.2(CAV3):c.(?_-67)_(*898_?)del
NM_033337.2(CAV3):c.*937C>A rs13067845
NM_033337.3(CAV3):c.(114+1_115-1)_(*1_?)del
NM_033337.3(CAV3):c.*740C>G rs1052354
NM_033337.3(CAV3):c.114+2T>C rs116840787
NM_033337.3(CAV3):c.115-45_115-29del rs116840772
NM_033337.3(CAV3):c.131T>A (p.Val44Glu) rs116840788
NM_033337.3(CAV3):c.136G>A (p.Ala46Thr) rs116840789
NM_033337.3(CAV3):c.136G>T (p.Ala46Ser) rs116840789
NM_033337.3(CAV3):c.137C>A (p.Ala46Glu) rs116840773
NM_033337.3(CAV3):c.137C>T (p.Ala46Val) rs116840773
NM_033337.3(CAV3):c.139G>A (p.Glu47Lys) rs116840793
NM_033337.3(CAV3):c.13dup (p.Glu5fs) rs199476323
NM_033337.3(CAV3):c.140A>C (p.Glu47Ala) rs199476327
NM_033337.3(CAV3):c.141G>T (p.Glu47Asp) rs199476328
NM_033337.3(CAV3):c.157A>G (p.Ser53Gly) rs116840794
NM_033337.3(CAV3):c.158G>A (p.Ser53Asn) rs199476326
NM_033337.3(CAV3):c.168C>A (p.Gly56=) rs116840774
NM_033337.3(CAV3):c.170T>G (p.Val57Gly) rs199476329
NM_033337.3(CAV3):c.172T>C (p.Trp58Arg) rs199476330
NM_033337.3(CAV3):c.183C>A (p.Ser61Arg) rs116840796
NM_033337.3(CAV3):c.189_197del (p.Thr64_Thr66del) rs199476331
NM_033337.3(CAV3):c.190A>C (p.Thr64Pro) rs199476332
NM_033337.3(CAV3):c.191C>G (p.Thr64Ser) rs121909280
NM_033337.3(CAV3):c.212G>A (p.Trp71Ter) rs199476333
NM_033337.3(CAV3):c.218A>G (p.Tyr73Cys) rs199476334
NM_033337.3(CAV3):c.233C>A (p.Thr78Lys) rs72546668
NM_033337.3(CAV3):c.253G>A (p.Ala85Thr) rs104893715
NM_033337.3(CAV3):c.277G>A (p.Ala93Thr) rs28936686
NM_033337.3(CAV3):c.290T>G (p.Phe97Cys) rs104893714
NM_033337.3(CAV3):c.290_292del (p.Phe97del) rs199476335
NM_033337.3(CAV3):c.298A>T (p.Ile100Phe) rs199476336
NM_033337.3(CAV3):c.301T>C (p.Trp101Arg) rs199476337
NM_033337.3(CAV3):c.307_312del (p.Val103_Val104del) rs199476338
NM_033337.3(CAV3):c.314C>T (p.Pro105Leu) rs116840805
NM_033337.3(CAV3):c.40G>C (p.Val14Leu) rs121909281
NM_033337.3(CAV3):c.423C>G (p.Ser141Arg) rs104893713
NM_033337.3(CAV3):c.79C>G (p.Arg27Gly) rs199476324
NM_033337.3(CAV3):c.80G>C (p.Arg27Pro) rs116840778
NM_033337.3(CAV3):c.84C>A (p.Asp28Glu) rs116840782
NM_033337.3(CAV3):c.85C>A (p.Pro29Thr) rs116840785
NM_033337.3(CAV3):c.86C>T (p.Pro29Leu) rs116840786

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