ClinVar Miner

List of variants in gene CAVIN1 studied for congenital generalized lipodystrophy

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 82
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HGVS dbSNP gnomAD frequency
NM_012232.6(CAVIN1):c.*1749T>C rs7212299 0.84147
NM_012232.6(CAVIN1):c.*190A>G rs7207285 0.83659
NM_012232.6(CAVIN1):c.*815A>G rs6416922 0.83632
NM_012232.6(CAVIN1):c.*458C>T rs6416923 0.83625
NM_012232.6(CAVIN1):c.*766T>A rs709631 0.57783
NM_012232.6(CAVIN1):c.*906G>A rs1129422 0.13601
NM_012232.6(CAVIN1):c.*1856C>T rs9252 0.06451
NM_012232.6(CAVIN1):c.*1446G>C rs4796583 0.04533
NM_012232.6(CAVIN1):c.*462C>T rs111860392 0.02222
NM_012232.6(CAVIN1):c.927G>A (p.Ala309=) rs112332573 0.01816
NM_012232.6(CAVIN1):c.*347C>A rs7220527 0.01753
NM_012232.6(CAVIN1):c.843G>A (p.Leu281=) rs35648297 0.01677
NM_012232.6(CAVIN1):c.*703T>A rs79683345 0.01277
NM_012232.6(CAVIN1):c.*363C>T rs75155493 0.00940
NM_012232.6(CAVIN1):c.*998G>A rs35725766 0.00751
NM_012232.6(CAVIN1):c.*1508G>A rs117596331 0.00541
NM_012232.6(CAVIN1):c.*2048T>C rs115889684 0.00295
NM_012232.6(CAVIN1):c.*839G>A rs181876690 0.00229
NM_012232.6(CAVIN1):c.356T>A (p.Val119Asp) rs146547678 0.00201
NM_012232.6(CAVIN1):c.540G>A (p.Glu180=) rs143511306 0.00124
NM_012232.6(CAVIN1):c.923A>G (p.Tyr308Cys) rs146799286 0.00122
NM_012232.6(CAVIN1):c.*1110C>T rs776275443 0.00121
NM_012232.6(CAVIN1):c.*104C>T rs532604033 0.00108
NM_012232.6(CAVIN1):c.65C>T (p.Pro22Leu) rs61729285 0.00106
NM_012232.6(CAVIN1):c.*1214G>A rs550372098 0.00075
NM_012232.6(CAVIN1):c.*522G>A rs534002973 0.00059
NM_012232.6(CAVIN1):c.168C>A (p.Ser56Arg) rs139531639 0.00038
NM_012232.6(CAVIN1):c.*810C>T rs558718636 0.00037
NM_012232.6(CAVIN1):c.462G>C (p.Met154Ile) rs148239625 0.00034
NM_012232.6(CAVIN1):c.*195C>G rs143895719 0.00021
NM_012232.6(CAVIN1):c.*10G>A rs200409122 0.00016
NM_012232.6(CAVIN1):c.*1232G>A rs886052947 0.00016
NM_012232.6(CAVIN1):c.*158A>T rs144298843 0.00009
NM_012232.6(CAVIN1):c.*2211G>A rs74685015 0.00009
NM_012232.6(CAVIN1):c.*999C>T rs759379641 0.00006
NM_012232.6(CAVIN1):c.-50C>T rs548579969 0.00006
NM_012232.6(CAVIN1):c.*31C>G rs775795568 0.00004
NM_012232.6(CAVIN1):c.*1479G>A rs372899540 0.00003
NM_012232.6(CAVIN1):c.836C>G (p.Thr279Arg) rs772598451 0.00003
NM_012232.6(CAVIN1):c.859C>G (p.Arg287Gly) rs146596349 0.00003
NM_012232.6(CAVIN1):c.*1549C>T rs781740643 0.00002
NM_012232.6(CAVIN1):c.232C>A (p.Arg78=) rs750373957 0.00002
NM_012232.6(CAVIN1):c.514C>G (p.Leu172Val) rs200954375 0.00002
NM_012232.6(CAVIN1):c.*1955T>C rs1266465226 0.00001
NM_012232.6(CAVIN1):c.*697A>C rs867384678 0.00001
NM_012232.6(CAVIN1):c.-143C>G rs886052949 0.00001
NM_012232.6(CAVIN1):c.1053C>T (p.Gly351=) rs374317281 0.00001
NM_012232.6(CAVIN1):c.12C>T (p.Pro4=) rs780083218 0.00001
NM_012232.6(CAVIN1):c.362dup (p.Lys122fs) rs1489315815 0.00001
NM_012232.6(CAVIN1):c.679C>T (p.Arg227Trp) rs747339228 0.00001
NM_012232.6(CAVIN1):c.*1185T>C rs886052948
NM_012232.6(CAVIN1):c.*1201T>G rs2085424170
NM_012232.6(CAVIN1):c.*1313G>T rs2085423533
NM_012232.6(CAVIN1):c.*143C>G rs148241491
NM_012232.6(CAVIN1):c.*1591T>G rs4796582
NM_012232.6(CAVIN1):c.*1704C>G rs7210713
NM_012232.6(CAVIN1):c.*1788C>G rs11546699
NM_012232.6(CAVIN1):c.*1895C>G rs1240074915
NM_012232.6(CAVIN1):c.*1912C>T rs12892
NM_012232.6(CAVIN1):c.*1990A>C rs886052946
NM_012232.6(CAVIN1):c.*2115G>T rs113990379
NM_012232.6(CAVIN1):c.-133C>G rs538472626
NM_012232.6(CAVIN1):c.135del (p.Lys45fs) rs1567782493
NM_012232.6(CAVIN1):c.141_148del (p.Asp47fs)
NM_012232.6(CAVIN1):c.160del (p.Val54fs) rs1567782465
NM_012232.6(CAVIN1):c.197A>G (p.Asp66Gly) rs2085564424
NM_012232.6(CAVIN1):c.256G>A (p.Val86Met)
NM_012232.6(CAVIN1):c.259C>T (p.Gln87Ter)
NM_012232.6(CAVIN1):c.28G>C (p.Glu10Gln)
NM_012232.6(CAVIN1):c.468C>T (p.Tyr156=) rs2085559084
NM_012232.6(CAVIN1):c.471+1G>T rs866504928
NM_012232.6(CAVIN1):c.478_481dup (p.Lys161fs) rs1567776514
NM_012232.6(CAVIN1):c.518_521del (p.Lys173fs) rs1207466199
NM_012232.6(CAVIN1):c.526del (p.Glu176fs) rs1567776490
NM_012232.6(CAVIN1):c.550G>T (p.Glu184Ter) rs199720089
NM_012232.6(CAVIN1):c.576C>G (p.Pro192=) rs559527150
NM_012232.6(CAVIN1):c.62C>T (p.Ala21Val)
NM_012232.6(CAVIN1):c.696dup (p.Lys233fs) rs1427062799
NM_012232.6(CAVIN1):c.743C>G (p.Thr248Ser)
NM_012232.6(CAVIN1):c.847C>T (p.Pro283Ser)
NM_012232.6(CAVIN1):c.905C>T (p.Thr302Met)
NM_012232.6(CAVIN1):c.917T>C (p.Val306Ala)

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