ClinVar Miner

List of variants in gene CAVIN1 reported as likely benign for congenital generalized lipodystrophy type 4

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
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.*347C>A rs7220527 0.01753
NM_012232.6(CAVIN1):c.*703T>A rs79683345 0.01277
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.*104C>T rs532604033 0.00108
NM_012232.6(CAVIN1):c.*10G>A rs200409122 0.00016
NM_012232.6(CAVIN1):c.*2211G>A rs74685015 0.00009
NM_012232.6(CAVIN1):c.*1788C>G rs11546699
NM_012232.6(CAVIN1):c.*1912C>T rs12892
NM_012232.6(CAVIN1):c.-133C>G rs538472626

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