ClinVar Miner

List of variants reported as pathogenic for congenital generalized lipodystrophy type 4

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NM_012232.6(CAVIN1):c.135del (p.Lys45fs) rs1567782493
NM_012232.6(CAVIN1):c.160del (p.Val54fs) rs1567782465
NM_012232.6(CAVIN1):c.362dup (p.Lys122fs) rs1489315815
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.696dup (p.Lys233fs) rs1427062799

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