ClinVar Miner

List of variants reported as pathogenic for generalized lipodystrophy by Juno Genomics, Hangzhou Juno Genomics, Inc

Included ClinVar conditions (11):

Congenital generalized lipodystrophy
Congenital generalized lipodystrophy type 1
Congenital generalized lipodystrophy type 2
Congenital generalized lipodystrophy type 2; Hereditary spastic paraplegia 17; Severe neurodegenerative syndrome with lipodystrophy; Neuronopathy, distal hereditary motor, type 5C
Congenital generalized lipodystrophy type 2; Neuronopathy, distal hereditary motor, type 5A; Hereditary spastic paraplegia 17; Severe neurodegenerative syndrome with lipodystrophy
Congenital generalized lipodystrophy type 2; Severe neurodegenerative syndrome with lipodystrophy
Congenital generalized lipodystrophy type 3
Congenital generalized lipodystrophy type 3; Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome; Pulmonary hypertension, primary, 3
Congenital generalized lipodystrophy type 3; Pulmonary hypertension, primary, 3
Congenital generalized lipodystrophy type 4
Lipodystrophy, congenital generalized, type 5

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001122955.4(BSCL2):c.757G>T (p.Glu253Ter)	rs137852975	0.00001
NM_001122955.4(BSCL2):c.974dup (p.Ile326fs)	rs749890533

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