ClinVar Miner

List of variants studied for Berardinelli-Seip congenital lipodystrophy by Neuberg Centre For Genomic Medicine, NCGM

Included ClinVar conditions (9):

Berardinelli-Seip congenital 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

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_006412.4(AGPAT2):c.646A>T (p.Lys216Ter)	rs138994150	0.00103
NM_006412.4(AGPAT2):c.492+1G>A	rs933422777	0.00003
NM_001122955.4(BSCL2):c.844_854del (p.Ala282fs)	rs1064797076
NM_001122955.4(BSCL2):c.968G>A (p.Trp323Ter)
NM_006412.4(AGPAT2):c.254_258dup (p.Gln87fs)
NM_006412.4(AGPAT2):c.493-2A>G

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