ClinVar Miner

List of variants studied for Berardinelli-Seip congenital lipodystrophy by Baylor Genetics

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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_001122955.4(BSCL2):c.844G>A (p.Ala282Thr)	rs190842600	0.00014
NM_001122955.4(BSCL2):c.367A>T (p.Thr123Ser)	rs1349958377
NM_006412.4(AGPAT2):c.492+4_492+7del	rs1057518715
NM_006412.4(AGPAT2):c.503G>A (p.Trp168Ter)	rs1057518714

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