ClinVar Miner

List of variants studied for Berardinelli-Seip congenital lipodystrophy by 3billion

Included ClinVar conditions (10):

Berardinelli-Seip congenital lipodystrophy
Congenital generalized lipodystrophy type 1
Congenital generalized lipodystrophy type 2
Congenital generalized lipodystrophy type 2; Hereditary spastic paraplegia 17
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: 3

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HGVS	dbSNP	gnomAD frequency
NM_006412.4(AGPAT2):c.662-2A>C	rs1131691791	0.00001
NM_001122955.4(BSCL2):c.404G>C (p.Arg135Thr)	rs2083508651
NM_006412.4(AGPAT2):c.38T>A (p.Leu13Ter)	rs2131023956

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