ClinVar Miner

List of variants reported as uncertain significance for severe neurodegenerative syndrome with lipodystrophy by Baylor Genetics

Included ClinVar conditions (4):

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
Severe neurodegenerative syndrome with lipodystrophy

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_001122955.4(BSCL2):c.1282C>T (p.Pro428Ser)	rs369732238	0.00004
NM_001122955.4(BSCL2):c.1360C>T (p.Arg454Ter)	rs138515091	0.00002
NM_001122955.4(BSCL2):c.1101G>A (p.Pro367=)	rs746737457	0.00001
NM_001122955.4(BSCL2):c.367A>T (p.Thr123Ser)	rs1349958377

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