ClinVar Miner

List of variants studied for severe neurodegenerative syndrome with lipodystrophy by OMIM

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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001122955.4(BSCL2):c.985C>T (p.Arg329Ter)	rs587777606	0.00001
NM_001122955.4(BSCL2):c.509_513del (p.Tyr170fs)	rs587777608
NM_001122955.4(BSCL2):c.538G>T (p.Glu180Ter)	rs587777607

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