ClinVar Miner

List of variants reported as pathogenic for Congenital generalized lipodystrophy type 2; Hereditary spastic paraplegia 17; Severe neurodegenerative syndrome with lipodystrophy; Neuronopathy, distal hereditary motor, type 5C by Fulgent Genetics, Fulgent Genetics

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001122955.4(BSCL2):c.517dup (p.Thr173fs)	rs786205071	0.00001
NM_001122955.4(BSCL2):c.974dup (p.Ile326fs)	rs749890533

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