List of variants in gene combination BSCL2, HNRNPUL2-BSCL2 reported as pathogenic for severe neurodegenerative syndrome with lipodystrophy

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_001122955.4(BSCL2):c.517dup (p.Thr173fs)	rs786205071	0.00001
NM_001122955.4(BSCL2):c.826G>C (p.Ala276Pro)	rs137852971	0.00001
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
NM_001122955.4(BSCL2):c.864-2A>G	rs766061024
NM_001122955.4(BSCL2):c.974dup (p.Ile326fs)	rs749890533

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