List of variants in gene combination BSCL2, HNRNPUL2-BSCL2 reported as likely pathogenic by Invitae

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
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.1004A>C (p.Gln335Pro)	rs779199750	0.00001
NM_001122955.4(BSCL2):c.486+1G>A	rs1011200048	0.00001
NM_001122955.4(BSCL2):c.1006-1G>A	rs777430457
NM_001122955.4(BSCL2):c.1006-2A>C
NM_001122955.4(BSCL2):c.1154-1del	rs1945285043
NM_001122955.4(BSCL2):c.460T>G (p.Ser154Ala)	rs1590881633
NM_001122955.4(BSCL2):c.487-1G>A

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