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

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: 20

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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.405-11A>G	rs1434874435	0.00001
NM_001122955.4(BSCL2):c.461C>T (p.Ser154Leu)	rs137852973	0.00001
NM_001122955.4(BSCL2):c.486+1G>A	rs1011200048	0.00001
NM_001122955.4(BSCL2):c.737_738insCCG (p.Glu246delinsAspArg)	rs747297291	0.00001
NM_001122955.4(BSCL2):c.1006-1G>A	rs777430457
NM_001122955.4(BSCL2):c.1006-2A>C
NM_001122955.4(BSCL2):c.1006-2A>G	rs879254029
NM_001122955.4(BSCL2):c.1076dup (p.Pro359_Glu360insTer)
NM_001122955.4(BSCL2):c.1154-1del	rs1945285043
NM_001122955.4(BSCL2):c.1235-2A>C	rs1565142553
NM_001122955.4(BSCL2):c.1317C>A (p.Val439=)	rs1057516190
NM_001122955.4(BSCL2):c.446C>G (p.Pro149Arg)
NM_001122955.4(BSCL2):c.460T>G (p.Ser154Ala)	rs1590881633
NM_001122955.4(BSCL2):c.478C>A (p.Arg160Ser)	rs772536764
NM_001122955.4(BSCL2):c.486+1G>T	rs1011200048
NM_001122955.4(BSCL2):c.487-1G>A
NM_001122955.4(BSCL2):c.844_854del (p.Ala282fs)	rs1064797076
NM_001122955.4(BSCL2):c.862dup (p.Arg288fs)	rs2134695130
NM_001122955.4(BSCL2):c.974del (p.Gly325fs)	rs749890533

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