List of variants in gene combination BSCL2, HNRNPUL2-BSCL2 reported as likely benign by GeneDx

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: 38

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HGVS	dbSNP	gnomAD frequency
NM_001122955.4(BSCL2):c.1006-50T>G	rs72929419	0.02144
NM_001122955.4(BSCL2):c.766-79G>T	rs74388071	0.01789
NM_001122955.4(BSCL2):c.404+207A>T	rs868827991	0.01361
NM_001122955.4(BSCL2):c.88-662C>A	rs117597269	0.01291
NM_001122955.4(BSCL2):c.630+64G>T	rs73483955	0.01231
NM_001122955.4(BSCL2):c.487-34A>T	rs181164682	0.01099
NM_001122955.4(BSCL2):c.486+123G>A	rs142930529	0.00938
NM_001122955.4(BSCL2):c.486+182C>T	rs191422290	0.00817
NM_001122955.4(BSCL2):c.88-444G>C	rs77741515	0.00443
NM_001122955.4(BSCL2):c.88-142C>G	rs191835830	0.00352
NM_001122955.4(BSCL2):c.124C>T (p.Arg42Cys)	rs201493373	0.00061
NM_001122955.4(BSCL2):c.615C>T (p.Ser205=)	rs140208002	0.00019
NM_001122955.4(BSCL2):c.861C>T (p.Leu287=)	rs370926100	0.00016
NM_001122955.4(BSCL2):c.133G>A (p.Gly45Ser)	rs3763853	0.00014
NM_001122955.4(BSCL2):c.1234+7G>A	rs200631909	0.00011
NM_001122955.4(BSCL2):c.588C>T (p.Cys196=)	rs369806785	0.00011
NM_001122955.4(BSCL2):c.939C>T (p.Ile313=)	rs200300686	0.00010
NM_001122955.4(BSCL2):c.88-19C>T	rs760935362	0.00008
NM_001122955.4(BSCL2):c.432A>T (p.Ser144=)	rs144774892	0.00006
NM_001122955.4(BSCL2):c.1017A>G (p.Arg339=)	rs147902831	0.00004
NM_001122955.4(BSCL2):c.621T>C (p.Ser207=)	rs777598096	0.00004
NM_001122955.4(BSCL2):c.870G>C (p.Leu290=)	rs767104988	0.00004
NM_001122955.4(BSCL2):c.130G>C (p.Gly44Arg)	rs900971126	0.00003
NM_001122955.4(BSCL2):c.88-588T>C	rs970321804	0.00003
NM_001122955.4(BSCL2):c.404+15C>G	rs200598473	0.00002
NM_001122955.4(BSCL2):c.1234+19C>T	rs748453195	0.00001
NM_001122955.4(BSCL2):c.166G>A (p.Gly56Arg)	rs1226106958	0.00001
NM_001122955.4(BSCL2):c.630+11G>T	rs779498581	0.00001
NM_001122955.4(BSCL2):c.660C>T (p.Leu220=)	rs950978890	0.00001
NM_001122955.4(BSCL2):c.765G>A (p.Ser255=)	rs774120735	0.00001
NM_001122955.4(BSCL2):c.1005+4G>T	rs367731146
NM_001122955.4(BSCL2):c.1006-8C>T	rs1057521013
NM_001122955.4(BSCL2):c.306C>T (p.Ile102=)	rs1554985612
NM_001122955.4(BSCL2):c.405-205_405-202del	rs113202502
NM_001122955.4(BSCL2):c.810C>T (p.Arg270=)	rs998498207
NM_001122955.4(BSCL2):c.88-613G>A	rs112877243
NM_001122955.4(BSCL2):c.88-663G>A	rs117862461
NM_001122955.4(BSCL2):c.88-673T>C

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