List of variants in gene combination BSCL2, HNRNPUL2-BSCL2 reported as benign for Charcot-Marie-Tooth disease type 2

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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: 13

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HGVS	dbSNP	gnomAD frequency
NM_001122955.4(BSCL2):c.486+11G>T	rs72929434	0.16805
NM_001122955.4(BSCL2):c.1137A>G (p.Glu379=)	rs6856	0.16571
NM_001122955.4(BSCL2):c.765+15C>T	rs79586077	0.03596
NM_001122955.4(BSCL2):c.1234+20G>A	rs113229350	0.00638
NM_001122955.4(BSCL2):c.1280T>C (p.Leu427Pro)	rs145649423	0.00301
NM_001122955.4(BSCL2):c.845C>T (p.Ala282Val)	rs185341934	0.00096
NM_001122955.4(BSCL2):c.487-14G>A	rs189771133	0.00080
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.448G>A (p.Val150Ile)	rs149412531	0.00013
NM_001122955.4(BSCL2):c.939C>T (p.Ile313=)	rs200300686	0.00010
NM_001122955.4(BSCL2):c.487-20A>T	rs115756273
NM_001122955.4(BSCL2):c.765+16G>A	rs183210574

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