List of variants in gene combination BSCL2, HNRNPUL2-BSCL2 reported as likely benign for neuronopathy, distal hereditary motor, type 5C

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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: 12

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HGVS	dbSNP	gnomAD frequency
NM_001122955.4(BSCL2):c.1234+20G>A	rs113229350	0.00638
NM_001122955.4(BSCL2):c.1280T>C (p.Leu427Pro)	rs145649423	0.00296
NM_001122955.4(BSCL2):c.1031C>T (p.Ser344Phe)	rs140676897	0.00043
NM_001122955.4(BSCL2):c.299G>T (p.Cys100Phe)	rs147314661	0.00023
NM_001122955.4(BSCL2):c.624G>A (p.Ser208=)	rs138532996	0.00023
NM_001122955.4(BSCL2):c.133G>A (p.Gly45Ser)	rs3763853	0.00014
NM_001122955.4(BSCL2):c.88-19C>T	rs760935362	0.00008
NM_001122955.4(BSCL2):c.487-20A>T	rs115756273	0.00007
NM_001122955.4(BSCL2):c.1235-6G>A	rs762484263	0.00003
NM_001122955.4(BSCL2):c.1269G>A (p.Thr423=)	rs748736063	0.00001
NM_001122955.4(BSCL2):c.933C>T (p.Ser311=)	rs748195771	0.00001
NM_001122955.4(BSCL2):c.405-21TCC[2]	rs768556778

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