List of variants in gene SBF2 reported as likely pathogenic for Charcot-Marie-Tooth disease

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: 15

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HGVS	dbSNP	gnomAD frequency
NM_030962.4(SBF2):c.1024C>T (p.Arg342Ter)	rs1565106242	0.00001
NM_030962.4(SBF2):c.161G>A (p.Trp54Ter)	rs1166873755	0.00001
NM_030962.4(SBF2):c.3653-1G>A	rs145183196	0.00001
NC_000011.9:g.(?_9917470)_(9917578_?)del
NM_030962.4(SBF2):c.1054-15_1054-2del	rs2496112378
NM_030962.4(SBF2):c.1297-2A>G	rs752649372
NM_030962.4(SBF2):c.1395+1G>A	rs1947335024
NM_030962.4(SBF2):c.1601-2A>G	rs113702075
NM_030962.4(SBF2):c.340_341dup (p.Val115fs)
NM_030962.4(SBF2):c.3652+1G>C	rs1399471736
NM_030962.4(SBF2):c.3979-2A>G	rs2494620013
NM_030962.4(SBF2):c.4331_4332del (p.Lys1444fs)	rs1853955279
NM_030962.4(SBF2):c.4444-1G>C
NM_030962.4(SBF2):c.56-1G>A	rs2135330973
NM_030962.4(SBF2):c.815dup (p.Ile273fs)	rs2496176112

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