ClinVar Miner

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

Included ClinVar conditions (196):
Minimum submission review status: Collection method:
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Gene type:
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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