ClinVar Miner

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

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_001122955.4(BSCL2):c.1126G>T (p.Glu376Ter) rs1945289474 0.00001
NM_001122955.4(BSCL2):c.1360C>T (p.Arg454Ter) rs138515091 0.00001
NM_001122955.4(BSCL2):c.455A>G (p.Asn152Ser) rs137852972 0.00001
NM_001122955.4(BSCL2):c.461C>T (p.Ser154Leu) rs137852973 0.00001
NM_001122955.4(BSCL2):c.517dup (p.Thr173fs) rs786205071 0.00001
NM_001122955.4(BSCL2):c.568_569insCA (p.Phe190fs) rs1244155207 0.00001
NM_001122955.4(BSCL2):c.757G>T (p.Glu253Ter) rs137852975 0.00001
NM_001122955.4(BSCL2):c.826G>C (p.Ala276Pro) rs137852971 0.00001
NM_001122955.4(BSCL2):c.985C>T (p.Arg329Ter) rs587777606 0.00001
NC_000011.10:g.(?_62702448)_(62702569_?)del
NM_001122955.4(BSCL2):c.1024_1025del (p.Asp342fs) rs2539145269
NM_001122955.4(BSCL2):c.1108_1109del (p.Asp370fs) rs1554982914
NM_001122955.4(BSCL2):c.1113del (p.Thr372fs) rs2134690008
NM_001122955.4(BSCL2):c.1159C>T (p.Gln387Ter) rs2134689565
NM_001122955.4(BSCL2):c.1361_1386del (p.Arg454fs) rs779154593
NM_001122955.4(BSCL2):c.371_374dup (p.His126fs) rs2539181714
NM_001122955.4(BSCL2):c.461C>G (p.Ser154Trp) rs137852973
NM_001122955.4(BSCL2):c.509_513del (p.Tyr170fs) rs587777608
NM_001122955.4(BSCL2):c.553C>T (p.Gln185Ter)
NM_001122955.4(BSCL2):c.567_568insGGCATGGACCCCAGTAACACCACCTAAATAGCAGCCCTAATCATCGCCAATTCTTCTCGTTCGGGAGGTGAGGTTGTCGACTGCAGAGAGTCGATCACGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGATTTGGGCATG (p.Phe190delinsGlyMetAspProSerAsnThrThrTer) rs2539154728
NM_001122955.4(BSCL2):c.567_568insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATTTGGGCATG (p.Phe190delinsGlyArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerTer) rs2539154728
NM_001122955.4(BSCL2):c.591C>A (p.Tyr197Ter) rs1402657239
NM_001122955.4(BSCL2):c.828del (p.Tyr277fs) rs758843908
NM_001122955.4(BSCL2):c.963G>A (p.Trp321Ter)
NM_001122955.4(BSCL2):c.974dup (p.Ile326fs) rs749890533

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