ClinVar Miner

List of variants reported as likely pathogenic for Charcot-Marie-Tooth disease axonal type 2S

Included ClinVar conditions (2):
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ClinVar version:
Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_002180.3(IGHMBP2):c.1488C>A (p.Cys496Ter) rs145226920 0.00016
NM_002180.3(IGHMBP2):c.1478C>T (p.Thr493Ile) rs780594709 0.00003
NM_002180.3(IGHMBP2):c.1909C>T (p.Arg637Cys) rs201563456 0.00003
NM_002180.3(IGHMBP2):c.1156T>C (p.Trp386Arg) rs759641927 0.00002
NM_002180.3(IGHMBP2):c.1693G>A (p.Asp565Asn) rs770111639 0.00002
NM_002180.3(IGHMBP2):c.1121T>C (p.Ile374Thr) rs1193634362 0.00001
NM_002180.3(IGHMBP2):c.1274G>A (p.Arg425His) rs769046350 0.00001
NM_002180.3(IGHMBP2):c.1808G>A (p.Arg603His) rs151079750 0.00001
NM_002180.3(IGHMBP2):c.181G>C (p.Gly61Arg) rs1057518943 0.00001
NM_002180.3(IGHMBP2):c.182G>A (p.Gly61Glu) rs1858185076 0.00001
NM_002180.3(IGHMBP2):c.86+1G>T rs1012702109 0.00001
NC_000011.9:g.(?_68682281)_(68682501_?)del
NC_000011.9:g.(?_68685184)_(68685371_?)dup
NM_002180.3(IGHMBP2):c.1060+1G>T rs1366461184
NM_002180.3(IGHMBP2):c.1235+1G>T rs2496034758
NM_002180.3(IGHMBP2):c.1235+2T>C
NM_002180.3(IGHMBP2):c.1235+894C>A rs1202430946
NM_002180.3(IGHMBP2):c.1236-1G>T rs1124336
NM_002180.3(IGHMBP2):c.1336C>T (p.Gln446Ter) rs372181708
NM_002180.3(IGHMBP2):c.1351T>C (p.Trp451Arg)
NM_002180.3(IGHMBP2):c.1398del (p.Val467fs) rs2496054182
NM_002180.3(IGHMBP2):c.1463T>C (p.Leu488Pro) rs2154008646
NM_002180.3(IGHMBP2):c.1523C>T (p.Ser508Leu) rs754465226
NM_002180.3(IGHMBP2):c.1591C>A (p.Pro531Thr) rs756985703
NM_002180.3(IGHMBP2):c.1632+1G>T rs2496062221
NM_002180.3(IGHMBP2):c.1633-2A>G rs1566445029
NM_002180.3(IGHMBP2):c.1694A>G (p.Asp565Gly)
NM_002180.3(IGHMBP2):c.1737C>A (p.Phe579Leu) rs368775789
NM_002180.3(IGHMBP2):c.1757-1G>A
NM_002180.3(IGHMBP2):c.1817G>A (p.Arg606His) rs1240319744
NM_002180.3(IGHMBP2):c.2098A>T (p.Lys700Ter)
NM_002180.3(IGHMBP2):c.2533C>T (p.Gln845Ter)
NM_002180.3(IGHMBP2):c.257-2A>G rs1566424655
NM_002180.3(IGHMBP2):c.2610del (p.Gly871fs)
NM_002180.3(IGHMBP2):c.449+1G>T rs797044802
NM_002180.3(IGHMBP2):c.449+2T>A rs2495950864
NM_002180.3(IGHMBP2):c.449+2del rs2495950893
NM_002180.3(IGHMBP2):c.638A>C (p.His213Pro) rs137852666
NM_002180.3(IGHMBP2):c.675del (p.Glu226fs) rs786205089
NM_002180.3(IGHMBP2):c.905_912+85del rs2495982495
NM_002180.3(IGHMBP2):c.983_987del (p.Lys328fs) rs746581714

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