ClinVar Miner

List of variants in gene IGHMBP2 reported as uncertain significance for Charcot-Marie-Tooth disease

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Total variants: 32
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HGVS dbSNP
NC_000011.10:g.68911488C>T
NC_000011.10:g.68914853G>A
NC_000011.10:g.68929184T>G
NC_000011.10:g.68930433G>A
NC_000011.10:g.68938235G>C
NC_000011.10:g.68938343del
NC_000011.10:g.68938347T>C
NC_000011.10:g.68939538A>G
NM_002180.2(IGHMBP2):c.1121T>C (p.Ile374Thr) rs1193634362
NM_002180.2(IGHMBP2):c.1236-6G>A rs201538340
NM_002180.2(IGHMBP2):c.1273C>T (p.Arg425Cys)
NM_002180.2(IGHMBP2):c.1523C>T (p.Ser508Leu) rs754465226
NM_002180.2(IGHMBP2):c.1591C>A (p.Pro531Thr) rs756985703
NM_002180.2(IGHMBP2):c.1708C>T (p.Arg570Ter) rs1000091588
NM_002180.2(IGHMBP2):c.1714_1716del (p.Lys572del)
NM_002180.2(IGHMBP2):c.1813C>T (p.Arg605Ter) rs991227431
NM_002180.2(IGHMBP2):c.2362C>T (p.Arg788Ter)
NM_002180.2(IGHMBP2):c.238A>G (p.Ser80Gly)
NM_002180.2(IGHMBP2):c.2561A>G (p.Gln854Arg)
NM_002180.2(IGHMBP2):c.2713G>A (p.Gly905Ser)
NM_002180.2(IGHMBP2):c.2770C>T (p.His924Tyr)
NM_002180.2(IGHMBP2):c.277G>A (p.Asp93Asn) rs200897747
NM_002180.2(IGHMBP2):c.2784+1G>T rs797044803
NM_002180.2(IGHMBP2):c.2909_2910AG[1] (p.Arg971fs) rs724159994
NM_002180.2(IGHMBP2):c.2970_2982del (p.Glu990fs)
NM_002180.2(IGHMBP2):c.604T>G (p.Phe202Val) rs724159958
NM_002180.2(IGHMBP2):c.734A>G (p.Asn245Ser) rs1555243999
NM_002180.2(IGHMBP2):c.83G>A (p.Arg28His) rs892885630
NM_002180.2(IGHMBP2):c.958C>T (p.Arg320Ter) rs773690764
NM_002180.2(IGHMBP2):c.978_982AAGAA[1] (p.Lys328fs) rs746581714
NM_002180.2(IGHMBP2):c.983_984del (p.Lys328fs)
NM_002180.3(IGHMBP2):c.1463del (p.Leu488fs)

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