ClinVar Miner

List of variants in gene IGHMBP2 studied for Autosomal dominant distal hereditary motor neuropathy

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Total variants: 36
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HGVS dbSNP
NM_002180.2(IGHMBP2):c.1000G>A (p.Glu334Lys)
NM_002180.2(IGHMBP2):c.1091T>C (p.Leu364Pro)
NM_002180.2(IGHMBP2):c.114del (p.Glu39fs)
NM_002180.2(IGHMBP2):c.1183T>C (p.Cys395Arg)
NM_002180.2(IGHMBP2):c.1218del (p.Thr407fs)
NM_002180.2(IGHMBP2):c.1263C>A (p.Ser421Arg)
NM_002180.2(IGHMBP2):c.1336C>T (p.Gln446Ter) rs372181708
NM_002180.2(IGHMBP2):c.1478C>T (p.Thr493Ile) rs780594709
NM_002180.2(IGHMBP2):c.1519C>T (p.Gln507Ter)
NM_002180.2(IGHMBP2):c.1610T>A (p.Val537Glu)
NM_002180.2(IGHMBP2):c.1615_1623del (p.Ser539_Tyr541del)
NM_002180.2(IGHMBP2):c.1682T>C (p.Ile561Thr)
NM_002180.2(IGHMBP2):c.1707C>T (p.Gly569=)
NM_002180.2(IGHMBP2):c.1714_1716del (p.Lys572del)
NM_002180.2(IGHMBP2):c.1730T>C (p.Leu577Pro) rs1483165002
NM_002180.2(IGHMBP2):c.1794C>A (p.Asn598Lys)
NM_002180.2(IGHMBP2):c.1817G>A (p.Arg606His)
NM_002180.2(IGHMBP2):c.1826C>A (p.Ala609Glu) rs776775995
NM_002180.2(IGHMBP2):c.2083A>T (p.Lys695Ter)
NM_002180.2(IGHMBP2):c.2362C>T (p.Arg788Ter)
NM_002180.2(IGHMBP2):c.2436del (p.Ala813fs)
NM_002180.2(IGHMBP2):c.2598_2601del (p.Lys868fs)
NM_002180.2(IGHMBP2):c.2611+1G>T rs786205090
NM_002180.2(IGHMBP2):c.2636C>A (p.Thr879Lys) rs17612126
NM_002180.2(IGHMBP2):c.388C>T (p.Arg130Ter)
NM_002180.2(IGHMBP2):c.439C>T (p.Arg147Ter) rs1324667543
NM_002180.2(IGHMBP2):c.449+1G>T rs797044802
NM_002180.2(IGHMBP2):c.464T>A (p.Leu155Gln)
NM_002180.2(IGHMBP2):c.575T>C (p.Leu192Pro)
NM_002180.2(IGHMBP2):c.587A>G (p.Gln196Arg)
NM_002180.2(IGHMBP2):c.595G>C (p.Ala199Pro)
NM_002180.2(IGHMBP2):c.676G>T (p.Glu226Ter)
NM_002180.2(IGHMBP2):c.711+1G>C
NM_002180.2(IGHMBP2):c.780del (p.Gln260fs)
NM_002180.2(IGHMBP2):c.94C>T (p.Gln32Ter)
NM_002180.2(IGHMBP2):c.978_982AAGAA[1] (p.Lys328fs) rs746581714

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