ClinVar Miner

List of variants reported as likely pathogenic for Charcot-Marie-Tooth disease by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (172):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_007289.4(MME):c.1497+1G>C rs1395068713 0.00002
NM_007289.4(MME):c.1914+1G>A rs1003705057 0.00002
NM_002180.3(IGHMBP2):c.1808G>A (p.Arg603His) rs151079750 0.00001
NM_014845.6(FIG4):c.290-2A>T rs587777715 0.00001
NM_018972.4(GDAP1):c.355C>A (p.Pro119Thr) rs936681187 0.00001
NM_030962.4(SBF2):c.3653-1G>A rs145183196 0.00001
NM_002180.3(IGHMBP2):c.1737C>A (p.Phe579Leu) rs368775789
NM_002972.4(SBF1):c.2154_2155del (p.Asp719fs) rs1569512576
NM_007289.4(MME):c.1400dup (p.Arg468fs) rs751149568
NM_018972.4(GDAP1):c.118-1G>A
NM_018972.4(GDAP1):c.533A>G (p.Asn178Ser) rs1586804849
NM_021076.4(NEFH):c.41dup (p.Phe15fs)

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