ClinVar Miner

List of variants reported as pathogenic for Charcot-Marie-Tooth disease type 4 by Baylor Genetics

Included ClinVar conditions (30):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr) rs121908287 0.00117
NM_181882.3(PRX):c.2857C>T (p.Arg953Ter) rs104894714 0.00003
NM_018972.4(GDAP1):c.581C>G (p.Ser194Ter) rs104894075 0.00002
GRCh37/hg19 1q23.3(chr1:161255241-161276497)
NM_006096.4(NDRG1):c.944-1G>T rs1588216753
NM_016156.6(MTMR2):c.1593+1G>A rs1590970875
NM_016156.6(MTMR2):c.826G>T (p.Glu276Ter) rs121434403
NM_024577.4(SH3TC2):c.3013G>T (p.Glu1005Ter) rs147895061
NM_024577.4(SH3TC2):c.383T>G (p.Leu128Ter) rs1754425628

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