ClinVar Miner

List of variants reported as pathogenic for Charcot-Marie-Tooth disease recessive intermediate a by OMIM

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP
GDAP1, IVS4DS, G-A, +1
NM_018972.4(GDAP1):c.349dup (p.Tyr117fs) rs1586803063
NM_018972.4(GDAP1):c.482G>A (p.Arg161His) rs104894076
NM_018972.4(GDAP1):c.581C>G (p.Ser194Ter) rs104894075
NM_018972.4(GDAP1):c.715C>T (p.Leu239Phe) rs104894080
NM_018972.4(GDAP1):c.844C>T (p.Arg282Cys) rs28937906
NM_018972.4(GDAP1):c.92G>A (p.Trp31Ter) rs121908112
NM_018972.4(GDAP1):c.980G>A (p.Gly327Asp) rs397515432

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