ClinVar Miner

List of variants reported as pathogenic for Charcot-Marie-Tooth disease axonal type 2K

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP
NM_018972.2(GDAP1):c.[347T>C];[62delA]
NM_018972.4(GDAP1):c.358C>T (p.Arg120Trp) rs104894078
NM_018972.4(GDAP1):c.368A>G (p.His123Arg) rs397515442
NM_018972.4(GDAP1):c.373C>T (p.Arg125Ter) rs745663149
NM_018972.4(GDAP1):c.467C>G (p.Ala156Gly) rs397515441
NM_018972.4(GDAP1):c.469A>C (p.Thr157Pro) rs104894079
NM_018972.4(GDAP1):c.487C>T (p.Gln163Ter) rs104894077
NM_018972.4(GDAP1):c.581C>G (p.Ser194Ter) rs104894075
NM_018972.4(GDAP1):c.652C>G (p.Gln218Glu) rs121908113
NM_018972.4(GDAP1):c.678A>T (p.Arg226Ser) rs267606842
NM_018972.4(GDAP1):c.692C>T (p.Pro231Leu) rs121908114
NM_018972.4(GDAP1):c.715C>T (p.Leu239Phe) rs104894080
NM_018972.4(GDAP1):c.719G>A (p.Cys240Tyr) rs121908115
NM_018972.4(GDAP1):c.821C>T (p.Pro274Leu) rs397515443

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