ClinVar Miner

List of variants in gene GDAP1 reported as likely pathogenic for Charcot-Marie-Tooth disease

Included ClinVar conditions (137):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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NM_018972.4(GDAP1):c.112C>T (p.Gln38Ter) rs761035569
NM_018972.4(GDAP1):c.272_274delinsTTT (p.Thr91_Gln92delinsIleTer)
NM_018972.4(GDAP1):c.355C>A (p.Pro119Thr) rs936681187
NM_018972.4(GDAP1):c.376G>A (p.Glu126Lys) rs879254005
NM_018972.4(GDAP1):c.458C>T (p.Pro153Leu) rs538412810
NM_018972.4(GDAP1):c.487C>T (p.Gln163Ter) rs104894077
NM_018972.4(GDAP1):c.692C>T (p.Pro231Leu) rs121908114
NM_018972.4(GDAP1):c.811G>A (p.Gly271Arg) rs775622226
NM_018972.4(GDAP1):c.917C>T (p.Pro306Leu) rs1586807529

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