ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease recessive intermediate A by Mendelics

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_018972.4(GDAP1):c.355C>A (p.Pro119Thr) rs936681187 0.00001
NM_018972.4(GDAP1):c.674GAA[1] (p.Arg226del) rs1586806238
NM_018972.4(GDAP1):c.694+1G>A rs1183978180

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