ClinVar Miner

List of variants reported as uncertain significance for autosomal dominant Charcot-Marie-Tooth disease type 2K by MGZ Medical Genetics Center

Included ClinVar conditions (6):
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.191A>G (p.Asn64Ser) rs769632836 0.00001
NM_018972.4(GDAP1):c.194A>G (p.Glu65Gly) rs2131496131
NM_018972.4(GDAP1):c.904T>C (p.Ser302Pro)

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