ClinVar Miner

List of variants in gene combination GDAP1, LOC130000622 reported as likely benign for Charcot-Marie-Tooth disease

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_018972.4(GDAP1):c.117+12C>G rs202059380 0.00284
NM_018972.4(GDAP1):c.90T>C (p.His30=) rs555369956 0.00006
NM_018972.4(GDAP1):c.-19C>T rs371103821
NM_018972.4(GDAP1):c.75G>A (p.Lys25=) rs761730309

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