ClinVar Miner

List of variants reported as benign for Charcot-Marie-Tooth disease type 4A by Invitae

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_018972.4(GDAP1):c.507T>G (p.Ser169=) rs11554166 0.27295
NM_018972.4(GDAP1):c.485-20C>G rs73345392 0.04498
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.102C>G (p.Ser34=) rs7828201 0.00001
NC_000008.11:g.74350373_74350374del rs577136201
NM_018972.4(GDAP1):c.102= (p.Ser34=)

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