ClinVar Miner

List of variants reported as benign for Charcot-Marie-Tooth disease recessive intermediate A

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_018972.4(GDAP1):c.694+24C>T rs4463412 0.99998
NM_018972.4(GDAP1):c.*797A>G rs7007283 0.99395
NM_018972.4(GDAP1):c.117+28G>A rs4321999 0.99293
NM_018972.4(GDAP1):c.*1855A>G rs6472842 0.30274
NM_018972.4(GDAP1):c.507T>G (p.Ser169=) rs11554166 0.27295
NM_018972.4(GDAP1):c.*2214A>G rs10504580 0.26909
NM_018972.4(GDAP1):c.*1878G>T rs16938896 0.18293
NM_018972.4(GDAP1):c.*357A>G rs1135715 0.18199
NM_018972.4(GDAP1):c.*830C>G rs4737414 0.18198
NM_018972.4(GDAP1):c.*1173G>T rs72665430 0.06104
NM_018972.4(GDAP1):c.485-20C>G rs73345392 0.04498
NM_018972.4(GDAP1):c.*1647C>T rs115466662 0.02649
NM_018972.4(GDAP1):c.*561C>G rs80136809 0.00699
NM_018972.4(GDAP1):c.*2244T>C rs113763295 0.00513
NM_018972.4(GDAP1):c.*920C>G rs6982840 0.00506
NM_018972.4(GDAP1):c.*61C>T rs73345399 0.00483
NM_018972.4(GDAP1):c.117+12C>G rs202059380 0.00284
NM_018972.4(GDAP1):c.*2463A>G rs9643686 0.00052
NM_018972.4(GDAP1):c.*1429A>G rs78545774 0.00029
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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