ClinVar Miner

List of variants reported as likely benign for Charcot-Marie-Tooth disease type 4 by Illumina Laboratory Services, Illumina

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001370298.3(FGD4):c.*3920del rs144034303 0.09005
NM_001370298.3(FGD4):c.167-62037C>A rs79370524
NM_024577.4(SH3TC2):c.*12108_*12110del rs35182601
NM_024577.4(SH3TC2):c.*16856CA[22] rs71957589
NM_024577.4(SH3TC2):c.*21474AAAC[2] rs146796490
NM_024577.4(SH3TC2):c.*22553dup rs55932017
NM_024577.4(SH3TC2):c.*858_*861del rs5872107
NM_024577.4(SH3TC2):c.*8622del rs562125931
NM_030962.4(SBF2):c.2611-35AATC[4] rs202029370

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