ClinVar Miner

List of variants reported as likely benign for Charcot-Marie-Tooth disease type 4H

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_001370298.3(FGD4):c.1954-8T>C rs115061722 0.01466
NM_001370298.3(FGD4):c.1971C>T (p.Ile657=) rs61748364 0.00526
NM_001370298.3(FGD4):c.*3676A>G rs189489067 0.00441
NM_001370298.3(FGD4):c.*3367G>T rs188648275 0.00419
NM_001370298.3(FGD4):c.*2103A>G rs55963204 0.00370
NM_001370298.3(FGD4):c.*4497G>A rs367545740 0.00303
NM_001370298.3(FGD4):c.1296C>T (p.Phe432=) rs151083690 0.00214
NM_001370298.3(FGD4):c.647C>T (p.Thr216Ile) rs145115430 0.00213
NM_001370298.3(FGD4):c.*167G>A rs138847108 0.00176
NM_001370298.3(FGD4):c.*4585T>A rs140048835 0.00175
NM_001370298.3(FGD4):c.*4028A>G rs75608969 0.00167
NM_001370298.3(FGD4):c.666A>T (p.Ala222=) rs139357821 0.00152
NM_001370298.3(FGD4):c.*2638A>G rs193167910 0.00115
NM_001370298.3(FGD4):c.*4831C>T rs145433607 0.00044
NM_001370298.3(FGD4):c.*5244G>A rs186014657 0.00033
NM_001370298.3(FGD4):c.890G>A (p.Gly297Asp) rs201826412 0.00024
NM_001370298.3(FGD4):c.1404+5T>C rs373712001 0.00001
NM_001370298.3(FGD4):c.*4014C>A rs187562428
NM_001370298.3(FGD4):c.1281G>A (p.Gln427=)
NM_001370298.3(FGD4):c.1543+17dup rs548627916
NM_001370298.3(FGD4):c.2122C>A (p.Pro708Thr) rs144693221
NM_001370298.3(FGD4):c.504-20C>G rs1592293275

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