ClinVar Miner

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

Included ClinVar conditions (1):
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Minimum conflict level:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_006096.4(NDRG1):c.389+82G>T rs2233329 0.03173
NM_006096.4(NDRG1):c.*1622T>G rs7825439 0.02986
NM_006096.4(NDRG1):c.*264C>G rs73711834 0.02269
NM_006096.4(NDRG1):c.*653T>C rs147301529 0.01388
NM_006096.4(NDRG1):c.306C>T (p.Gly102=) rs2233322 0.01251
NM_006096.4(NDRG1):c.507G>A (p.Ala169=) rs2233331 0.01225
NM_006096.4(NDRG1):c.-18-2_-18-1del rs371927413 0.00490
NM_006096.4(NDRG1):c.879G>A (p.Pro293=) rs2233340 0.00458
NM_006096.4(NDRG1):c.331A>C (p.Met111Leu) rs2233328 0.00201
NM_006096.4(NDRG1):c.789G>A (p.Ser263=) rs61755062 0.00102
NM_006096.4(NDRG1):c.*1473G>A rs187466317 0.00026
NM_006096.4(NDRG1):c.804C>T (p.Ala268=) rs754704497 0.00006
NM_006096.4(NDRG1):c.*377G>A rs377385607 0.00003
NM_006096.4(NDRG1):c.591G>A (p.Gly197=) rs377257830 0.00001
NM_006096.4(NDRG1):c.699-16C>G rs567104964 0.00001
NM_006096.4(NDRG1):c.855+8G>A rs776826543 0.00001
NM_006096.4(NDRG1):c.1053_1082del (p.340TRSRSHTSEG[2]) rs751274009
NM_006096.4(NDRG1):c.1077_1106dup (p.340TRSRSHTSEG[4]) rs1554747463
NM_006096.4(NDRG1):c.1092G>A (p.Ser364=) rs578199680

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