ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease type 4D by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Included ClinVar conditions (1):
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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_006096.4(NDRG1):c.892-5C>T rs2233346 0.01290
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.199A>G (p.Met67Val) rs2233319 0.00829
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.31G>A (p.Ala11Thr) rs145871479 0.00140
NM_006096.4(NDRG1):c.789G>A (p.Ser263=) rs61755062 0.00102
NM_006096.4(NDRG1):c.1027C>T (p.Arg343Cys) rs146613168 0.00019
NM_006096.4(NDRG1):c.583C>T (p.Leu195Phe) rs1295024326 0.00001
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.1053_1082del (p.340TRSRSHTSEG[2]) rs751274009

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