ClinVar Miner

List of variants in gene NDRG1 reported as pathogenic for Charcot-Marie-Tooth disease type 4

Included ClinVar conditions (30):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_006096.4(NDRG1):c.16C>T (p.Gln6Ter) rs1048918488 0.00001
NM_006096.4(NDRG1):c.205+1G>A rs1060503092 0.00001
NM_006096.4(NDRG1):c.442C>T (p.Arg148Ter) rs119483085 0.00001
NC_000008.10:g.(?_134260948)_(134262796_?)del
NC_000008.10:g.(?_134292465)_(134296564_?)del
NM_006096.4(NDRG1):c.205+1G>C
NM_006096.4(NDRG1):c.205+1G>T rs1060503092
NM_006096.4(NDRG1):c.205+2T>A rs1586451553
NM_006096.4(NDRG1):c.237C>A (p.Tyr79Ter) rs199928197
NM_006096.4(NDRG1):c.327-1G>A rs2130727581
NM_006096.4(NDRG1):c.330C>G (p.Tyr110Ter)
NM_006096.4(NDRG1):c.368del (p.Pro123fs) rs2130727371
NM_006096.4(NDRG1):c.389+92_594+1717dup
NM_006096.4(NDRG1):c.40A>T (p.Lys14Ter)
NM_006096.4(NDRG1):c.510_511insTGTGTGGA (p.Gly171fs)
NM_006096.4(NDRG1):c.518_521dup (p.Trp175fs) rs2130719686
NM_006096.4(NDRG1):c.524G>A (p.Trp175Ter)
NM_006096.4(NDRG1):c.525G>A (p.Trp175Ter)
NM_006096.4(NDRG1):c.537+2_537+10del rs2130719557
NM_006096.4(NDRG1):c.538-1G>A rs11575976
NM_006096.4(NDRG1):c.604C>T (p.Gln202Ter) rs1855957969
NM_006096.4(NDRG1):c.641del (p.His214fs)
NM_006096.4(NDRG1):c.944-1G>T rs1588216753

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