ClinVar Miner

List of variants in gene NDRG1 studied for Charcot-Marie-Tooth disease

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Total variants: 51
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HGVS dbSNP
NM_001135242.2(NDRG1):c.64-6T>C rs2272653
NM_006096.3(NDRG1):c.1053_1082del (p.340_349TRSRSHTSEG[2]) rs751274009
NM_006096.3(NDRG1):c.1101C>T (p.Ser367=) rs201959970
NM_006096.3(NDRG1):c.1109C>G (p.Ala370Gly) rs367925853
NM_006096.3(NDRG1):c.1109C>T (p.Ala370Val) rs367925853
NM_006096.3(NDRG1):c.1134G>A (p.Ser378=) rs750369546
NM_006096.3(NDRG1):c.122A>G (p.His41Arg) rs2233318
NM_006096.3(NDRG1):c.199A>G (p.Met67Val) rs2233319
NM_006096.3(NDRG1):c.306C>T (p.Gly102=) rs2233322
NM_006096.3(NDRG1):c.31G>A (p.Ala11Thr) rs145871479
NM_006096.3(NDRG1):c.331A>C (p.Met111Leu) rs2233328
NM_006096.3(NDRG1):c.393G>A (p.Leu131=) rs149767690
NM_006096.3(NDRG1):c.538-1G>A rs11575976
NM_006096.3(NDRG1):c.63+6T>C rs199597649
NM_006096.3(NDRG1):c.664G>A (p.Gly222Ser) rs199995009
NM_006096.3(NDRG1):c.681dup (p.Ile228fs) rs879254290
NM_006096.3(NDRG1):c.686A>G (p.Asn229Ser) rs137993172
NM_006096.3(NDRG1):c.755+10T>C rs2233336
NM_006096.3(NDRG1):c.756-5C>T rs2227262
NM_006096.3(NDRG1):c.789G>A (p.Ser263=) rs61755062
NM_006096.3(NDRG1):c.861G>A (p.Ala287=) rs150101908
NM_006096.3(NDRG1):c.879G>A (p.Pro293=) rs2233340
NM_006096.3(NDRG1):c.892-5C>T rs2233346
NM_006096.3(NDRG1):c.944-13C>T rs753312340
NM_006096.3(NDRG1):c.973C>A (p.Arg325=) rs141078746
NM_006096.4(NDRG1):c.-18-2_-18-1del
NM_006096.4(NDRG1):c.100-3C>T
NM_006096.4(NDRG1):c.1053A>C (p.Arg351=)
NM_006096.4(NDRG1):c.1062C>G (p.Ser354=)
NM_006096.4(NDRG1):c.1081C>G (p.Arg361Gly)
NM_006096.4(NDRG1):c.12G>T (p.Glu4Asp)
NM_006096.4(NDRG1):c.206-17T>G
NM_006096.4(NDRG1):c.389+13G>C
NM_006096.4(NDRG1):c.403A>G (p.Ile135Val) rs202118022
NM_006096.4(NDRG1):c.448G>T (p.Ala150Ser) rs150796527
NM_006096.4(NDRG1):c.488T>C (p.Ile163Thr)
NM_006096.4(NDRG1):c.4T>G (p.Ser2Ala)
NM_006096.4(NDRG1):c.594+9C>T rs373172944
NM_006096.4(NDRG1):c.634C>T (p.Arg212Cys)
NM_006096.4(NDRG1):c.635G>A (p.Arg212His)
NM_006096.4(NDRG1):c.637C>A (p.Gln213Lys)
NM_006096.4(NDRG1):c.699-16C>G
NM_006096.4(NDRG1):c.703C>T rs772268356
NM_006096.4(NDRG1):c.706G>A (p.Asp236Asn)
NM_006096.4(NDRG1):c.72C>T (p.Thr24=)
NM_006096.4(NDRG1):c.756-13T>C
NM_006096.4(NDRG1):c.756-5_756-4delinsTG
NM_006096.4(NDRG1):c.766C>T (p.Leu256=)
NM_006096.4(NDRG1):c.856-9C>T rs772996128
NM_006096.4(NDRG1):c.892-11G>A
NM_006096.4(NDRG1):c.895G>A (p.Ala299Thr)

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