ClinVar Miner

List of variants reported as benign for Charcot-Marie-Tooth disease type 4 by Illumina Clinical Services Laboratory,Illumina

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Total variants: 54
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HGVS dbSNP
NM_001135242.2(NDRG1):c.64-6T>C rs2272653
NM_001243571.2(MTMR2):c.915C>T (p.Thr305=) rs566204
NM_006096.3(NDRG1):c.*691G>A rs1049694
NM_006096.3(NDRG1):c.*956T>C rs1049697
NM_006096.3(NDRG1):c.755+10T>C rs2233336
NM_014845.5(FIG4):c.*120C>T rs1127775
NM_014845.5(FIG4):c.1948+3A>G rs10499054
NM_014845.5(FIG4):c.1961T>C (p.Val654Ala) rs9885672
NM_014845.5(FIG4):c.2559G>A (p.Ser853=) rs1127771
NM_016156.5(MTMR2):c.*1226_*1228del rs142663762
NM_016156.5(MTMR2):c.*1419G>A rs496305
NM_016156.5(MTMR2):c.*1568C>T rs596277
NM_016156.5(MTMR2):c.*1934T>C rs525404
NM_016156.5(MTMR2):c.*549G>A rs611020
NM_016156.5(MTMR2):c.186+5624TTTTA[6] rs112378876
NM_016156.5(MTMR2):c.8A>C (p.Lys3Thr) rs3824874
NM_020956.2(PRX):c.*2850T>C rs268671
NM_020956.2(PRX):c.*2860T>C rs268672
NM_020956.2(PRX):c.*2968A>G rs268673
NM_020956.2(PRX):c.*3599G>A rs268674
NM_020956.2(PRX):c.*676G>A rs4803335
NM_024577.3(SH3TC2):c.*11390A>G rs3213854
NM_024577.3(SH3TC2):c.*15823T>C rs4562031
NM_024577.3(SH3TC2):c.*16020A>C rs4543254
NM_024577.3(SH3TC2):c.*16950T>C rs10040798
NM_024577.3(SH3TC2):c.*17703A>G rs4235739
NM_024577.3(SH3TC2):c.*18554G>T rs10040598
NM_024577.3(SH3TC2):c.*19564dup rs5872105
NM_024577.3(SH3TC2):c.*19919T>C rs2217638
NM_024577.3(SH3TC2):c.*3077C>T rs1045942
NM_024577.3(SH3TC2):c.*3136G>A rs1019927
NM_024577.3(SH3TC2):c.*5490G>A rs1432795
NM_024577.3(SH3TC2):c.1587T>G (p.Arg529=) rs1432794
NM_030962.3(SBF2):c.*1144A>G rs3751001
NM_030962.3(SBF2):c.*1364C>T rs10118
NM_030962.3(SBF2):c.*1515G>A rs1045634
NM_030962.3(SBF2):c.*40A>C rs3751000
NM_030962.3(SBF2):c.*514C>T rs3829252
NM_030962.3(SBF2):c.4571-6C>T rs2645029
NM_030962.3(SBF2):c.4933-15T>C rs75447733
NM_139241.3(FGD4):c.*1133A>C rs10844268
NM_139241.3(FGD4):c.*1454A>G rs7964947
NM_139241.3(FGD4):c.*1492T>G rs7980205
NM_139241.3(FGD4):c.*1954A>G rs1239829
NM_139241.3(FGD4):c.*2928_*2931del rs549931906
NM_139241.3(FGD4):c.*3148del rs797002948
NM_139241.3(FGD4):c.*3770G>T rs11052123
NM_139241.3(FGD4):c.*4369dup rs35874340
NM_139241.3(FGD4):c.*4438A>G rs11052124
NM_139241.3(FGD4):c.*4991A>G rs1239830
NM_139241.3(FGD4):c.*5198G>A rs1133509
NM_139241.3(FGD4):c.1305G>A (p.Arg435=) rs10844253
NM_139241.3(FGD4):c.1518G>A (p.Ala506=) rs11052110
NM_139241.3(FGD4):c.435C>T (p.Asp145=) rs904582

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