ClinVar Miner

List of variants reported as uncertain significance for Charcot-Marie-Tooth disease type 4 by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Included ClinVar conditions (30):
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ClinVar version:
Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_002972.4(SBF1):c.2393A>G (p.Asn798Ser) rs199705951 0.00206
NM_001370298.3(FGD4):c.1777C>A (p.Pro593Thr) rs138160928 0.00168
NM_006096.4(NDRG1):c.31G>A (p.Ala11Thr) rs145871479 0.00140
NM_002972.4(SBF1):c.2785G>A (p.Val929Ile) rs370463792 0.00125
NM_002972.4(SBF1):c.2255C>T (p.Thr752Met) rs188976869 0.00122
NM_002972.4(SBF1):c.3922C>T (p.Arg1308Trp) rs201399007 0.00091
NM_002972.4(SBF1):c.3940A>G (p.Ser1314Gly) rs200718883 0.00088
NM_002972.4(SBF1):c.4965G>C (p.Gln1655His) rs147869659 0.00084
NM_002972.4(SBF1):c.55G>C (p.Gly19Arg) rs765666942 0.00075
NM_002972.4(SBF1):c.3157C>T (p.Arg1053Trp) rs202156491 0.00058
NM_030962.4(SBF2):c.3290C>A (p.Thr1097Asn) rs141894081 0.00054
NM_002972.4(SBF1):c.5471G>A (p.Arg1824His) rs202149945 0.00036
NM_002972.4(SBF1):c.4517C>T (p.Thr1506Ile) rs374199797 0.00031
NM_002972.4(SBF1):c.4639C>T (p.Arg1547Trp) rs370182117 0.00027
NM_030962.4(SBF2):c.3433A>G (p.Arg1145Gly) rs145647154 0.00023
NM_030962.4(SBF2):c.3831C>G (p.Ile1277Met) rs139522696 0.00020
NM_006096.4(NDRG1):c.1027C>T (p.Arg343Cys) rs146613168 0.00019
NM_030962.4(SBF2):c.1967G>C (p.Cys656Ser) rs138120231 0.00019
NM_002972.4(SBF1):c.2195G>A (p.Arg732His) rs374201600 0.00014
NM_030962.4(SBF2):c.2197C>G (p.Gln733Glu) rs145199888 0.00014
NM_002972.4(SBF1):c.4724C>T (p.Pro1575Leu) rs199779197 0.00012
NM_002972.4(SBF1):c.3251C>T (p.Pro1084Leu) rs749516637 0.00011
NM_016156.6(MTMR2):c.1741A>G (p.Ile581Val) rs149476960 0.00010
NM_016156.6(MTMR2):c.894A>T (p.Glu298Asp) rs200898934 0.00007
NM_030962.4(SBF2):c.3574A>G (p.Thr1192Ala) rs761285334 0.00007
NM_001370298.3(FGD4):c.792A>G (p.Ile264Met) rs774466701 0.00006
NM_001370298.3(FGD4):c.980T>A (p.Leu327Gln) rs144980336 0.00006
NM_002972.4(SBF1):c.2737G>A (p.Ala913Thr) rs755038470 0.00003
NM_016156.6(MTMR2):c.356G>A (p.Arg119Gln) rs759086106 0.00002
NM_002972.4(SBF1):c.1069A>G (p.Thr357Ala) rs746439204 0.00001
NM_006096.4(NDRG1):c.583C>T (p.Leu195Phe) rs1295024326 0.00001
NM_016156.6(MTMR2):c.146C>G (p.Ser49Cys) rs1170327910 0.00001
NM_030962.4(SBF2):c.4459C>T (p.Pro1487Ser) rs1590103742 0.00001
NM_002972.4(SBF1):c.2663G>A (p.Arg888His) rs201519518
NM_002972.4(SBF1):c.3873GGCCTC[3] (p.1292AS[3]) rs761546537
NM_002972.4(SBF1):c.5008C>T (p.Arg1670Trp) rs1158592167
NM_002972.4(SBF1):c.5507C>G (p.Ala1836Gly) rs373534319
NM_002972.4(SBF1):c.622C>A (p.Arg208Ser) rs777596406
NM_016156.6(MTMR2):c.94C>G (p.His32Asp) rs1591025020
NM_030962.4(SBF2):c.2894A>G (p.Asn965Ser) rs1008248276

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