ClinVar Miner

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

Included ClinVar conditions (30):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_006096.4(NDRG1):c.-18-2_-18-1del rs371927413 0.00490
NM_030962.4(SBF2):c.2323G>A (p.Gly775Ser) rs141330687 0.00267
NM_002972.4(SBF1):c.1668T>C (p.His556=) rs139208738 0.00257
NM_002972.4(SBF1):c.898-18G>A rs369814596 0.00252
NM_002972.4(SBF1):c.4927C>A (p.Pro1643Thr) rs202049257 0.00229
NM_002972.4(SBF1):c.1968+15G>A rs41281539 0.00224
NM_002972.4(SBF1):c.868G>A (p.Ala290Thr) rs201776298 0.00222
NM_001370298.3(FGD4):c.647C>T (p.Thr216Ile) rs145115430 0.00213
NM_002972.4(SBF1):c.2079C>T (p.His693=) rs199672732 0.00188
NM_001370298.3(FGD4):c.666A>T (p.Ala222=) rs139357821 0.00161
NM_002972.4(SBF1):c.3666G>A (p.Lys1222=) rs373529561 0.00144
NM_002972.4(SBF1):c.5463C>T (p.Tyr1821=) rs144773853 0.00131
NM_006096.4(NDRG1):c.789G>A (p.Ser263=) rs61755062 0.00102
NM_002972.4(SBF1):c.3765C>T (p.Tyr1255=) rs201985055 0.00100
NM_002972.4(SBF1):c.898-4G>A rs377428323 0.00088
NM_002972.4(SBF1):c.2034G>A (p.Thr678=) rs139798340 0.00066
NM_002972.4(SBF1):c.3905-9C>T rs574807761 0.00053
NM_030962.4(SBF2):c.5058A>T (p.Arg1686Ser) rs146230559 0.00046
NM_002972.4(SBF1):c.549+10G>A rs187441948 0.00043
NM_002972.4(SBF1):c.1432-12G>A rs377210668 0.00040
NM_002972.4(SBF1):c.2569+4C>T rs200379541 0.00039
NM_002972.4(SBF1):c.142-3C>T rs191369963 0.00038
NM_002972.4(SBF1):c.5022C>T (p.Asp1674=) rs570393243 0.00035
NM_002972.4(SBF1):c.2697C>A (p.Gly899=) rs374888082 0.00024
NM_002972.4(SBF1):c.2967+8G>A rs374708421 0.00021
NM_002972.4(SBF1):c.5595G>A (p.Thr1865=) rs371139013 0.00017
NM_030962.4(SBF2):c.2319G>A (p.Ala773=) rs201547070 0.00016
NM_002972.4(SBF1):c.4521C>T (p.Pro1507=) rs534889802 0.00014
NM_002972.4(SBF1):c.1164C>T (p.Val388=) rs376600058 0.00011
NM_002972.4(SBF1):c.4047A>T (p.Arg1349=) rs894127251 0.00011
NM_030962.4(SBF2):c.2436C>T (p.Ala812=) rs374225152 0.00007
NM_002972.4(SBF1):c.3399C>T (p.Leu1133=) rs367869582 0.00005
NM_002972.4(SBF1):c.219C>T (p.Ile73=) rs750211528 0.00003
NM_002972.4(SBF1):c.1917C>T (p.Asp639=) rs750516504 0.00002
NM_002972.4(SBF1):c.651G>A (p.Gln217=) rs1292863100 0.00002
NM_001370298.3(FGD4):c.1404+5T>C rs373712001 0.00001
NM_002972.4(SBF1):c.3462G>T (p.Pro1154=) rs371815025 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_016156.6(MTMR2):c.213A>G (p.Ala71=) rs1402885565 0.00001
NM_030962.4(SBF2):c.1893C>T (p.Ala631=) rs760154688 0.00001
NM_030962.4(SBF2):c.4416C>T (p.Phe1472=) rs1347990916 0.00001
NM_001370298.3(FGD4):c.1543+17dup rs548627916
NM_001370298.3(FGD4):c.2122C>A (p.Pro708Thr) rs144693221
NM_001370298.3(FGD4):c.504-20C>G rs1592293275
NM_002972.4(SBF1):c.2799G>A (p.Thr933=) rs774121119
NM_006096.4(NDRG1):c.1053_1082del (p.340TRSRSHTSEG[2]) rs751274009
NM_030962.4(SBF2):c.1863T>C (p.Asp621=)
NM_030962.4(SBF2):c.2611-35AATC[6] rs202029370
NM_030962.4(SBF2):c.5017GAA[1] (p.Glu1674del) rs572571832

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