List of variants reported as uncertain significance for Charcot-Marie-Tooth disease by Genomic Research Center, Shahid Beheshti University of Medical Sciences

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Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_030962.4(SBF2):c.5014_5016del (p.Lys1672del)	rs750958357	0.00065
NM_014845.6(FIG4):c.834A>T (p.Lys278Asn)	rs138048706	0.00029
NM_002972.4(SBF1):c.1918G>C (p.Glu640Gln)	rs199783239	0.00021
NM_001358263.1(HK1):c.4G>A (p.Gly2Arg)	rs766565453	0.00004
NM_181882.3(PRX):c.4318G>A (p.Val1440Met)	rs138437458	0.00003
NM_018706.7(DHTKD1):c.1792C>T (p.Arg598Cys)	rs375292909	0.00002
NM_030962.4(SBF2):c.3935G>A (p.Arg1312Gln)	rs768571931	0.00002
NM_000166.6(GJB1):c.670C>T (p.Arg224Cys)	rs1426533412	0.00001
NM_000263.4(NAGLU):c.1304A>G (p.Asn435Ser)	rs764815033
NM_000399.5(EGR2):c.1084C>T (p.Arg362Ter)	rs1554853028
NM_000399.5(EGR2):c.380C>T (p.Pro127Leu)	rs932803146
NM_001370298.3(FGD4):c.1367G>A (p.Arg456His)	rs533939591
NM_001370298.3(FGD4):c.167-77996del	rs1357153004
NM_001540.5(HSPB1):c.45C>A (p.Ser15Arg)	rs780878780
NM_002972.4(SBF1):c.1448C>G (p.Ala483Gly)	rs1556430522
NM_003172.4(SURF1):c.808_814dup (p.Leu272fs)	rs1554768224
NM_014874.4(MFN2):c.1555C>T (p.Arg519Cys)	rs369140232
NM_181882.3(PRX):c.1483_1560del (p.469ELPKVSEMKLPKVPEMAVPEVRLPEV[1])	rs1555801137

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