List of variants reported as uncertain significance for Charcot-Marie-Tooth disease type 4B2 by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_030962.4(SBF2):c.3290C>A (p.Thr1097Asn)	rs141894081	0.00064
NM_030962.4(SBF2):c.5014_5016del (p.Lys1672del)	rs750958357	0.00063
NM_030962.4(SBF2):c.3824G>A (p.Arg1275His)	rs150028248	0.00059
NM_030962.4(SBF2):c.1424A>G (p.Gln475Arg)	rs199894823	0.00056
NM_030962.4(SBF2):c.3433A>G (p.Arg1145Gly)	rs145647154	0.00022
NM_030962.4(SBF2):c.3831C>G (p.Ile1277Met)	rs139522696	0.00021
NM_030962.4(SBF2):c.1967G>C (p.Cys656Ser)	rs138120231	0.00019
NM_030962.4(SBF2):c.2197C>G (p.Gln733Glu)	rs145199888	0.00014
NM_030962.4(SBF2):c.3574A>G (p.Thr1192Ala)	rs761285334	0.00007
NM_030962.4(SBF2):c.2424T>A (p.Asn808Lys)	rs146868794	0.00006
NM_030962.4(SBF2):c.3536G>A (p.Arg1179His)	rs751750978	0.00002
NM_030962.4(SBF2):c.109G>C (p.Asp37His)	rs759977048	0.00001
NM_030962.4(SBF2):c.4459C>T (p.Pro1487Ser)	rs1590103742	0.00001
NM_030962.4(SBF2):c.64G>A (p.Glu22Lys)	rs749815764	0.00001
NM_030962.4(SBF2):c.2894A>G (p.Asn965Ser)	rs1008248276

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