List of variants reported as likely pathogenic for Charcot-Marie-Tooth disease, demyelinating, IIA 1I by Molecular Diagnostics Lab, Nemours Children's Health, Delaware

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_018082.6(POLR3B):c.1568T>A (p.Val523Glu)	rs138249161	0.00031
NM_018082.6(POLR3B):c.2084-6A>G	rs747912710	0.00011
NM_018082.6(POLR3B):c.1999G>A (p.Val667Met)	rs756536922	0.00001
NM_018082.6(POLR3B):c.847-2A>C

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