List of variants in gene POLR3B reported as pathogenic for Charcot-Marie-Tooth disease, demyelinating, IIA 1I

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_018082.6(POLR3B):c.1568T>A (p.Val523Glu)	rs138249161	0.00028
NM_018082.6(POLR3B):c.1263+2T>C	rs774526181	0.00002
NM_018082.6(POLR3B):c.664C>T (p.Arg222Ter)	rs767558518	0.00001
NM_018082.6(POLR3B):c.1087G>A (p.Glu363Lys)	rs2136937347
NM_018082.6(POLR3B):c.1094C>T (p.Ala365Val)	rs2037218302
NM_018082.6(POLR3B):c.1124A>T (p.Asp375Val)	rs2037451945

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