ClinVar Miner

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

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_018082.6(POLR3B):c.773A>C (p.Glu258Ala) rs117911920 0.00081
NM_018082.6(POLR3B):c.1568T>A (p.Val523Glu) rs138249161 0.00031
NM_018082.6(POLR3B):c.2302C>T (p.Arg768Cys) rs371453512 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.1102-3dup rs202125845
NM_018082.6(POLR3B):c.1102-4_1102-3dup rs202125845
NM_018082.6(POLR3B):c.1124A>T (p.Asp375Val) rs2037451945
NM_018082.6(POLR3B):c.1757C>T (p.Ser586Phe)
NM_018082.6(POLR3B):c.2817_2817+1delinsCT
NM_018082.6(POLR3B):c.72+184_72+188del rs139244819

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