ClinVar Miner

List of variants in gene POLR3B studied for Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome; Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism; Charcot-Marie-Tooth disease, demyelinating, IIA 1I

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 4

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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.1102-3dup	rs202125845
NM_018082.6(POLR3B):c.1102-4_1102-3dup	rs202125845
NM_018082.6(POLR3B):c.72+184_72+188del	rs139244819

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