ClinVar Miner

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

Included ClinVar conditions (3):

Charcot-Marie-Tooth disease, demyelinating, IIA 1I
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism; Charcot-Marie-Tooth disease, demyelinating, IIA 1I
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
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
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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