List of variants in gene POLR3B reported as benign for hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism

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

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_018082.6(POLR3B):c.2055T>C (p.Tyr685=)	rs10861607	0.22605
NM_018082.6(POLR3B):c.2218A>G (p.Thr740Ala)	rs17038460	0.04732
NM_018082.6(POLR3B):c.-95C>T	rs17219334	0.02211
NM_018082.6(POLR3B):c.-1C>T	rs117873765	0.00704
NM_018082.6(POLR3B):c.773A>C (p.Glu258Ala)	rs117911920	0.00081
NM_018082.6(POLR3B):c.-106A>G	rs560914710	0.00070
NM_018082.6(POLR3B):c.2084-15C>T	rs181026609	0.00061
NM_018082.6(POLR3B):c.399C>T (p.Ile133=)	rs147328031	0.00060
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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