List of variants in gene POLR3B reported as likely pathogenic 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: 22

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HGVS	dbSNP	gnomAD frequency
NM_018082.6(POLR3B):c.1244T>C (p.Met415Thr)	rs199504211	0.00069
NM_018082.6(POLR3B):c.2084-6A>G	rs747912710	0.00011
NM_018082.6(POLR3B):c.1988C>T (p.Thr663Ile)	rs755312623	0.00004
NM_018082.6(POLR3B):c.1263+2T>C	rs774526181	0.00002
NM_018082.6(POLR3B):c.1857-2A>C	rs267608686	0.00001
NM_018082.6(POLR3B):c.2104C>T (p.Arg702Ter)	rs201401034	0.00001
NM_018082.6(POLR3B):c.2278G>A (p.Ala760Thr)	rs146513209	0.00001
NM_018082.6(POLR3B):c.2302C>T (p.Arg768Cys)	rs371453512	0.00001
NM_018082.6(POLR3B):c.2413C>T (p.Arg805Ter)	rs1437442253	0.00001
NM_018082.6(POLR3B):c.308G>A (p.Arg103His)	rs780148992	0.00001
NM_018082.6(POLR3B):c.985C>T (p.Arg329Ter)	rs758437925	0.00001
NM_018082.5(POLR3B):c.[1568T>A];[1988C>T]
NM_018082.6(POLR3B):c.1028T>C (p.Ile343Thr)
NM_018082.6(POLR3B):c.1325G>T (p.Arg442Leu)	rs201153027
NM_018082.6(POLR3B):c.1464+1G>T
NM_018082.6(POLR3B):c.1612_1614del (p.Leu538del)	rs797045895
NM_018082.6(POLR3B):c.1939G>A (p.Glu647Lys)	rs755658678
NM_018082.6(POLR3B):c.2099A>C (p.Asn700Thr)	rs2037839447
NM_018082.6(POLR3B):c.2293+1G>A
NM_018082.6(POLR3B):c.2809C>T (p.Arg937Ter)
NM_018082.6(POLR3B):c.664C>T (p.Arg222Ter)
NM_018082.6(POLR3B):c.986G>A (p.Arg329Gln)

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