List of variants in gene POLR3B reported as pathogenic for central nervous system malformation

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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: 18

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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.1568T>A (p.Val523Glu)	rs138249161	0.00031
NM_018082.6(POLR3B):c.2084-6A>G	rs747912710	0.00011
NM_018082.6(POLR3B):c.2303G>A (p.Arg768His)	rs267608687	0.00004
NM_018082.6(POLR3B):c.1018C>T (p.Arg340Ter)	rs148879912	0.00003
NM_018082.6(POLR3B):c.1648C>T (p.Arg550Ter)	rs267608688	0.00003
NM_018082.6(POLR3B):c.2774C>T (p.Pro925Leu)	rs775141057	0.00002
NM_018082.6(POLR3B):c.1857-2A>C	rs267608686	0.00001
NM_018082.6(POLR3B):c.2570+1G>A	rs753943393	0.00001
NM_018082.6(POLR3B):c.985C>T (p.Arg329Ter)	rs758437925	0.00001
NM_018082.6(POLR3B):c.1508C>A (p.Thr503Lys)	rs267608683
NM_018082.6(POLR3B):c.1533del (p.Ile511fs)	rs267608684
NM_018082.6(POLR3B):c.1763del (p.Asp588fs)	rs2137005362
NM_018082.6(POLR3B):c.2511del (p.Ile838fs)
NM_018082.6(POLR3B):c.2686A>T (p.Lys896Ter)	rs267608685
NM_018082.6(POLR3B):c.2774C>A (p.Pro925Gln)	rs775141057
NM_018082.6(POLR3B):c.2778C>G (p.Asp926Glu)	rs267608689
NM_018082.6(POLR3B):c.312G>T (p.Leu104Phe)	rs2136887072

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