ClinVar Miner

List of variants in gene POLR3B reported as pathogenic by GeneDx

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_018082.6(POLR3B):c.1244T>C (p.Met415Thr) rs199504211 0.00066
NM_018082.6(POLR3B):c.1568T>A (p.Val523Glu) rs138249161 0.00028
NM_018082.6(POLR3B):c.2084-6A>G rs747912710 0.00010
NM_018082.6(POLR3B):c.1648C>T (p.Arg550Ter) rs267608688 0.00003
NM_018082.6(POLR3B):c.1263+2T>C rs774526181 0.00002
NM_018082.6(POLR3B):c.2774C>T (p.Pro925Leu) rs775141057 0.00002
NM_018082.6(POLR3B):c.2104C>T (p.Arg702Ter) rs201401034 0.00001
NM_018082.6(POLR3B):c.664C>T (p.Arg222Ter) rs767558518 0.00001
NM_018082.6(POLR3B):c.1285T>G (p.Phe429Val) rs2137001936
NM_018082.6(POLR3B):c.1297C>T (p.Arg433Cys) rs2137001947
NM_018082.6(POLR3B):c.1765G>A (p.Gly589Arg) rs2542118910
NM_018082.6(POLR3B):c.2777A>G (p.Asp926Gly) rs1064793739
NM_018082.6(POLR3B):c.833dup (p.Thr279fs) rs1261509815

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