ClinVar Miner

List of variants in gene POLR3A reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_007055.4(POLR3A):c.3436G>A (p.Ala1146Thr) rs41274600 0.00083
NM_007055.4(POLR3A):c.1729G>A (p.Glu577Lys) rs151084236 0.00033
NM_007055.4(POLR3A):c.2993G>A (p.Arg998His) rs139665002 0.00013
NM_007055.4(POLR3A):c.3646G>A (p.Glu1216Lys) rs143679064 0.00006
NM_007055.4(POLR3A):c.1770+6T>C rs755543610 0.00004
NM_007055.4(POLR3A):c.835C>G (p.Leu279Val) rs969594136 0.00003
NM_007055.4(POLR3A):c.2521G>A (p.Gly841Ser) rs192332506 0.00002
NM_007055.4(POLR3A):c.1631A>C (p.Asp544Ala) rs2131950070
NM_007055.4(POLR3A):c.1895G>A (p.Cys632Tyr) rs752754110
NM_007055.4(POLR3A):c.2359G>A (p.Gly787Ser) rs1316333662
NM_007055.4(POLR3A):c.2402A>C (p.Gln801Pro) rs1847352150
NM_007055.4(POLR3A):c.3371A>G (p.Asp1124Gly) rs1264479928
NM_007055.4(POLR3A):c.3503A>C (p.His1168Pro)
NM_007055.4(POLR3A):c.3596T>G (p.Val1199Gly) rs1564613258
NM_007055.4(POLR3A):c.3644A>G (p.Asp1215Gly) rs978781462
NM_007055.4(POLR3A):c.4025-3C>T
NM_007055.4(POLR3A):c.4125G>T (p.Arg1375Ser) rs759686921
NM_007055.4(POLR3A):c.4126C>T (p.Pro1376Ser) rs185669283
NM_007055.4(POLR3A):c.641C>T (p.Ala214Val) rs1589319208

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