ClinVar Miner

List of variants in gene POLR3A reported by GeneReviews

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Total variants: 56
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HGVS dbSNP gnomAD frequency
NM_007055.4(POLR3A):c.1909+22G>A rs191875469 0.00156
NM_007055.4(POLR3A):c.2381A>C (p.Gln794Pro) rs552353597 0.00025
NM_007055.4(POLR3A):c.2045G>A (p.Arg682Gln) rs781132110 0.00004
NM_007055.4(POLR3A):c.3781G>A (p.Glu1261Lys) rs371703979 0.00004
NM_007055.4(POLR3A):c.2350G>A (p.Gly784Ser) rs771786550 0.00002
NM_007055.4(POLR3A):c.2617-1G>A rs181087667 0.00002
NM_007055.4(POLR3A):c.3013C>T (p.Arg1005Cys) rs267608682 0.00002
NM_007055.4(POLR3A):c.3014G>A (p.Arg1005His) rs200118797 0.00002
NM_007055.4(POLR3A):c.1114G>A (p.Asp372Asn) rs267608673 0.00001
NM_007055.4(POLR3A):c.1301dup (p.Tyr434Ter) rs1376632879 0.00001
NM_007055.4(POLR3A):c.169G>A (p.Asp57Asn) rs779315061 0.00001
NM_007055.4(POLR3A):c.1795C>A (p.Gln599Lys) rs1190946400 0.00001
NM_007055.4(POLR3A):c.1930G>A (p.Glu644Lys) rs755165065 0.00001
NM_007055.4(POLR3A):c.2015G>A (p.Gly672Glu) rs267608670 0.00001
NM_007055.4(POLR3A):c.2542T>C (p.Phe848Leu) rs1211210077 0.00001
NM_007055.4(POLR3A):c.3407G>A (p.Arg1136Gln) rs763270865 0.00001
NM_007055.4(POLR3A):c.3718G>A (p.Gly1240Ser) rs1003620056 0.00001
NM_007055.4(POLR3A):c.3991G>A (p.Ala1331Thr) rs267608680 0.00001
NM_007055.4(POLR3A):c.496G>A (p.Val166Ile) rs370515749 0.00001
NM_007055.4(POLR3A):c.1048+1G>A rs2131958310
NM_007055.4(POLR3A):c.1160C>G (p.Ala387Gly) rs1307896663
NM_007055.4(POLR3A):c.1186G>T (p.Val396Leu) rs1428468560
NM_007055.4(POLR3A):c.1289+3A>C rs750084731
NM_007055.4(POLR3A):c.1433C>G (p.Ala478Gly) rs946655603
NM_007055.4(POLR3A):c.1658C>T (p.Thr553Ile) rs1847450791
NM_007055.4(POLR3A):c.1674C>G (p.Phe558Leu) rs267608668
NM_007055.4(POLR3A):c.1740dup (p.Val581fs) rs781745727
NM_007055.4(POLR3A):c.1771-6C>G rs115020338
NM_007055.4(POLR3A):c.1797G>C (p.Gln599His) rs2131949315
NM_007055.4(POLR3A):c.1804A>C (p.Ser602Arg) rs762708292
NM_007055.4(POLR3A):c.1907C>A (p.Ser636Tyr) rs267608676
NM_007055.4(POLR3A):c.1909+18G>A rs267608677
NM_007055.4(POLR3A):c.1935G>C (p.Leu645Phe) rs751735990
NM_007055.4(POLR3A):c.2005C>G (p.Arg669Gly) rs774007232
NM_007055.4(POLR3A):c.2011T>C (p.Trp671Arg) rs1446265632
NM_007055.4(POLR3A):c.2039T>C (p.Met680Thr) rs2131947804
NM_007055.4(POLR3A):c.2098A>T (p.Ile700Phe) rs746116821
NM_007055.4(POLR3A):c.2171G>A (p.Cys724Tyr) rs267608679
NM_007055.4(POLR3A):c.2324A>T (p.Asn775Ile) rs267608672
NM_007055.4(POLR3A):c.2411T>C (p.Ile804Thr) rs1847352019
NM_007055.4(POLR3A):c.2547C>G (p.Phe849Leu) rs1847342207
NM_007055.4(POLR3A):c.2549A>G (p.His850Arg) rs2131942139
NM_007055.4(POLR3A):c.2554A>G (p.Met852Val) rs267608671
NM_007055.4(POLR3A):c.2618G>A (p.Arg873Gln) rs2131937171
NM_007055.4(POLR3A):c.2660A>T (p.Asp887Val) rs1467597625
NM_007055.4(POLR3A):c.2690T>A (p.Ile897Asn) rs267608681
NM_007055.4(POLR3A):c.2710G>A (p.Gly904Arg) rs748548960
NM_007055.4(POLR3A):c.2810A>T (p.Glu937Val) rs1210221584
NM_007055.4(POLR3A):c.2821A>C (p.Ser941Arg) rs1259778579
NM_007055.4(POLR3A):c.2830G>T (p.Glu944Ter) rs267608674
NM_007055.4(POLR3A):c.2988+1G>T rs201733323
NM_007055.4(POLR3A):c.3742_3743insACC (p.Ser1248delinsTyrPro) rs267608669
NM_007055.4(POLR3A):c.3745A>C (p.Asn1249His) rs1847152494
NM_007055.4(POLR3A):c.4006C>T (p.Gln1336Ter) rs267608675
NM_007055.4(POLR3A):c.552_553delinsT (p.Lys184fs) rs2131960689
NM_007055.4(POLR3A):c.930G>C (p.Trp310Cys) rs1217230904

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