ClinVar Miner

List of variants in gene POLR3A reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 153
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HGVS dbSNP gnomAD frequency
NM_007055.4(POLR3A):c.3072-171T>C rs2559658 0.86703
NM_007055.4(POLR3A):c.646-134A>G rs2559825 0.71555
NM_007055.4(POLR3A):c.1186-127C>T rs1863898 0.37877
NM_007055.4(POLR3A):c.4024+299T>A rs4979937 0.20459
NM_007055.4(POLR3A):c.2479-125A>C rs2241551 0.19269
NM_007055.4(POLR3A):c.3430-42C>A rs3781180 0.17244
NM_007055.4(POLR3A):c.3892-231A>G rs10824587 0.16012
NM_007055.4(POLR3A):c.180+27A>C rs3758464 0.14949
NM_007055.4(POLR3A):c.4025-229T>G rs2241548 0.13119
NC_000010.11:g.78029704C>T rs80182817 0.13009
NM_007055.4(POLR3A):c.2988+42T>C rs3815891 0.12141
NM_007055.4(POLR3A):c.2788-294C>T rs72642271 0.10256
NM_007055.4(POLR3A):c.1909+292G>T rs2077554 0.09345
NM_007055.4(POLR3A):c.1573-252G>A rs1529426 0.09132
NM_007055.4(POLR3A):c.44+294A>G rs11002379 0.07148
NM_007055.4(POLR3A):c.3594+11A>C rs10509396 0.06976
NM_007055.4(POLR3A):c.3759+288A>C rs767056806 0.06199
NM_007055.4(POLR3A):c.2997G>T (p.Val999=) rs12241228 0.05870
NM_007055.4(POLR3A):c.646-139A>G rs77263147 0.05764
NM_007055.4(POLR3A):c.1431+323G>A rs72642275 0.03946
NC_000010.11:g.78029831C>T rs61393380 0.03932
NM_007055.4(POLR3A):c.646-316C>T rs72642276 0.03879
NM_007055.4(POLR3A):c.3760-91C>T rs116725827 0.03765
NM_007055.4(POLR3A):c.2286C>T (p.His762=) rs16935534 0.03554
NM_007055.4(POLR3A):c.2394T>C (p.Cys798=) rs35536566 0.03553
NM_007055.4(POLR3A):c.2100C>T (p.Ile700=) rs79793998 0.03469
NM_007055.4(POLR3A):c.1290-233C>T rs12264556 0.03466
NM_007055.4(POLR3A):c.3891+225C>G rs76597079 0.03401
NM_007055.4(POLR3A):c.2074+244C>T rs7910253 0.03343
NM_007055.4(POLR3A):c.3760-164C>T rs112500871 0.03254
NM_007055.4(POLR3A):c.3892-25C>T rs77363179 0.02992
NM_007055.4(POLR3A):c.1573-133G>A rs76809537 0.02956
NM_007055.4(POLR3A):c.645+54G>A rs116289012 0.02882
NM_007055.4(POLR3A):c.2901+166T>C rs146627262 0.02840
NM_007055.4(POLR3A):c.4025-31G>A rs10219086 0.02651
NM_007055.4(POLR3A):c.1643-118C>T rs12767179 0.02530
NM_007055.4(POLR3A):c.2902-101A>G rs41274604 0.02427
NM_007055.4(POLR3A):c.3430-23A>G rs74140820 0.02421
NM_007055.4(POLR3A):c.1910-68T>G rs78565561 0.02298
NM_007055.4(POLR3A):c.180+20C>T rs58812772 0.02270
NM_007055.4(POLR3A):c.1185+289T>C rs112173727 0.02268
NM_007055.4(POLR3A):c.3759+191G>A rs563525562 0.02152
NM_007055.4(POLR3A):c.3760-47T>C rs79345120 0.02060
NM_007055.4(POLR3A):c.3429+233G>A rs17441503 0.02006
NM_007055.4(POLR3A):c.2902-102A>G rs16935509 0.01788
NM_007055.4(POLR3A):c.1724A>T (p.Lys575Met) rs56214655 0.01630
NM_007055.4(POLR3A):c.3759+36G>C rs145084873 0.01588
NM_007055.4(POLR3A):c.4024+193G>A rs7918193 0.01269
NM_007055.4(POLR3A):c.2247+27C>T rs143228905 0.01170
NM_007055.4(POLR3A):c.4024+165A>G rs58356216 0.01169
NM_007055.4(POLR3A):c.2989-40C>A rs114221402 0.01124
NM_007055.4(POLR3A):c.1573-115C>T rs116163015 0.01099
NM_007055.4(POLR3A):c.885+19C>G rs12263414 0.01064
NM_007055.4(POLR3A):c.1566G>T (p.Leu522=) rs12255950 0.01052
NC_000010.11:g.78029687G>T rs11002380 0.01047
NM_007055.4(POLR3A):c.1431+209C>T rs77043871 0.00985
NM_007055.4(POLR3A):c.2478+157G>A rs138508753 0.00822
NM_007055.4(POLR3A):c.645+30G>A rs146605905 0.00722
NM_007055.4(POLR3A):c.*90G>A rs146055367 0.00610
NM_007055.4(POLR3A):c.3645C>T (p.Asp1215=) rs147591223 0.00606
NM_007055.4(POLR3A):c.2938A>G (p.Ile980Val) rs146253630 0.00599
NM_007055.4(POLR3A):c.4024+102G>A rs112379168 0.00553
NM_007055.4(POLR3A):c.3987T>C (p.Phe1329=) rs16935497 0.00487
NM_007055.4(POLR3A):c.3760-151C>T rs113877564 0.00481
NM_007055.4(POLR3A):c.3846C>T (p.Ile1282=) rs116197727 0.00444
NM_007055.4(POLR3A):c.3594+77T>C rs151150380 0.00437
NM_007055.4(POLR3A):c.2479-182T>C rs150343688 0.00421
NM_007055.4(POLR3A):c.1289+203T>A rs147412540 0.00417
NM_007055.4(POLR3A):c.3072-274G>C rs146637838 0.00401
NM_007055.4(POLR3A):c.1185+81A>C rs113528943 0.00373
NM_007055.4(POLR3A):c.2360-189G>A rs2288374 0.00260
NM_007055.4(POLR3A):c.621G>A (p.Val207=) rs149192341 0.00223
NM_007055.4(POLR3A):c.2334C>T (p.Leu778=) rs144671070 0.00187
NM_007055.4(POLR3A):c.4024+40A>G rs182372245 0.00171
NM_007055.4(POLR3A):c.1909+22G>A rs191875469 0.00156
NM_007055.4(POLR3A):c.4071C>T (p.Thr1357=) rs140044475 0.00120
NM_007055.4(POLR3A):c.3595-32G>A rs118135341 0.00062
NM_007055.4(POLR3A):c.4057A>G (p.Met1353Val) rs147168447 0.00051
NM_007055.4(POLR3A):c.1910-13A>G rs375882550 0.00041
NM_007055.4(POLR3A):c.3351T>A (p.Ile1117=) rs199559258 0.00008
NM_007055.4(POLR3A):c.3698G>A (p.Arg1233Gln) rs769323808 0.00008
NM_007055.4(POLR3A):c.2006G>A (p.Arg669Gln) rs770551721 0.00006
NM_007055.4(POLR3A):c.3388G>A (p.Val1130Ile) rs199581222 0.00006
NM_007055.4(POLR3A):c.2617C>T (p.Arg873Ter) rs148932047 0.00004
NM_007055.4(POLR3A):c.760C>T (p.Arg254Ter) rs141659018 0.00004
NM_007055.4(POLR3A):c.1572+1G>A rs141484643 0.00003
NM_007055.4(POLR3A):c.1901A>G (p.Asn634Ser) rs376651203 0.00003
NM_007055.4(POLR3A):c.1802T>A (p.Phe601Tyr) rs1278152116 0.00002
NM_007055.4(POLR3A):c.1847A>C (p.Asn616Thr) rs779523101 0.00002
NM_007055.4(POLR3A):c.2617-1G>A rs181087667 0.00002
NM_007055.4(POLR3A):c.1029A>T (p.Gln343His) rs774558569 0.00001
NM_007055.4(POLR3A):c.1390C>T (p.Arg464Trp) rs771732436 0.00001
NM_007055.4(POLR3A):c.1572+5G>A rs1440024141 0.00001
NM_007055.4(POLR3A):c.1682G>A (p.Arg561Gln) rs753456807 0.00001
NM_007055.4(POLR3A):c.1787C>T (p.Thr596Met) rs756953635 0.00001
NM_007055.4(POLR3A):c.1930G>A (p.Glu644Lys) rs755165065 0.00001
NM_007055.4(POLR3A):c.2005C>T (p.Arg669Ter) rs774007232 0.00001
NM_007055.4(POLR3A):c.2119C>T (p.Gln707Ter) rs780839834 0.00001
NM_007055.4(POLR3A):c.2434G>A (p.Gly812Ser) rs372788440 0.00001
NM_007055.4(POLR3A):c.2542T>C (p.Phe848Leu) rs1211210077 0.00001
NM_007055.4(POLR3A):c.2672G>A (p.Arg891Gln) rs1192248453 0.00001
NM_007055.4(POLR3A):c.3337-5T>A rs368905417 0.00001
NM_007055.4(POLR3A):c.601del (p.Ile201fs) rs777280350 0.00001
NM_007055.4(POLR3A):c.*272G>C rs2241547
NM_007055.4(POLR3A):c.1185+107dup rs113600478
NM_007055.4(POLR3A):c.1186-69G>A rs80017246
NM_007055.4(POLR3A):c.1360C>T (p.Leu454Phe)
NM_007055.4(POLR3A):c.1431+128del rs57076507
NM_007055.4(POLR3A):c.1431+34G>T rs7074690
NM_007055.4(POLR3A):c.171C>G (p.Asp57Glu) rs1057521176
NM_007055.4(POLR3A):c.1740dup (p.Val581fs) rs781745727
NM_007055.4(POLR3A):c.1745G>A (p.Arg582His) rs34588967
NM_007055.4(POLR3A):c.1745G>T (p.Arg582Leu) rs34588967
NM_007055.4(POLR3A):c.1770+50dup rs5786314
NM_007055.4(POLR3A):c.1770+78C>A rs45439493
NM_007055.4(POLR3A):c.1771-5C>G rs199733994
NM_007055.4(POLR3A):c.1771-6C>G rs115020338
NM_007055.4(POLR3A):c.1771-6C>T rs115020338
NM_007055.4(POLR3A):c.1771-7C>A rs201314157
NM_007055.4(POLR3A):c.1771-7C>G rs201314157
NM_007055.4(POLR3A):c.1910-218G>C
NM_007055.4(POLR3A):c.2247+53G>A rs60051748
NM_007055.4(POLR3A):c.2300G>T (p.Cys767Phe) rs1847364681
NM_007055.4(POLR3A):c.2359+311del rs140905949
NM_007055.4(POLR3A):c.2360-341C>G rs72642273
NM_007055.4(POLR3A):c.2470C>T (p.His824Tyr) rs1365082077
NM_007055.4(POLR3A):c.2478+48A>C rs7474957
NM_007055.4(POLR3A):c.2533A>G (p.Thr845Ala)
NM_007055.4(POLR3A):c.2547C>G (p.Phe849Leu) rs1847342207
NM_007055.4(POLR3A):c.2554A>G (p.Met852Val) rs267608671
NM_007055.4(POLR3A):c.2616+313G>T rs11002363
NM_007055.4(POLR3A):c.2618G>A (p.Arg873Gln) rs2131937171
NM_007055.4(POLR3A):c.2653C>T (p.Gln885Ter) rs1085307939
NM_007055.4(POLR3A):c.2741G>A (p.Gly914Glu) rs747257894
NM_007055.4(POLR3A):c.2988+1G>A rs201733323
NM_007055.4(POLR3A):c.3014G>T (p.Arg1005Leu) rs200118797
NM_007055.4(POLR3A):c.3100G>T (p.Gly1034Cys) rs1221825194
NM_007055.4(POLR3A):c.3562G>A (p.Val1188Met) rs140432781
NM_007055.4(POLR3A):c.3593A>G (p.Lys1198Arg) rs1589303073
NM_007055.4(POLR3A):c.3594+145T>G
NM_007055.4(POLR3A):c.3597G>T (p.Val1199=) rs778304603
NM_007055.4(POLR3A):c.3759+265_3759+267dup rs60259976
NM_007055.4(POLR3A):c.3759+265dup rs60259976
NM_007055.4(POLR3A):c.3759+284_3759+285dup rs60259976
NM_007055.4(POLR3A):c.3864G>A (p.Met1288Ile) rs1847140610
NM_007055.4(POLR3A):c.4024+127del rs10710971
NM_007055.4(POLR3A):c.4024+271G>T rs111713910
NM_007055.4(POLR3A):c.491-2A>G rs886041636
NM_007055.4(POLR3A):c.51C>G (p.His17Gln) rs2131962032
NM_007055.4(POLR3A):c.645+160dup rs59548771
NM_007055.4(POLR3A):c.645+177_645+178del rs59548771
NM_007055.4(POLR3A):c.645+178del rs59548771
NM_007055.4(POLR3A):c.645+71TC[2] rs147609485

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