ClinVar Miner

List of variants in gene POLR3A reported as uncertain significance for POLR3-related leukodystrophy

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 132
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_007055.4(POLR3A):c.*90G>A rs146055367 0.00610
NM_007055.4(POLR3A):c.1909+22G>A rs191875469 0.00156
NM_007055.4(POLR3A):c.2604G>A (p.Thr868=) rs142834115 0.00155
NM_007055.4(POLR3A):c.*620G>A rs184043149 0.00127
NM_007055.4(POLR3A):c.*1564C>G rs540625875 0.00097
NM_007055.4(POLR3A):c.*1339A>C rs183880409 0.00096
NM_007055.4(POLR3A):c.3436G>A (p.Ala1146Thr) rs41274600 0.00083
NM_007055.4(POLR3A):c.*469T>C rs567251074 0.00073
NM_007055.4(POLR3A):c.1910-13A>G rs375882550 0.00041
NM_007055.4(POLR3A):c.*586G>A rs759187201 0.00033
NM_007055.4(POLR3A):c.*1207T>C rs886047279 0.00026
NM_007055.4(POLR3A):c.*989G>A rs570095005 0.00026
NM_007055.4(POLR3A):c.*1585C>T rs981764155 0.00021
NM_007055.4(POLR3A):c.2976C>T (p.Asn992=) rs143461869 0.00019
NM_007055.4(POLR3A):c.156A>G (p.Leu52=) rs373974792 0.00017
NM_007055.4(POLR3A):c.1113C>T (p.Pro371=) rs535797845 0.00015
NM_007055.4(POLR3A):c.2993G>A (p.Arg998His) rs139665002 0.00013
NM_007055.4(POLR3A):c.4002C>T (p.Phe1334=) rs112788477 0.00013
NM_007055.4(POLR3A):c.1771-4T>C rs569766176 0.00012
NM_007055.4(POLR3A):c.3822C>T (p.Thr1274=) rs149961298 0.00010
NM_007055.4(POLR3A):c.3990C>T (p.Asp1330=) rs201875398 0.00010
NM_007055.4(POLR3A):c.*2073C>A rs756926484 0.00009
NM_007055.4(POLR3A):c.3698G>A (p.Arg1233Gln) rs769323808 0.00008
NM_007055.4(POLR3A):c.*1945G>A rs886047273 0.00007
NM_007055.4(POLR3A):c.*2190G>C rs886047272 0.00007
NM_007055.4(POLR3A):c.*1219T>A rs754930909 0.00006
NM_007055.4(POLR3A):c.*344C>T rs545793119 0.00006
NM_007055.4(POLR3A):c.*910G>A rs960729923 0.00006
NM_007055.4(POLR3A):c.1734A>T (p.Lys578Asn) rs376753355 0.00006
NM_007055.4(POLR3A):c.3388G>A (p.Val1130Ile) rs199581222 0.00006
NM_007055.4(POLR3A):c.3646G>A (p.Glu1216Lys) rs143679064 0.00006
NM_007055.4(POLR3A):c.*1335A>G rs939466876 0.00005
NM_007055.4(POLR3A):c.*1457G>A rs562775653 0.00005
NM_007055.4(POLR3A):c.3858C>T (p.His1286=) rs373306216 0.00005
NM_007055.4(POLR3A):c.*1097G>A rs995442183 0.00004
NM_007055.4(POLR3A):c.1770+6T>C rs755543610 0.00004
NM_007055.4(POLR3A):c.2686G>A (p.Asp896Asn) rs773941193 0.00004
NM_007055.4(POLR3A):c.3343G>A (p.Glu1115Lys) rs770305694 0.00004
NM_007055.4(POLR3A):c.3350T>C (p.Ile1117Thr) rs762055380 0.00004
NM_007055.4(POLR3A):c.3786C>T (p.Ala1262=) rs184961157 0.00004
NM_007055.4(POLR3A):c.774T>C (p.Pro258=) rs144576999 0.00004
NM_007055.4(POLR3A):c.*1100G>T rs886047281 0.00003
NM_007055.4(POLR3A):c.*1873C>T rs886047274 0.00003
NM_007055.4(POLR3A):c.1901A>G (p.Asn634Ser) rs376651203 0.00003
NM_007055.4(POLR3A):c.2662C>A (p.Leu888Met) rs752264933 0.00003
NM_007055.4(POLR3A):c.3697C>A (p.Arg1233=) rs576629157 0.00003
NM_007055.4(POLR3A):c.*1129G>A rs1323901501 0.00002
NM_007055.4(POLR3A):c.*923G>C rs990499323 0.00002
NM_007055.4(POLR3A):c.-15C>T rs759366601 0.00002
NM_007055.4(POLR3A):c.2081G>A (p.Arg694His) rs376405070 0.00002
NM_007055.4(POLR3A):c.2916C>T (p.Phe972=) rs763107166 0.00002
NM_007055.4(POLR3A):c.701A>T (p.Asp234Val) rs375183429 0.00002
NM_007055.4(POLR3A):c.*1607G>A rs760061298 0.00001
NM_007055.4(POLR3A):c.1041A>C (p.Gly347=) rs886047291 0.00001
NM_007055.4(POLR3A):c.1369G>A (p.Gly457Arg) rs768880752 0.00001
NM_007055.4(POLR3A):c.1596G>A (p.Pro532=) rs774589725 0.00001
NM_007055.4(POLR3A):c.1682G>A (p.Arg561Gln) rs753456807 0.00001
NM_007055.4(POLR3A):c.169G>A (p.Asp57Asn) rs779315061 0.00001
NM_007055.4(POLR3A):c.1824C>T (p.Ser608=) rs376895980 0.00001
NM_007055.4(POLR3A):c.1930G>A (p.Glu644Lys) rs755165065 0.00001
NM_007055.4(POLR3A):c.2433C>T (p.Asp811=) rs757277769 0.00001
NM_007055.4(POLR3A):c.2617-6C>T rs886047285 0.00001
NM_007055.4(POLR3A):c.2672G>A (p.Arg891Gln) rs1192248453 0.00001
NM_007055.4(POLR3A):c.2784C>A (p.Ile928=) rs1253822191 0.00001
NM_007055.4(POLR3A):c.3677T>C (p.Leu1226Pro) rs1370860604 0.00001
NM_007055.4(POLR3A):c.3787G>A (p.Ala1263Thr) rs560414667 0.00001
NM_007055.4(POLR3A):c.4024+11T>G rs886047283 0.00001
NM_007055.4(POLR3A):c.496G>A (p.Val166Ile) rs370515749 0.00001
NM_007055.4(POLR3A):c.726A>G (p.Pro242=) rs757615089 0.00001
NM_007055.4(POLR3A):c.871G>A (p.Asp291Asn) rs140717091 0.00001
NM_007055.4(POLR3A):c.*1015T>C rs886047282
NM_007055.4(POLR3A):c.*1159C>T rs886047280
NM_007055.4(POLR3A):c.*1341A>C rs1847087055
NM_007055.4(POLR3A):c.*1342A>G rs1847086903
NM_007055.4(POLR3A):c.*1342del rs56144624
NM_007055.4(POLR3A):c.*150G>C rs1847098476
NM_007055.4(POLR3A):c.*1569C>T rs886047278
NM_007055.4(POLR3A):c.*1640del rs886047277
NM_007055.4(POLR3A):c.*1643C>T rs544414095
NM_007055.4(POLR3A):c.*1771_*1780del rs529607825
NM_007055.4(POLR3A):c.*1825T>G rs886047276
NM_007055.4(POLR3A):c.*1867A>G rs137945349
NM_007055.4(POLR3A):c.*1869C>T rs886047275
NM_007055.4(POLR3A):c.*1953G>A rs141086010
NM_007055.4(POLR3A):c.*1953G>C rs141086010
NM_007055.4(POLR3A):c.*2134C>A rs753333424
NM_007055.4(POLR3A):c.*2205T>G rs759985023
NM_007055.4(POLR3A):c.*272G>A rs2241547
NM_007055.4(POLR3A):c.*303C>T rs1847097116
NM_007055.4(POLR3A):c.*308A>T rs1373244366
NM_007055.4(POLR3A):c.*671T>C rs1847093918
NM_007055.4(POLR3A):c.*936T>G rs560141767
NM_007055.4(POLR3A):c.1024G>T (p.Val342Phe) rs141899032
NM_007055.4(POLR3A):c.1031G>T (p.Arg344Leu)
NM_007055.4(POLR3A):c.1049-6A>C rs1847581163
NM_007055.4(POLR3A):c.1186G>T (p.Val396Leu) rs1428468560
NM_007055.4(POLR3A):c.1400C>T (p.Ser467Leu) rs1589316371
NM_007055.4(POLR3A):c.1409A>G (p.Lys470Arg) rs1847537055
NM_007055.4(POLR3A):c.1432-12T>G rs886047290
NM_007055.4(POLR3A):c.1451G>A (p.Arg484Gln)
NM_007055.4(POLR3A):c.1509T>C (p.Asp503=) rs1847488748
NM_007055.4(POLR3A):c.1572+1G>T rs141484643
NM_007055.4(POLR3A):c.1572+3A>G
NM_007055.4(POLR3A):c.163G>A (p.Val55Met) rs886047293
NM_007055.4(POLR3A):c.1642+9G>C rs763849177
NM_007055.4(POLR3A):c.1649A>G (p.Tyr550Cys) rs886047289
NM_007055.4(POLR3A):c.1674C>G (p.Phe558Leu) rs267608668
NM_007055.4(POLR3A):c.1683A>G (p.Arg561=) rs886047288
NM_007055.4(POLR3A):c.1771-5C>G rs199733994
NM_007055.4(POLR3A):c.1771-5del rs544204280
NM_007055.4(POLR3A):c.1771-7C>G rs201314157
NM_007055.4(POLR3A):c.1781T>G (p.Leu594Arg) rs886047287
NM_007055.4(POLR3A):c.1804A>C (p.Ser602Arg) rs762708292
NM_007055.4(POLR3A):c.1895G>T (p.Cys632Phe)
NM_007055.4(POLR3A):c.1935G>C (p.Leu645Phe) rs751735990
NM_007055.4(POLR3A):c.2050G>C (p.Ala684Pro)
NM_007055.4(POLR3A):c.2074+9C>G rs886047286
NM_007055.4(POLR3A):c.2210AGC[4] (p.Gln739_Pro740insGln)
NM_007055.4(POLR3A):c.2287G>A (p.Ala763Thr) rs755825816
NM_007055.4(POLR3A):c.2300G>T (p.Cys767Phe) rs1847364681
NM_007055.4(POLR3A):c.2447G>A (p.Arg816Lys)
NM_007055.4(POLR3A):c.2493A>T (p.Lys831Asn) rs1847342705
NM_007055.4(POLR3A):c.2779A>G (p.Asn927Asp) rs1847266431
NM_007055.4(POLR3A):c.3476G>A (p.Arg1159His) rs150484386
NM_007055.4(POLR3A):c.3771T>C (p.Thr1257=) rs1847142347
NM_007055.4(POLR3A):c.3826G>A (p.Val1276Met)
NM_007055.4(POLR3A):c.3893G>T (p.Gly1298Val)
NM_007055.4(POLR3A):c.4012G>A (p.Asp1338Asn) rs1397746244
NM_007055.4(POLR3A):c.4129C>G (p.Leu1377Val) rs1206263953
NM_007055.4(POLR3A):c.577T>A (p.Phe193Ile) rs1847614190
NM_007055.4(POLR3A):c.876T>A (p.Val292=) rs886047292
NM_007055.4(POLR3A):c.92A>G (p.Gln31Arg)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.