ClinVar Miner

List of variants in gene POLR3A studied for Hypomyelinating leukodystrophy 7

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Gene type:
ClinVar version:
Total variants: 205
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HGVS dbSNP
NM_007055.3(POLR3A):c.2554A>G rs267608671
NM_007055.3(POLR3A):c.[2554A>G];[367_369delAAG]
NM_007055.4(POLR3A):c.*1015T>C rs886047282
NM_007055.4(POLR3A):c.*1097G>A
NM_007055.4(POLR3A):c.*1100G>T rs886047281
NM_007055.4(POLR3A):c.*1129G>A
NM_007055.4(POLR3A):c.*1152G>A
NM_007055.4(POLR3A):c.*1159C>T rs886047280
NM_007055.4(POLR3A):c.*1207T>C rs886047279
NM_007055.4(POLR3A):c.*1219T>A rs754930909
NM_007055.4(POLR3A):c.*1303C>T rs188968443
NM_007055.4(POLR3A):c.*1323C>T rs45570840
NM_007055.4(POLR3A):c.*1335A>G
NM_007055.4(POLR3A):c.*1339A>C
NM_007055.4(POLR3A):c.*1341A>C
NM_007055.4(POLR3A):c.*1342A>G
NM_007055.4(POLR3A):c.*135G>T rs531659725
NM_007055.4(POLR3A):c.*136C>T rs568729735
NM_007055.4(POLR3A):c.*1448A>G rs78703311
NM_007055.4(POLR3A):c.*1457G>A
NM_007055.4(POLR3A):c.*1461A>G rs3088264
NM_007055.4(POLR3A):c.*150G>C
NM_007055.4(POLR3A):c.*1564C>G
NM_007055.4(POLR3A):c.*1569C>T rs886047278
NM_007055.4(POLR3A):c.*1585C>T
NM_007055.4(POLR3A):c.*1589G>A rs16935486
NM_007055.4(POLR3A):c.*1607G>A
NM_007055.4(POLR3A):c.*1643C>T
NM_007055.4(POLR3A):c.*1680C>G rs80022412
NM_007055.4(POLR3A):c.*1695G>A rs61152426
NM_007055.4(POLR3A):c.*1718G>C rs144088118
NM_007055.4(POLR3A):c.*1763G>A rs4979935
NM_007055.4(POLR3A):c.*1782G>A rs11817392
NM_007055.4(POLR3A):c.*1825T>G rs886047276
NM_007055.4(POLR3A):c.*1853C>T rs11002351
NM_007055.4(POLR3A):c.*1862G>A rs12572507
NM_007055.4(POLR3A):c.*1867A>G rs137945349
NM_007055.4(POLR3A):c.*1869C>T rs886047275
NM_007055.4(POLR3A):c.*1873C>T rs886047274
NM_007055.4(POLR3A):c.*1924G>A rs146925988
NM_007055.4(POLR3A):c.*1945G>A rs886047273
NM_007055.4(POLR3A):c.*1953G>A rs141086010
NM_007055.4(POLR3A):c.*1953G>C rs141086010
NM_007055.4(POLR3A):c.*1965A>G rs2241546
NM_007055.4(POLR3A):c.*201G>A
NM_007055.4(POLR3A):c.*2039C>T rs114774764
NM_007055.4(POLR3A):c.*2073C>A rs756926484
NM_007055.4(POLR3A):c.*2134C>A rs753333424
NM_007055.4(POLR3A):c.*2190G>C rs886047272
NM_007055.4(POLR3A):c.*2205T>G rs759985023
NM_007055.4(POLR3A):c.*272G>C rs2241547
NM_007055.4(POLR3A):c.*303C>T
NM_007055.4(POLR3A):c.*308A>T
NM_007055.4(POLR3A):c.*339A>G
NM_007055.4(POLR3A):c.*344C>T
NM_007055.4(POLR3A):c.*345A>C rs74538796
NM_007055.4(POLR3A):c.*426C>T rs76696077
NM_007055.4(POLR3A):c.*469T>C rs567251074
NM_007055.4(POLR3A):c.*470G>A rs74704054
NM_007055.4(POLR3A):c.*586G>A
NM_007055.4(POLR3A):c.*620G>A rs184043149
NM_007055.4(POLR3A):c.*671T>C
NM_007055.4(POLR3A):c.*673A>G rs150842225
NM_007055.4(POLR3A):c.*690C>T rs74451934
NM_007055.4(POLR3A):c.*813A>G rs186927032
NM_007055.4(POLR3A):c.*818G>A
NM_007055.4(POLR3A):c.*883T>A rs113075575
NM_007055.4(POLR3A):c.*90G>A rs146055367
NM_007055.4(POLR3A):c.*910G>A
NM_007055.4(POLR3A):c.*920T>C rs77590844
NM_007055.4(POLR3A):c.*923G>C
NM_007055.4(POLR3A):c.*936T>G rs560141767
NM_007055.4(POLR3A):c.*989G>A rs570095005
NM_007055.4(POLR3A):c.*994C>T
NM_007055.4(POLR3A):c.-15C>T
NM_007055.4(POLR3A):c.1024G>T (p.Val342Phe)
NM_007055.4(POLR3A):c.1041A>C (p.Gly347=) rs886047291
NM_007055.4(POLR3A):c.1049-6A>C
NM_007055.4(POLR3A):c.1051C>T (p.Arg351Ter) rs769791060
NM_007055.4(POLR3A):c.1113C>T (p.Pro371=) rs535797845
NM_007055.4(POLR3A):c.1114G>A (p.Asp372Asn) rs267608673
NM_007055.4(POLR3A):c.1311A>G (p.Arg437=) rs188441842
NM_007055.4(POLR3A):c.1369G>A (p.Gly457Arg) rs768880752
NM_007055.4(POLR3A):c.1400C>T (p.Ser467Leu) rs1589316371
NM_007055.4(POLR3A):c.1409A>G (p.Lys470Arg)
NM_007055.4(POLR3A):c.1432-12T>G rs886047290
NM_007055.4(POLR3A):c.1509T>C (p.Asp503=)
NM_007055.4(POLR3A):c.1566G>T (p.Leu522=) rs12255950
NM_007055.4(POLR3A):c.156A>G (p.Leu52=) rs373974792
NM_007055.4(POLR3A):c.1596G>A (p.Pro532=)
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.1681C>T (p.Arg561Ter) rs1472614573
NM_007055.4(POLR3A):c.1683A>G (p.Arg561=) rs886047288
NM_007055.4(POLR3A):c.1724A>T (p.Lys575Met) rs56214655
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+6T>C
NM_007055.4(POLR3A):c.1771-4T>C rs569766176
NM_007055.4(POLR3A):c.1771-5C>G
NM_007055.4(POLR3A):c.1771-6C>A rs115020338
NM_007055.4(POLR3A):c.1771-6C>G
NM_007055.4(POLR3A):c.1771-6C>T rs115020338
NM_007055.4(POLR3A):c.1771-7C>G rs201314157
NM_007055.4(POLR3A):c.1771-7C>T rs201314157
NM_007055.4(POLR3A):c.1781T>G (p.Leu594Arg) rs886047287
NM_007055.4(POLR3A):c.181-11T>A
NM_007055.4(POLR3A):c.1824C>T (p.Ser608=)
NM_007055.4(POLR3A):c.186G>A (p.Thr62=) rs140901011
NM_007055.4(POLR3A):c.1901A>G (p.Asn634Ser) rs376651203
NM_007055.4(POLR3A):c.1907C>A (p.Ser636Tyr) rs267608676
NM_007055.4(POLR3A):c.1909+18G>A rs267608677
NM_007055.4(POLR3A):c.1909+22G>A rs191875469
NM_007055.4(POLR3A):c.1910-13A>G
NM_007055.4(POLR3A):c.2015G>A (p.Gly672Glu) rs267608670
NM_007055.4(POLR3A):c.2031A>G (p.Ala677=) rs562035665
NM_007055.4(POLR3A):c.2074+9C>G rs886047286
NM_007055.4(POLR3A):c.2081G>A (p.Arg694His)
NM_007055.4(POLR3A):c.2100C>T (p.Ile700=) rs79793998
NM_007055.4(POLR3A):c.2119C>T (p.Gln707Ter) rs780839834
NM_007055.4(POLR3A):c.2171G>A (p.Cys724Tyr) rs267608679
NM_007055.4(POLR3A):c.2196C>T (p.Asn732=) rs148527796
NM_007055.4(POLR3A):c.2247+8C>T rs147475356
NM_007055.4(POLR3A):c.2286C>T (p.His762=) rs16935534
NM_007055.4(POLR3A):c.2287G>A (p.Ala763Thr) rs755825816
NM_007055.4(POLR3A):c.2323_2329del (p.Asn775fs)
NM_007055.4(POLR3A):c.2324A>T (p.Asn775Ile) rs267608672
NM_007055.4(POLR3A):c.2325C>G (p.Asn775Lys) rs1589310432
NM_007055.4(POLR3A):c.2350G>A (p.Gly784Ser)
NM_007055.4(POLR3A):c.2394T>C (p.Cys798=) rs35536566
NM_007055.4(POLR3A):c.240A>C (p.Leu80=) rs12248310
NM_007055.4(POLR3A):c.2423G>A (p.Arg808Gln)
NM_007055.4(POLR3A):c.2433C>T (p.Asp811=) rs757277769
NM_007055.4(POLR3A):c.2472C>T (p.His824=) rs139259717
NM_007055.4(POLR3A):c.2493A>T (p.Lys831Asn)
NM_007055.4(POLR3A):c.2580C>T (p.Asp860=) rs77055595
NM_007055.4(POLR3A):c.2604G>A (p.Thr868=) rs142834115
NM_007055.4(POLR3A):c.2617-1G>A rs181087667
NM_007055.4(POLR3A):c.2617-6C>T rs886047285
NM_007055.4(POLR3A):c.2662C>A (p.Leu888Met)
NM_007055.4(POLR3A):c.2686G>A (p.Asp896Asn)
NM_007055.4(POLR3A):c.2690T>A (p.Ile897Asn) rs267608681
NM_007055.4(POLR3A):c.2779A>G (p.Asn927Asp)
NM_007055.4(POLR3A):c.2784C>A (p.Ile928=)
NM_007055.4(POLR3A):c.282T>C (p.His94=)
NM_007055.4(POLR3A):c.2830G>T (p.Glu944Ter) rs267608674
NM_007055.4(POLR3A):c.2898G>A (p.Leu966=) rs530909493
NM_007055.4(POLR3A):c.2916C>T (p.Phe972=)
NM_007055.4(POLR3A):c.2938A>G (p.Ile980Val) rs146253630
NM_007055.4(POLR3A):c.2976C>T (p.Asn992=) rs143461869
NM_007055.4(POLR3A):c.2993G>A (p.Arg998His)
NM_007055.4(POLR3A):c.2997G>T (p.Val999=) rs12241228
NM_007055.4(POLR3A):c.3013C>T (p.Arg1005Cys) rs267608682
NM_007055.4(POLR3A):c.3014G>A (p.Arg1005His) rs200118797
NM_007055.4(POLR3A):c.3036A>G (p.Glu1012=) rs192102097
NM_007055.4(POLR3A):c.3242+8C>G rs778122446
NM_007055.4(POLR3A):c.3243-1G>A rs1554837782
NM_007055.4(POLR3A):c.3279C>T (p.Asp1093=) rs77540138
NM_007055.4(POLR3A):c.3280G>A (p.Asp1094Asn) rs146861723
NM_007055.4(POLR3A):c.3283G>A (p.Ala1095Thr)
NM_007055.4(POLR3A):c.3336G>A (p.Glu1112=) rs886047284
NM_007055.4(POLR3A):c.3351T>A (p.Ile1117=) rs199559258
NM_007055.4(POLR3A):c.3388G>A (p.Val1130Ile) rs199581222
NM_007055.4(POLR3A):c.3436G>A (p.Ala1146Thr) rs41274600
NM_007055.4(POLR3A):c.3476G>A (p.Arg1159His)
NM_007055.4(POLR3A):c.3583del (p.Asp1195fs) rs747683665
NM_007055.4(POLR3A):c.3594+11A>C rs10509396
NM_007055.4(POLR3A):c.3594+15G>A rs116003372
NM_007055.4(POLR3A):c.3645C>T (p.Asp1215=) rs147591223
NM_007055.4(POLR3A):c.3646G>A (p.Glu1216Lys)
NM_007055.4(POLR3A):c.3660G>A (p.Lys1220=) rs141312907
NM_007055.4(POLR3A):c.3677T>C (p.Leu1226Pro)
NM_007055.4(POLR3A):c.3698G>A (p.Arg1233Gln)
NM_007055.4(POLR3A):c.3733C>T (p.Arg1245Ter)
NM_007055.4(POLR3A):c.3734G>A (p.Arg1245Gln) rs143422889
NM_007055.4(POLR3A):c.3742_3743insACC (p.Ser1248delinsTyrPro) rs267608669
NM_007055.4(POLR3A):c.3771T>C (p.Thr1257=)
NM_007055.4(POLR3A):c.3786C>T (p.Ala1262=)
NM_007055.4(POLR3A):c.3787G>A (p.Ala1263Thr)
NM_007055.4(POLR3A):c.3822C>T (p.Thr1274=) rs149961298
NM_007055.4(POLR3A):c.3846C>T (p.Ile1282=) rs116197727
NM_007055.4(POLR3A):c.3858C>A (p.His1286Gln)
NM_007055.4(POLR3A):c.3858C>T (p.His1286=) rs373306216
NM_007055.4(POLR3A):c.3987T>C (p.Phe1329=) rs16935497
NM_007055.4(POLR3A):c.3990C>T (p.Asp1330=) rs201875398
NM_007055.4(POLR3A):c.3991G>A (p.Ala1331Thr) rs267608680
NM_007055.4(POLR3A):c.4002C>T (p.Phe1334=) rs112788477
NM_007055.4(POLR3A):c.4006C>T (p.Gln1336Ter) rs267608675
NM_007055.4(POLR3A):c.4012G>A (p.Asp1338Asn)
NM_007055.4(POLR3A):c.4024+11T>G rs886047283
NM_007055.4(POLR3A):c.4129C>G (p.Leu1377Val)
NM_007055.4(POLR3A):c.418C>T (p.Arg140Ter) rs267608678
NM_007055.4(POLR3A):c.481G>A (p.Ala161Thr) rs368716943
NM_007055.4(POLR3A):c.577T>A (p.Phe193Ile)
NM_007055.4(POLR3A):c.601del (p.Ile201fs) rs777280350
NM_007055.4(POLR3A):c.621G>A (p.Val207=) rs149192341
NM_007055.4(POLR3A):c.701A>T (p.Asp234Val) rs375183429
NM_007055.4(POLR3A):c.726A>G (p.Pro242=) rs757615089
NM_007055.4(POLR3A):c.741G>A (p.Pro247=) rs12764690
NM_007055.4(POLR3A):c.774T>C (p.Pro258=)
NM_007055.4(POLR3A):c.871G>A (p.Asp291Asn)
NM_007055.4(POLR3A):c.876T>A (p.Val292=) rs886047292
NM_007055.4(POLR3A):c.927C>T (p.Asp309=) rs41274610

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