ClinVar Miner

List of variants studied for Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism

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Total variants: 155
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HGVS dbSNP gnomAD frequency
NM_018082.6(POLR3B):c.3396T>C (p.Asn1132=) rs13561 0.24486
NM_018082.6(POLR3B):c.*347A>G rs2288266 0.24463
NM_018082.6(POLR3B):c.2055T>C (p.Tyr685=) rs10861607 0.22605
NM_018082.6(POLR3B):c.2218A>G (p.Thr740Ala) rs17038460 0.04732
NM_018082.6(POLR3B):c.-95C>T rs17219334 0.02211
NM_018082.6(POLR3B):c.*565G>A rs55715506 0.00886
NM_018082.6(POLR3B):c.-1C>T rs117873765 0.00704
NM_018082.6(POLR3B):c.*582C>G rs75217257 0.00616
NM_018082.6(POLR3B):c.1958A>T (p.Asp653Val) rs144161033 0.00581
NM_018082.6(POLR3B):c.2877C>T (p.His959=) rs148708579 0.00569
NM_018082.6(POLR3B):c.975A>G (p.Glu325=) rs145542203 0.00487
NM_018082.6(POLR3B):c.2136A>G (p.Leu712=) rs139146614 0.00324
NM_018082.6(POLR3B):c.*238T>C rs149535796 0.00214
NM_018082.6(POLR3B):c.1401T>A (p.Gly467=) rs74390456 0.00195
NM_018082.6(POLR3B):c.1873T>C (p.Leu625=) rs139376910 0.00122
NM_018082.6(POLR3B):c.*372A>G rs557970332 0.00106
NM_018082.6(POLR3B):c.-37G>T rs373418815 0.00099
NM_018082.6(POLR3B):c.773A>C (p.Glu258Ala) rs117911920 0.00081
NM_018082.6(POLR3B):c.1464+14G>A rs200061150 0.00076
NM_018082.6(POLR3B):c.*442G>A rs574873455 0.00073
NM_018082.6(POLR3B):c.-106A>G rs560914710 0.00070
NM_018082.6(POLR3B):c.1244T>C (p.Met415Thr) rs199504211 0.00069
NM_018082.6(POLR3B):c.*492A>T rs780838654 0.00066
NM_018082.6(POLR3B):c.2084-15C>T rs181026609 0.00061
NM_018082.6(POLR3B):c.399C>T (p.Ile133=) rs147328031 0.00060
NM_018082.6(POLR3B):c.1702A>G (p.Ile568Val) rs35983209 0.00036
NM_018082.6(POLR3B):c.1568T>A (p.Val523Glu) rs138249161 0.00031
NM_018082.6(POLR3B):c.*584A>G rs886048903 0.00026
NM_018082.6(POLR3B):c.2334G>A (p.Thr778=) rs150800622 0.00026
NM_018082.6(POLR3B):c.2817+30T>A rs142517808 0.00025
NM_018082.6(POLR3B):c.1113T>C (p.Leu371=) rs141885523 0.00019
NM_018082.6(POLR3B):c.*587G>C rs576237770 0.00014
NM_018082.6(POLR3B):c.1956-8C>T rs770497469 0.00014
NM_018082.6(POLR3B):c.1707T>C (p.Asn569=) rs17038450 0.00013
NM_018082.6(POLR3B):c.2084-6A>G rs747912710 0.00011
NM_018082.6(POLR3B):c.615-3T>C rs368511518 0.00010
NM_018082.6(POLR3B):c.2944A>G (p.Asn982Asp) rs368213717 0.00009
NM_018082.6(POLR3B):c.3390G>C (p.Lys1130Asn) rs201527706 0.00009
NM_018082.6(POLR3B):c.*60A>G rs560425343 0.00008
NM_018082.6(POLR3B):c.2179T>C (p.Leu727=) rs375960295 0.00007
NM_018082.6(POLR3B):c.106-3T>C rs368216350 0.00006
NM_018082.6(POLR3B):c.2407A>G (p.Ile803Val) rs372387469 0.00006
NM_018082.6(POLR3B):c.2933G>A (p.Arg978His) rs117293015 0.00006
NM_018082.6(POLR3B):c.3147A>G (p.Glu1049=) rs772975950 0.00005
NM_018082.6(POLR3B):c.3273-7G>A rs373580359 0.00005
NM_018082.6(POLR3B):c.1988C>T (p.Thr663Ile) rs755312623 0.00004
NM_018082.6(POLR3B):c.2303G>A (p.Arg768His) rs267608687 0.00004
NM_018082.6(POLR3B):c.3008A>G (p.Tyr1003Cys) rs368953286 0.00004
NM_018082.6(POLR3B):c.3018C>T (p.Pro1006=) rs373346251 0.00004
NM_018082.6(POLR3B):c.3098+8A>G rs753390602 0.00004
NM_018082.6(POLR3B):c.1018C>T (p.Arg340Ter) rs148879912 0.00003
NM_018082.6(POLR3B):c.1648C>T (p.Arg550Ter) rs267608688 0.00003
NM_018082.6(POLR3B):c.2905G>A (p.Val969Met) rs200477676 0.00003
NM_018082.6(POLR3B):c.1263+2T>C rs774526181 0.00002
NM_018082.6(POLR3B):c.1857-12A>G rs528038639 0.00002
NM_018082.6(POLR3B):c.2731G>A (p.Val911Ile) rs770365711 0.00002
NM_018082.6(POLR3B):c.2774C>T (p.Pro925Leu) rs775141057 0.00002
NM_018082.6(POLR3B):c.2899A>C (p.Ser967Arg) rs200865021 0.00002
NM_018082.6(POLR3B):c.846+14T>C rs774557688 0.00002
NM_018082.5(POLR3B):c.*653C>T rs1252707400 0.00001
NM_018082.6(POLR3B):c.*205G>C rs2038746494 0.00001
NM_018082.6(POLR3B):c.*98C>T rs532224514 0.00001
NM_018082.6(POLR3B):c.1038A>G (p.Gln346=) rs886048898 0.00001
NM_018082.6(POLR3B):c.1253C>T (p.Ala418Val) rs2037453602 0.00001
NM_018082.6(POLR3B):c.1263+1G>A rs1565893138 0.00001
NM_018082.6(POLR3B):c.1324C>T (p.Arg442Cys) rs1442212683 0.00001
NM_018082.6(POLR3B):c.1464+1G>A rs1158662109 0.00001
NM_018082.6(POLR3B):c.1602A>G (p.Pro534=) rs200983703 0.00001
NM_018082.6(POLR3B):c.1615G>T (p.Val539Phe) rs1171962004 0.00001
NM_018082.6(POLR3B):c.1857-2A>C rs267608686 0.00001
NM_018082.6(POLR3B):c.1900G>A (p.Asp634Asn) rs781671613 0.00001
NM_018082.6(POLR3B):c.1999G>A (p.Val667Met) rs756536922 0.00001
NM_018082.6(POLR3B):c.2104C>T (p.Arg702Ter) rs201401034 0.00001
NM_018082.6(POLR3B):c.2278G>A (p.Ala760Thr) rs146513209 0.00001
NM_018082.6(POLR3B):c.2302C>T (p.Arg768Cys) rs371453512 0.00001
NM_018082.6(POLR3B):c.2413C>T (p.Arg805Ter) rs1437442253 0.00001
NM_018082.6(POLR3B):c.2570+1G>A rs753943393 0.00001
NM_018082.6(POLR3B):c.2818-1G>T rs1057520785 0.00001
NM_018082.6(POLR3B):c.2843C>T (p.Ala948Val) rs779604405 0.00001
NM_018082.6(POLR3B):c.3035T>C (p.Leu1012Pro) rs749670593 0.00001
NM_018082.6(POLR3B):c.3087C>T (p.Ala1029=) rs886048901 0.00001
NM_018082.6(POLR3B):c.308G>A (p.Arg103His) rs780148992 0.00001
NM_018082.6(POLR3B):c.3105C>T (p.Pro1035=) rs778281040 0.00001
NM_018082.6(POLR3B):c.3173A>G (p.Tyr1058Cys) rs751459271 0.00001
NM_018082.6(POLR3B):c.3317T>C (p.Ile1106Thr) rs765382317 0.00001
NM_018082.6(POLR3B):c.423T>C (p.Arg141=) rs886048896 0.00001
NM_018082.6(POLR3B):c.665G>A (p.Arg222Gln) rs2036738887 0.00001
NM_018082.6(POLR3B):c.733G>A (p.Val245Ile) rs751975109 0.00001
NM_018082.6(POLR3B):c.780C>T (p.His260=) rs937446537 0.00001
NM_018082.6(POLR3B):c.966+14C>T rs779555589 0.00001
NM_018082.6(POLR3B):c.967-9G>A rs754613008 0.00001
NM_018082.6(POLR3B):c.985C>T (p.Arg329Ter) rs758437925 0.00001
NM_018082.5(POLR3B):c.[1568T>A];[1988C>T]
NM_018082.6(POLR3B):c.-39G>T rs140312606
NM_018082.6(POLR3B):c.1028T>C (p.Ile343Thr)
NM_018082.6(POLR3B):c.1101+1G>C rs773891661
NM_018082.6(POLR3B):c.1112_1113del (p.Leu371fs) rs2037451732
NM_018082.6(POLR3B):c.1263+5G>A
NM_018082.6(POLR3B):c.1325G>T (p.Arg442Leu) rs201153027
NM_018082.6(POLR3B):c.1346T>C (p.Leu449Pro) rs2137002042
NM_018082.6(POLR3B):c.1464+1G>T
NM_018082.6(POLR3B):c.1477G>T (p.Val493Phe) rs1396040670
NM_018082.6(POLR3B):c.1508C>A (p.Thr503Lys) rs267608683
NM_018082.6(POLR3B):c.1533del (p.Ile511fs) rs267608684
NM_018082.6(POLR3B):c.1579T>C (p.Cys527Arg) rs2137003969
NM_018082.6(POLR3B):c.1580G>T (p.Cys527Phe)
NM_018082.6(POLR3B):c.1612_1614del (p.Leu538del) rs797045895
NM_018082.6(POLR3B):c.1627+7A>G
NM_018082.6(POLR3B):c.1670A>G (p.Asn557Ser) rs2037539502
NM_018082.6(POLR3B):c.1688G>A (p.Arg563Lys) rs2137005245
NM_018082.6(POLR3B):c.1763del (p.Asp588fs) rs2137005362
NM_018082.6(POLR3B):c.1776A>T (p.Leu592=) rs201223367
NM_018082.6(POLR3B):c.1788C>A (p.Tyr596Ter) rs2137008757
NM_018082.6(POLR3B):c.1939G>A (p.Glu647Lys) rs755658678
NM_018082.6(POLR3B):c.2083+1G>A rs7133068
NM_018082.6(POLR3B):c.2084-3092_2294-553del
NM_018082.6(POLR3B):c.2099A>C (p.Asn700Thr) rs2037839447
NM_018082.6(POLR3B):c.2180T>C (p.Leu727Ser) rs758867273
NM_018082.6(POLR3B):c.2190del (p.Phe730fs) rs2137027936
NM_018082.6(POLR3B):c.2293+1G>A
NM_018082.6(POLR3B):c.2301G>T (p.Gly767=) rs2037875469
NM_018082.6(POLR3B):c.2449C>T (p.Pro817Ser) rs886048899
NM_018082.6(POLR3B):c.2461G>A (p.Val821Ile) rs1218609049
NM_018082.6(POLR3B):c.2476G>A (p.Val826Met)
NM_018082.6(POLR3B):c.2511del (p.Ile838fs)
NM_018082.6(POLR3B):c.2669G>T (p.Arg890Leu) rs750694928
NM_018082.6(POLR3B):c.2670T>A (p.Arg890=) rs886048900
NM_018082.6(POLR3B):c.2683G>A (p.Asp895Asn) rs1428989000
NM_018082.6(POLR3B):c.2686A>T (p.Lys896Ter) rs267608685
NM_018082.6(POLR3B):c.2707del (p.Gln903fs) rs2137036995
NM_018082.6(POLR3B):c.2774C>A (p.Pro925Gln) rs775141057
NM_018082.6(POLR3B):c.2778C>G (p.Asp926Glu) rs267608689
NM_018082.6(POLR3B):c.2809C>T (p.Arg937Ter)
NM_018082.6(POLR3B):c.2823G>A (p.Gly941=) rs757733299
NM_018082.6(POLR3B):c.2918G>T (p.Cys973Phe) rs2137076093
NM_018082.6(POLR3B):c.2920G>T (p.Glu974Ter) rs2137076107
NM_018082.6(POLR3B):c.2929G>C (p.Val977Leu) rs199545845
NM_018082.6(POLR3B):c.3005T>C (p.Ile1002Thr) rs2038598006
NM_018082.6(POLR3B):c.303+1G>A rs2036573956
NM_018082.6(POLR3B):c.3071C>T (p.Ala1024Val) rs2137084674
NM_018082.6(POLR3B):c.312G>T (p.Leu104Phe) rs2136887072
NM_018082.6(POLR3B):c.3184A>G (p.Met1062Val)
NM_018082.6(POLR3B):c.3334C>G (p.Leu1112Val) rs886048902
NM_018082.6(POLR3B):c.3349C>G (p.Leu1117Val) rs2137097735
NM_018082.6(POLR3B):c.3352C>T (p.Gln1118Ter) rs2137097739
NM_018082.6(POLR3B):c.664C>T (p.Arg222Ter)
NM_018082.6(POLR3B):c.685A>T (p.Thr229Ser) rs886048897
NM_018082.6(POLR3B):c.745C>A (p.Gln249Lys)
NM_018082.6(POLR3B):c.745C>G (p.Gln249Glu) rs2036932047
NM_018082.6(POLR3B):c.771A>T (p.Thr257=) rs201822852
NM_018082.6(POLR3B):c.79T>C (p.Trp27Arg) rs2136879253
NM_018082.6(POLR3B):c.802A>G (p.Ser268Gly) rs2136917152
NM_018082.6(POLR3B):c.832_833dup (p.Thr279fs) rs1261509815
NM_018082.6(POLR3B):c.967-15A>G rs764250049
NM_018082.6(POLR3B):c.986G>A (p.Arg329Gln)

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