ClinVar Miner

List of variants reported as uncertain significance for asphyxiating thoracic dystrophy 3 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 290
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HGVS dbSNP gnomAD frequency
NM_020779.4(WDR35):c.*813A>T rs148210550 0.00290
NM_001377.3(DYNC2H1):c.1484A>C (p.Lys495Thr) rs202233363 0.00255
NM_001377.3(DYNC2H1):c.*558T>C rs143796055 0.00247
NM_020779.4(WDR35):c.355C>T (p.Arg119Cys) rs140308808 0.00221
NM_020779.4(WDR35):c.*3225G>A rs189820516 0.00198
NM_020779.4(WDR35):c.*3235C>A rs186978842 0.00198
NM_001377.3(DYNC2H1):c.*388A>T rs113577674 0.00192
NM_001377.3(DYNC2H1):c.3682C>A (p.Leu1228Ile) rs189806840 0.00189
NM_020779.4(WDR35):c.*997T>C rs536197643 0.00183
NM_020779.4(WDR35):c.*1582C>T rs757203175 0.00162
NM_020779.4(WDR35):c.3279G>C (p.Gln1093His) rs148436608 0.00161
NM_020779.4(WDR35):c.*2160T>C rs192966128 0.00144
NM_001377.3(DYNC2H1):c.3181C>G (p.Leu1061Val) rs200466720 0.00140
NM_020779.4(WDR35):c.1183A>T (p.Asn395Tyr) rs143343508 0.00135
NM_001377.3(DYNC2H1):c.8481A>C (p.Thr2827=) rs370627443 0.00129
NM_020779.4(WDR35):c.*1006G>A rs80292673 0.00098
NM_020779.4(WDR35):c.*1668A>C rs191316348 0.00098
NM_020779.4(WDR35):c.437-13T>C rs367802842 0.00098
NM_020779.4(WDR35):c.507A>G (p.Lys169=) rs200495720 0.00094
NM_020779.4(WDR35):c.2678T>C (p.Leu893Ser) rs151047156 0.00093
NM_001377.3(DYNC2H1):c.6047A>G (p.Tyr2016Cys) rs200190291 0.00090
NM_001377.3(DYNC2H1):c.1134+8A>G rs138290301 0.00086
NM_001377.3(DYNC2H1):c.10845G>A (p.Pro3615=) rs187451323 0.00081
NM_001377.3(DYNC2H1):c.5695G>A (p.Val1899Ile) rs150887098 0.00081
NM_001377.3(DYNC2H1):c.2550G>A (p.Leu850=) rs375307767 0.00077
NM_020779.4(WDR35):c.853A>T (p.Ile285Phe) rs200059077 0.00073
NM_001377.3(DYNC2H1):c.3170G>A (p.Arg1057His) rs191381310 0.00069
NM_020779.4(WDR35):c.*2620G>A rs545271105 0.00068
NM_020779.4(WDR35):c.*2797G>A rs528776835 0.00066
NM_001377.3(DYNC2H1):c.5449A>G (p.Met1817Val) rs200208000 0.00064
NM_020779.4(WDR35):c.*2619C>T rs565144558 0.00064
NM_001377.3(DYNC2H1):c.12039+15A>G rs184350782 0.00059
NM_001377.3(DYNC2H1):c.4312T>C (p.Leu1438=) rs367841359 0.00055
NM_001377.3(DYNC2H1):c.1774C>T (p.Leu592Phe) rs180861816 0.00052
NM_001377.3(DYNC2H1):c.33C>T (p.Leu11=) rs373977008 0.00051
NM_001377.3(DYNC2H1):c.4192A>C (p.Arg1398=) rs371259464 0.00051
NM_020779.4(WDR35):c.1072G>A (p.Val358Ile) rs151227688 0.00051
NM_001377.3(DYNC2H1):c.9865G>C (p.Glu3289Gln) rs200326353 0.00050
NM_020779.4(WDR35):c.1051C>G (p.Pro351Ala) rs140753861 0.00045
NM_020779.4(WDR35):c.3026C>G (p.Thr1009Arg) rs201153804 0.00045
NM_001377.3(DYNC2H1):c.12082G>T (p.Gly4028Cys) rs202216852 0.00044
NM_001377.3(DYNC2H1):c.1007C>T (p.Ala336Val) rs182506343 0.00043
NM_001377.3(DYNC2H1):c.1350C>T (p.Asp450=) rs190106816 0.00043
NM_001377.3(DYNC2H1):c.3419G>T (p.Gly1140Val) rs201043335 0.00042
NM_001377.3(DYNC2H1):c.6769G>A (p.Gly2257Ser) rs199897162 0.00041
NM_001377.3(DYNC2H1):c.2244C>T (p.His748=) rs373707570 0.00039
NM_001377.3(DYNC2H1):c.5511C>T (p.Asp1837=) rs201953670 0.00038
NM_001377.3(DYNC2H1):c.3665G>A (p.Gly1222Glu) rs201194631 0.00034
NM_001377.3(DYNC2H1):c.8293T>G (p.Phe2765Val) rs199503535 0.00034
NM_020779.4(WDR35):c.*1253C>G rs368665906 0.00031
NM_020779.4(WDR35):c.2965-4G>T rs199696980 0.00031
NM_001377.3(DYNC2H1):c.8365T>C (p.Phe2789Leu) rs184910011 0.00030
NM_020779.4(WDR35):c.*795C>T rs190700326 0.00030
NM_020779.4(WDR35):c.2964+10C>A rs201207790 0.00030
NM_001377.3(DYNC2H1):c.5335-11T>G rs181963253 0.00029
NM_001006657.2(WDR35):c.1226C>T (p.Thr409Met) rs143430766 0.00027
NM_020779.4(WDR35):c.*1413C>T rs567295822 0.00027
NM_001377.3(DYNC2H1):c.10199G>A (p.Arg3400Gln) rs775615484 0.00024
NM_001377.3(DYNC2H1):c.5642G>A (p.Arg1881Lys) rs199541807 0.00024
NM_001377.3(DYNC2H1):c.8311+10A>G rs376842066 0.00024
NM_001377.3(DYNC2H1):c.10043-7T>A rs376067770 0.00022
NM_001377.3(DYNC2H1):c.*293A>G rs540596724 0.00021
NM_001377.3(DYNC2H1):c.3735C>T (p.Ala1245=) rs377584612 0.00021
NM_001377.3(DYNC2H1):c.5508A>G (p.Lys1836=) rs201305322 0.00021
NM_020779.4(WDR35):c.*1370G>A rs1039776865 0.00021
NM_001377.3(DYNC2H1):c.12909C>A (p.Phe4303Leu) rs191971137 0.00019
NM_001377.3(DYNC2H1):c.1384C>T (p.Arg462Trp) rs768459821 0.00019
NM_001377.3(DYNC2H1):c.2935C>T (p.Arg979Trp) rs772439717 0.00019
NM_001377.3(DYNC2H1):c.366+10G>A rs200257097 0.00019
NM_001377.3(DYNC2H1):c.4959T>C (p.Tyr1653=) rs201863754 0.00019
NM_020779.4(WDR35):c.2065C>T (p.Arg689Cys) rs140196566 0.00019
NM_001377.3(DYNC2H1):c.7462G>A (p.Asp2488Asn) rs201825699 0.00017
NM_001377.3(DYNC2H1):c.9568-13C>G rs189730787 0.00016
NM_020779.4(WDR35):c.*1062G>A rs778834686 0.00016
NM_001377.3(DYNC2H1):c.6307T>A (p.Ser2103Thr) rs201003494 0.00015
NM_020779.4(WDR35):c.2999A>T (p.Glu1000Val) rs370951527 0.00015
NM_001377.3(DYNC2H1):c.10261A>G (p.Lys3421Glu) rs372204188 0.00014
NM_001377.3(DYNC2H1):c.3128G>A (p.Arg1043His) rs372627366 0.00014
NM_001377.3(DYNC2H1):c.7209G>A (p.Val2403=) rs371948128 0.00014
NM_001377.3(DYNC2H1):c.3643C>T (p.Arg1215Cys) rs746768637 0.00013
NM_001377.3(DYNC2H1):c.5793G>C (p.Leu1931Phe) rs185504536 0.00013
NM_001377.3(DYNC2H1):c.6558C>T (p.Asp2186=) rs199675558 0.00013
NM_001377.3(DYNC2H1):c.10550G>A (p.Arg3517His) rs188113889 0.00012
NM_001377.3(DYNC2H1):c.11185C>T (p.Pro3729Ser) rs199766341 0.00012
NM_001377.3(DYNC2H1):c.9231+12G>A rs369045696 0.00012
NM_001377.3(DYNC2H1):c.291T>A (p.Val97=) rs377529350 0.00011
NM_001377.3(DYNC2H1):c.6139+7C>T rs200749262 0.00011
NM_001377.3(DYNC2H1):c.7828G>A (p.Val2610Ile) rs566035585 0.00011
NM_020779.4(WDR35):c.*2618G>A rs563586298 0.00011
NM_001377.3(DYNC2H1):c.10876G>A (p.Val3626Met) rs201852557 0.00010
NM_001377.3(DYNC2H1):c.8585G>A (p.Cys2862Tyr) rs368447956 0.00010
NM_001377.3(DYNC2H1):c.2479A>G (p.Ile827Val) rs201224700 0.00009
NM_001377.3(DYNC2H1):c.8041A>G (p.Ile2681Val) rs201540484 0.00009
NM_020779.4(WDR35):c.*2559A>G rs751743368 0.00009
NM_020779.4(WDR35):c.*2887T>C rs749198501 0.00009
NM_020779.4(WDR35):c.*712A>T rs572859023 0.00009
NM_001377.3(DYNC2H1):c.12389A>G (p.Lys4130Arg) rs368043505 0.00008
NM_001377.3(DYNC2H1):c.1662-3T>C rs548328948 0.00008
NM_001377.3(DYNC2H1):c.1732C>G (p.Arg578Gly) rs776317704 0.00008
NM_001377.3(DYNC2H1):c.7597C>T (p.Arg2533Cys) rs754889986 0.00008
NM_020779.4(WDR35):c.*563T>G rs561642193 0.00008
NM_020779.4(WDR35):c.66G>T (p.Trp22Cys) rs201860485 0.00008
NM_001377.3(DYNC2H1):c.*435A>G rs1026849744 0.00007
NM_001377.3(DYNC2H1):c.11287G>A (p.Ala3763Thr) rs780426783 0.00007
NM_020779.4(WDR35):c.*1146T>C rs1036362475 0.00007
NM_020779.4(WDR35):c.*1207C>G rs1466981368 0.00007
NM_020779.4(WDR35):c.3460C>G (p.Gln1154Glu) rs774768083 0.00007
NM_001377.3(DYNC2H1):c.12854A>G (p.Asp4285Gly) rs886047583 0.00006
NM_001377.3(DYNC2H1):c.3138C>G (p.Ile1046Met) rs377076883 0.00006
NM_001377.3(DYNC2H1):c.8539+5T>C rs765643615 0.00006
NM_001377.3(DYNC2H1):c.9349G>A (p.Glu3117Lys) rs200870508 0.00006
NM_020779.4(WDR35):c.1250A>T (p.Asp417Val) rs371757004 0.00006
NM_020779.4(WDR35):c.1376G>A (p.Arg459Gln) rs146380332 0.00006
NM_020779.4(WDR35):c.2137G>A (p.Asp713Asn) rs778732776 0.00006
NM_020779.4(WDR35):c.3193T>A (p.Cys1065Ser) rs200258619 0.00006
NM_001377.3(DYNC2H1):c.12456+7C>T rs372189534 0.00005
NM_001377.3(DYNC2H1):c.12817A>C (p.Thr4273Pro) rs374409204 0.00005
NM_020779.4(WDR35):c.*1957C>T rs947201612 0.00005
NM_020779.4(WDR35):c.215-4C>G rs369080910 0.00005
NM_020779.4(WDR35):c.2515A>G (p.Ile839Val) rs763618858 0.00005
NM_020779.4(WDR35):c.2836G>A (p.Glu946Lys) rs779009587 0.00005
NM_001377.3(DYNC2H1):c.11929A>C (p.Ile3977Leu) rs757571550 0.00004
NM_001377.3(DYNC2H1):c.391G>C (p.Asp131His) rs759690887 0.00004
NM_001377.3(DYNC2H1):c.4900A>G (p.Met1634Val) rs753296481 0.00004
NM_001377.3(DYNC2H1):c.8102C>T (p.Ala2701Val) rs765998830 0.00004
NM_001377.3(DYNC2H1):c.9217T>C (p.Ser3073Pro) rs199970220 0.00004
NM_001377.3(DYNC2H1):c.9585G>C (p.Glu3195Asp) rs758118161 0.00004
NM_020779.4(WDR35):c.*1219G>A rs1003005484 0.00004
NM_020779.4(WDR35):c.*2989C>T rs886055392 0.00004
NM_020779.4(WDR35):c.*3269G>A rs886055391 0.00004
NM_020779.4(WDR35):c.1029T>C (p.Thr343=) rs536150588 0.00004
NM_020779.4(WDR35):c.1053T>C (p.Pro351=) rs74385826 0.00004
NM_020779.4(WDR35):c.1697C>T (p.Thr566Met) rs780159239 0.00004
NM_020779.4(WDR35):c.3136G>C (p.Asp1046His) rs200760434 0.00004
NM_020779.4(WDR35):c.798C>T (p.Ser266=) rs141118263 0.00004
NM_020779.4(WDR35):c.958C>A (p.Leu320Ile) rs573430534 0.00004
NM_001377.3(DYNC2H1):c.11649+4A>T rs372714647 0.00003
NM_001377.3(DYNC2H1):c.11942G>A (p.Arg3981His) rs755554260 0.00003
NM_001377.3(DYNC2H1):c.12410C>G (p.Pro4137Arg) rs761765709 0.00003
NM_001377.3(DYNC2H1):c.12736C>T (p.Leu4246Phe) rs1406947485 0.00003
NM_001377.3(DYNC2H1):c.2828A>G (p.His943Arg) rs747923490 0.00003
NM_001377.3(DYNC2H1):c.4002G>A (p.Glu1334=) rs886047562 0.00003
NM_001377.3(DYNC2H1):c.5791T>A (p.Leu1931Met) rs776705698 0.00003
NM_001377.3(DYNC2H1):c.8473A>G (p.Ser2825Gly) rs886047569 0.00003
NM_001377.3(DYNC2H1):c.8780C>T (p.Thr2927Met) rs752196931 0.00003
NM_020779.4(WDR35):c.*1038C>G rs145549829 0.00003
NM_020779.4(WDR35):c.*1218C>T rs990547735 0.00003
NM_020779.4(WDR35):c.*1821A>G rs978221263 0.00003
NM_020779.4(WDR35):c.1260A>G (p.Pro420=) rs573958749 0.00003
NM_020779.4(WDR35):c.2984G>T (p.Gly995Val) rs376284452 0.00003
NM_020779.4(WDR35):c.766G>A (p.Val256Ile) rs745580829 0.00003
NM_001377.3(DYNC2H1):c.11139A>G (p.Leu3713=) rs778092263 0.00002
NM_001377.3(DYNC2H1):c.11578C>A (p.Arg3860=) rs777253444 0.00002
NM_001377.3(DYNC2H1):c.11679A>C (p.Leu3893Phe) rs748607783 0.00002
NM_001377.3(DYNC2H1):c.11742A>G (p.Gln3914=) rs769560873 0.00002
NM_001377.3(DYNC2H1):c.12703A>T (p.Asn4235Tyr) rs886047580 0.00002
NM_001377.3(DYNC2H1):c.2312A>C (p.Asn771Thr) rs780723018 0.00002
NM_001377.3(DYNC2H1):c.2345+9T>C rs772122634 0.00002
NM_001377.3(DYNC2H1):c.2385C>G (p.Ile795Met) rs780228819 0.00002
NM_001377.3(DYNC2H1):c.4127+10A>G rs369188420 0.00002
NM_001377.3(DYNC2H1):c.4561A>G (p.Thr1521Ala) rs756098102 0.00002
NM_001377.3(DYNC2H1):c.4597C>A (p.Leu1533Met) rs184788922 0.00002
NM_001377.3(DYNC2H1):c.4918T>C (p.Cys1640Arg) rs768540376 0.00002
NM_001377.3(DYNC2H1):c.5212G>A (p.Gly1738Ser) rs370669724 0.00002
NM_001377.3(DYNC2H1):c.7140+8A>G rs768364364 0.00002
NM_020779.4(WDR35):c.*297A>G rs886891593 0.00002
NM_020779.4(WDR35):c.*305T>C rs1404107870 0.00002
NM_020779.4(WDR35):c.2107A>G (p.Thr703Ala) rs886055405 0.00002
NM_001377.3(DYNC2H1):c.*270A>G rs913800042 0.00001
NM_001377.3(DYNC2H1):c.*321T>C rs1945677807 0.00001
NM_001377.3(DYNC2H1):c.-33C>T rs547159267 0.00001
NM_001377.3(DYNC2H1):c.1000-7A>G rs745325616 0.00001
NM_001377.3(DYNC2H1):c.10491G>C (p.Glu3497Asp) rs886047575 0.00001
NM_001377.3(DYNC2H1):c.10532A>C (p.Lys3511Thr) rs772570923 0.00001
NM_001377.3(DYNC2H1):c.11253C>T (p.His3751=) rs760751244 0.00001
NM_001377.3(DYNC2H1):c.11310T>G (p.Cys3770Trp) rs771899759 0.00001
NM_001377.3(DYNC2H1):c.11416C>T (p.Arg3806Cys) rs754753584 0.00001
NM_001377.3(DYNC2H1):c.11635A>C (p.Asn3879His) rs1396615880 0.00001
NM_001377.3(DYNC2H1):c.11970C>T (p.Asp3990=) rs370818346 0.00001
NM_001377.3(DYNC2H1):c.12495T>C (p.Ser4165=) rs202199079 0.00001
NM_001377.3(DYNC2H1):c.12622C>T (p.Leu4208=) rs752163457 0.00001
NM_001377.3(DYNC2H1):c.12693A>G (p.Gln4231=) rs371640317 0.00001
NM_001377.3(DYNC2H1):c.1320A>C (p.Glu440Asp) rs760475860 0.00001
NM_001377.3(DYNC2H1):c.1506T>C (p.Ile502=) rs754192939 0.00001
NM_001377.3(DYNC2H1):c.2439T>C (p.Phe813=) rs143172984 0.00001
NM_001377.3(DYNC2H1):c.2470A>G (p.Ile824Val) rs758399640 0.00001
NM_001377.3(DYNC2H1):c.2574+9C>T rs777840832 0.00001
NM_001377.3(DYNC2H1):c.2922T>C (p.Ser974=) rs761013187 0.00001
NM_001377.3(DYNC2H1):c.337C>T (p.Arg113Trp) rs745569868 0.00001
NM_001377.3(DYNC2H1):c.3744A>G (p.Lys1248=) rs994362377 0.00001
NM_001377.3(DYNC2H1):c.3920G>A (p.Cys1307Tyr) rs201819231 0.00001
NM_001377.3(DYNC2H1):c.4611+14C>T rs766124250 0.00001
NM_001377.3(DYNC2H1):c.4718A>C (p.Gln1573Pro) rs1455268008 0.00001
NM_001377.3(DYNC2H1):c.4923T>C (p.Cys1641=) rs376188702 0.00001
NM_001377.3(DYNC2H1):c.539T>C (p.Ile180Thr) rs886047559 0.00001
NM_001377.3(DYNC2H1):c.5472T>C (p.Leu1824=) rs886047564 0.00001
NM_001377.3(DYNC2H1):c.5512G>A (p.Ala1838Thr) rs777912444 0.00001
NM_001377.3(DYNC2H1):c.5873A>G (p.Gln1958Arg) rs1301448943 0.00001
NM_001377.3(DYNC2H1):c.6372T>C (p.Ser2124=) rs1386325793 0.00001
NM_001377.3(DYNC2H1):c.6691T>A (p.Tyr2231Asn) rs1410904165 0.00001
NM_001377.3(DYNC2H1):c.6849T>G (p.Thr2283=) rs886047565 0.00001
NM_001377.3(DYNC2H1):c.7031G>A (p.Arg2344His) rs775250788 0.00001
NM_001377.3(DYNC2H1):c.7304G>A (p.Arg2435Lys) rs752086730 0.00001
NM_001377.3(DYNC2H1):c.7782A>G (p.Pro2594=) rs886047566 0.00001
NM_001377.3(DYNC2H1):c.8946+10A>C rs550521675 0.00001
NM_001377.3(DYNC2H1):c.8991C>T (p.Pro2997=) rs765905797 0.00001
NM_001377.3(DYNC2H1):c.9384G>A (p.Arg3128=) rs930832327 0.00001
NM_001377.3(DYNC2H1):c.9391G>A (p.Glu3131Lys) rs983700534 0.00001
NM_001377.3(DYNC2H1):c.9463G>A (p.Ala3155Thr) rs375920909 0.00001
NM_001377.3(DYNC2H1):c.9577A>G (p.Ile3193Val) rs886047571 0.00001
NM_020779.4(WDR35):c.*2228C>T rs1669828408 0.00001
NM_020779.4(WDR35):c.*2725G>T rs886055396 0.00001
NM_020779.4(WDR35):c.*2726A>G rs886055395 0.00001
NM_020779.4(WDR35):c.*2748G>T rs886055394 0.00001
NM_020779.4(WDR35):c.*380G>A rs886055401 0.00001
NM_020779.4(WDR35):c.*747C>T rs1451842817 0.00001
NM_020779.4(WDR35):c.1348A>C (p.Thr450Pro) rs771656961 0.00001
NM_020779.4(WDR35):c.1871T>G (p.Ile624Ser) rs139252416 0.00001
NM_020779.4(WDR35):c.2165G>A (p.Arg722His) rs758991146 0.00001
NM_020779.4(WDR35):c.2194A>C (p.Lys732Gln) rs748476979 0.00001
NM_020779.4(WDR35):c.2220C>T (p.Phe740=) rs535522970 0.00001
NM_020779.4(WDR35):c.2267+9T>C rs376307803 0.00001
NM_020779.4(WDR35):c.2268-11T>G rs745664606 0.00001
NM_020779.4(WDR35):c.2298G>A (p.Leu766=) rs1287745296 0.00001
NM_020779.4(WDR35):c.847G>A (p.Val283Met) rs576085633 0.00001
NM_020779.4(WDR35):c.976A>G (p.Ile326Val) rs1438742194 0.00001
NM_001006657.1(WDR35):c.*3299C>T rs1669790644
NM_001377.3(DYNC2H1):c.*52A>T rs1945671200
NM_001377.3(DYNC2H1):c.-148T>C rs1858000065
NM_001377.3(DYNC2H1):c.10021A>C (p.Arg3341=) rs886047573
NM_001377.3(DYNC2H1):c.10152T>G (p.Ala3384=) rs886047574
NM_001377.3(DYNC2H1):c.10230T>C (p.His3410=) rs1279419542
NM_001377.3(DYNC2H1):c.10326+6A>G rs750262824
NM_001377.3(DYNC2H1):c.10466G>T (p.Arg3489Leu) rs755858936
NM_001377.3(DYNC2H1):c.12416A>G (p.Gln4139Arg) rs1793493
NM_001377.3(DYNC2H1):c.12648+5T>C rs754669196
NM_001377.3(DYNC2H1):c.12704A>G (p.Asn4235Ser) rs886047581
NM_001377.3(DYNC2H1):c.12766G>C (p.Asp4256His) rs772516163
NM_001377.3(DYNC2H1):c.1484A>G (p.Lys495Arg) rs202233363
NM_001377.3(DYNC2H1):c.196-13T>C rs765533229
NM_001377.3(DYNC2H1):c.2106+5A>G rs886047560
NM_001377.3(DYNC2H1):c.2533G>A (p.Asp845Asn) rs879676957
NM_001377.3(DYNC2H1):c.2669A>T (p.Lys890Ile) rs1860062786
NM_001377.3(DYNC2H1):c.266A>G (p.Glu89Gly) rs886047558
NM_001377.3(DYNC2H1):c.282C>A (p.Asn94Lys) rs1858224158
NM_001377.3(DYNC2H1):c.3046G>C (p.Asp1016His) rs867893518
NM_001377.3(DYNC2H1):c.3573+5G>T rs886047561
NM_001377.3(DYNC2H1):c.3662G>C (p.Arg1221Thr) rs12794914
NM_001377.3(DYNC2H1):c.3685C>G (p.Leu1229Val) rs1860772300
NM_001377.3(DYNC2H1):c.3794G>A (p.Arg1265His) rs200635842
NM_001377.3(DYNC2H1):c.4497G>T (p.Trp1499Cys) rs886047563
NM_001377.3(DYNC2H1):c.4808T>G (p.Ile1603Ser) rs541231234
NM_001377.3(DYNC2H1):c.5913G>C (p.Gln1971His) rs375160131
NM_001377.3(DYNC2H1):c.6931A>G (p.Thr2311Ala) rs760509494
NM_001377.3(DYNC2H1):c.7032T>A (p.Arg2344=) rs760382908
NM_001377.3(DYNC2H1):c.7085A>G (p.Asn2362Ser) rs1862122773
NM_001377.3(DYNC2H1):c.7293-13C>G rs372796223
NM_001377.3(DYNC2H1):c.7452T>G (p.Phe2484Leu) rs1862311130
NM_001377.3(DYNC2H1):c.7625C>T (p.Ala2542Val) rs1862343744
NM_001377.3(DYNC2H1):c.7837A>G (p.Lys2613Glu) rs1862571427
NM_001377.3(DYNC2H1):c.8149T>C (p.Phe2717Leu) rs1862657961
NM_001377.3(DYNC2H1):c.8236C>A (p.Pro2746Thr) rs1862808181
NM_001377.3(DYNC2H1):c.8351C>T (p.Ser2784Phe) rs886047568
NM_001377.3(DYNC2H1):c.8504A>T (p.Asp2835Val) rs540042560
NM_001377.3(DYNC2H1):c.9122G>A (p.Arg3041Lys) rs886047570
NM_001377.3(DYNC2H1):c.9968C>G (p.Thr3323Ser) rs1297244083
NM_020779.4(WDR35):c.*1005C>A rs746476400
NM_020779.4(WDR35):c.*1270C>T rs568999408
NM_020779.4(WDR35):c.*1461A>C rs886055400
NM_020779.4(WDR35):c.*1637C>T rs1669848389
NM_020779.4(WDR35):c.*16T>C rs1669898811
NM_020779.4(WDR35):c.*1754C>G rs1188052659
NM_020779.4(WDR35):c.*1934A>G rs886055399
NM_020779.4(WDR35):c.*1960G>T rs1669835588
NM_020779.4(WDR35):c.*2239G>A rs1042042509
NM_020779.4(WDR35):c.*2341G>C rs886055397
NM_020779.4(WDR35):c.*2629T>A rs1001737898
NM_020779.4(WDR35):c.*271A>G rs994131640
NM_020779.4(WDR35):c.*2962C>T rs886055393
NM_020779.4(WDR35):c.*2990G>T rs781556463
NM_020779.4(WDR35):c.*635C>T rs1669878199
NM_020779.4(WDR35):c.1231T>G (p.Leu411Val) rs1418266904
NM_020779.4(WDR35):c.1609C>G (p.Gln537Glu) rs1416766008
NM_020779.4(WDR35):c.24+4A>G rs780961583
NM_020779.4(WDR35):c.2400T>C (p.Ala800=) rs886055404
NM_020779.4(WDR35):c.2455G>A (p.Glu819Lys) rs768049606
NM_020779.4(WDR35):c.2492A>G (p.Tyr831Cys) rs886055403
NM_020779.4(WDR35):c.273A>G (p.Glu91=) rs1558360162
NM_020779.4(WDR35):c.308G>C (p.Gly103Ala) rs886055406
NM_020779.4(WDR35):c.3464A>C (p.Glu1155Ala) rs1669900626

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