ClinVar Miner

List of variants studied for central nervous system malformation by Natera, Inc.

Included ClinVar conditions (162):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 184
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HGVS dbSNP gnomAD frequency
NM_001173990.3(TMEM216):c.264G>A (p.Pro88=) rs3741265 0.84043
NM_003384.3(VRK1):c.705C>T (p.Gly235=) rs2230532 0.32707
NM_003384.3(VRK1):c.45A>G (p.Ala15=) rs2145635 0.32398
NM_020320.5(RARS2):c.1704A>G (p.Lys568=) rs8802 0.12189
NM_020320.5(RARS2):c.872A>G (p.Lys291Arg) rs17850652 0.09110
NM_001173990.3(TMEM216):c.-2G>T rs7107543 0.08005
NM_016955.4(SEPSECS):c.1356G>C (p.Lys452Asn) rs2302566 0.07763
NM_016955.4(SEPSECS):c.1211+7A>G rs17408685 0.04557
NM_020320.5(RARS2):c.703G>A (p.Val235Met) rs35862137 0.03019
NM_020320.5(RARS2):c.991A>G (p.Ile331Val) rs3757370 0.02330
NM_020320.5(RARS2):c.63A>G (p.Pro21=) rs7748563 0.01309
NM_016955.4(SEPSECS):c.1394G>A (p.Arg465Gln) rs115959591 0.00697
NM_016955.4(SEPSECS):c.935-5T>G rs2302564 0.00644
NM_001173990.3(TMEM216):c.35-17C>T rs147953784 0.00450
NM_001173990.3(TMEM216):c.211G>T (p.Val71Leu) rs57932685 0.00251
NM_020320.5(RARS2):c.-8A>C rs28381459 0.00245
NM_020320.5(RARS2):c.155A>T (p.Lys52Ile) rs73496064 0.00172
NM_016955.4(SEPSECS):c.1023A>G (p.Arg341=) rs148209667 0.00165
NM_016955.4(SEPSECS):c.780A>G (p.Ser260=) rs61747281 0.00120
NM_016955.4(SEPSECS):c.919A>G (p.Ser307Gly) rs150309842 0.00099
NM_003384.3(VRK1):c.175T>G (p.Ser59Ala) rs61736727 0.00098
NM_020320.5(RARS2):c.456T>C (p.Asn152=) rs141374913 0.00070
NM_003384.3(VRK1):c.1020C>T (p.Asp340=) rs147853760 0.00066
NM_003384.3(VRK1):c.1021C>T (p.Leu341Phe) rs139734064 0.00059
NM_020320.5(RARS2):c.1518C>T (p.Asp506=) rs754538094 0.00059
NM_020320.5(RARS2):c.442A>G (p.Thr148Ala) rs143389605 0.00055
NM_001173990.3(TMEM216):c.140T>C (p.Val47Ala) rs762918371 0.00052
NM_003384.3(VRK1):c.375-8G>C rs191021502 0.00051
NM_003384.3(VRK1):c.858G>T (p.Met286Ile) rs139476915 0.00051
NM_020320.5(RARS2):c.78A>C (p.Thr26=) rs138360045 0.00046
NM_020320.5(RARS2):c.773G>A (p.Arg258His) rs145297855 0.00044
NM_001173990.3(TMEM216):c.289T>A (p.Phe97Ile) rs201614099 0.00042
NM_001173990.3(TMEM216):c.113A>G (p.Glu38Gly) rs568253718 0.00036
NM_020320.5(RARS2):c.879-6T>C rs117516147 0.00036
NM_003384.3(VRK1):c.901A>G (p.Lys301Glu) rs149661915 0.00031
NM_016955.4(SEPSECS):c.1128A>G (p.Thr376=) rs368182922 0.00026
NM_020320.5(RARS2):c.1637C>T (p.Pro546Leu) rs142348911 0.00026
NM_020320.5(RARS2):c.207A>G (p.Ala69=) rs568483789 0.00025
NM_020320.5(RARS2):c.1108G>C (p.Glu370Gln) rs138490776 0.00023
NM_020320.5(RARS2):c.1512-6T>C rs185924037 0.00022
NM_020320.5(RARS2):c.6G>A (p.Ala2=) rs371542506 0.00018
NM_003384.3(VRK1):c.216+8A>G rs369680885 0.00016
NM_003384.3(VRK1):c.906C>T (p.Tyr302=) rs528346065 0.00016
NM_020320.5(RARS2):c.1413C>G (p.His471Gln) rs187815721 0.00016
NM_016955.4(SEPSECS):c.45G>A (p.Pro15=) rs77226826 0.00014
NM_016955.4(SEPSECS):c.548-1G>A rs200041461 0.00014
NM_016955.4(SEPSECS):c.84T>C (p.His28=) rs532571185 0.00014
NM_020320.5(RARS2):c.1026G>A (p.Met342Ile) rs34647222 0.00014
NM_003384.3(VRK1):c.759A>G (p.Gln253=) rs150534939 0.00012
NM_003384.3(VRK1):c.845T>C (p.Ile282Thr) rs371024271 0.00011
NM_016955.4(SEPSECS):c.1027-7G>A rs374407543 0.00011
NM_016955.4(SEPSECS):c.388+10G>A rs376797370 0.00011
NM_016955.4(SEPSECS):c.1291T>G (p.Cys431Gly) rs572892329 0.00009
NM_016955.4(SEPSECS):c.584G>A (p.Gly195Asp) rs139718374 0.00009
NM_016955.4(SEPSECS):c.960A>G (p.Leu320=) rs141199115 0.00009
NM_016955.4(SEPSECS):c.1027-9T>C rs368335778 0.00008
NM_016955.4(SEPSECS):c.1212-10C>G rs375688949 0.00008
NM_016955.4(SEPSECS):c.*6G>A rs753956739 0.00007
NM_016955.4(SEPSECS):c.1320C>T (p.Ile440=) rs375534729 0.00007
NM_001173990.3(TMEM216):c.123A>T (p.Ile41=) rs900061092 0.00006
NM_001173990.3(TMEM216):c.358A>G (p.Met120Val) rs200289511 0.00006
NM_001173990.3(TMEM216):c.420T>C (p.Ala140=) rs749351351 0.00006
NM_003384.3(VRK1):c.1072C>T (p.Arg358Ter) rs137853063 0.00006
NM_003384.3(VRK1):c.161-3C>T rs746546400 0.00006
NM_003384.3(VRK1):c.576+8T>C rs368495945 0.00006
NM_003384.3(VRK1):c.701A>G (p.Asn234Ser) rs369310409 0.00006
NM_020320.5(RARS2):c.1492A>G (p.Ile498Val) rs200632524 0.00006
NM_020320.5(RARS2):c.15T>A (p.Phe5Leu) rs545377358 0.00006
NM_020320.5(RARS2):c.1512-4T>C rs542159390 0.00005
NM_020320.5(RARS2):c.735G>A (p.Arg245=) rs574006058 0.00005
NM_001173990.3(TMEM216):c.254G>A (p.Arg85Gln) rs368617773 0.00004
NM_001173990.3(TMEM216):c.277G>A (p.Val93Met) rs541257103 0.00004
NM_001173990.3(TMEM216):c.344G>A (p.Arg115His) rs752216307 0.00004
NM_003384.3(VRK1):c.1150A>G (p.Ile384Val) rs147604836 0.00004
NM_003384.3(VRK1):c.29G>A (p.Gly10Glu) rs777028935 0.00004
NM_003384.3(VRK1):c.560A>G (p.Tyr187Cys) rs769507445 0.00004
NM_003384.3(VRK1):c.663C>T (p.His221=) rs376006178 0.00004
NM_003384.3(VRK1):c.683C>T (p.Thr228Met) rs146113610 0.00004
NM_003384.3(VRK1):c.841A>G (p.Asn281Asp) rs772136738 0.00004
NM_016955.4(SEPSECS):c.1351A>G (p.Ile451Val) rs764436131 0.00004
NM_020320.5(RARS2):c.245G>A (p.Ser82Asn) rs749061654 0.00004
NM_020320.5(RARS2):c.444C>T (p.Thr148=) rs201596004 0.00004
NM_020320.5(RARS2):c.943C>T (p.Arg315Ter) rs199835443 0.00004
NM_001173990.3(TMEM216):c.405G>A (p.Glu135=) rs748486939 0.00003
NM_003384.3(VRK1):c.1069-9A>G rs767585930 0.00003
NM_003384.3(VRK1):c.1180G>A (p.Val394Ile) rs1392561922 0.00003
NM_003384.3(VRK1):c.307C>T (p.Arg103Cys) rs755450815 0.00003
NM_016955.4(SEPSECS):c.1250A>G (p.Tyr417Cys) rs762180254 0.00003
NM_020320.5(RARS2):c.1236G>C (p.Lys412Asn) rs200547165 0.00003
NM_020320.5(RARS2):c.709G>A (p.Ala237Thr) rs771897965 0.00003
NM_001173990.3(TMEM216):c.26C>T (p.Ala9Val) rs1441727203 0.00002
NM_001173990.3(TMEM216):c.336C>T (p.Tyr112=) rs147267631 0.00002
NM_003384.3(VRK1):c.216+1G>C rs774518440 0.00002
NM_003384.3(VRK1):c.26C>T (p.Ala9Val) rs771269721 0.00002
NM_003384.3(VRK1):c.308G>A (p.Arg103His) rs779386449 0.00002
NM_016955.4(SEPSECS):c.1390G>T (p.Glu464Ter) rs747732980 0.00002
NM_016955.4(SEPSECS):c.389-1G>A rs754373273 0.00002
NM_020320.5(RARS2):c.1170C>T (p.Val390=) rs780796866 0.00002
NM_020320.5(RARS2):c.1442A>G (p.Tyr481Cys) rs775657290 0.00002
NM_020320.5(RARS2):c.152A>G (p.Glu51Gly) rs863224185 0.00002
NM_020320.5(RARS2):c.970A>G (p.Thr324Ala) rs774506039 0.00002
NM_001173990.3(TMEM216):c.11G>A (p.Arg4Gln) rs548299486 0.00001
NM_001173990.3(TMEM216):c.324G>A (p.Leu108=) rs528921796 0.00001
NM_001173990.3(TMEM216):c.343C>T (p.Arg115Cys) rs774225426 0.00001
NM_001173990.3(TMEM216):c.359T>C (p.Met120Thr) rs367737418 0.00001
NM_001173990.3(TMEM216):c.40C>T (p.Arg14Trp) rs528271337 0.00001
NM_003384.3(VRK1):c.1064C>G (p.Thr355Arg) rs1322207018 0.00001
NM_003384.3(VRK1):c.1099G>C (p.Glu367Gln) rs145241983 0.00001
NM_003384.3(VRK1):c.1142A>G (p.Glu381Gly) rs549505565 0.00001
NM_003384.3(VRK1):c.1159C>T (p.Arg387Cys) rs149083861 0.00001
NM_003384.3(VRK1):c.1166G>A (p.Arg389Lys) rs766501031 0.00001
NM_003384.3(VRK1):c.134A>G (p.Gln45Arg) rs1372198425 0.00001
NM_003384.3(VRK1):c.151A>G (p.Ile51Val) rs1237038231 0.00001
NM_003384.3(VRK1):c.176C>T (p.Ser59Leu) rs1474265077 0.00001
NM_003384.3(VRK1):c.362A>G (p.Lys121Arg) rs1064796973 0.00001
NM_003384.3(VRK1):c.466C>A (p.Gln156Lys) rs201936978 0.00001
NM_003384.3(VRK1):c.576+9A>G rs978347799 0.00001
NM_003384.3(VRK1):c.577-4A>G rs1194395636 0.00001
NM_003384.3(VRK1):c.607C>T (p.Arg203Trp) rs144600646 0.00001
NM_003384.3(VRK1):c.772C>T (p.His258Tyr) rs761905254 0.00001
NM_003384.3(VRK1):c.830+10A>G rs544437757 0.00001
NM_016955.4(SEPSECS):c.264T>A (p.His88Gln) rs756402081 0.00001
NM_016955.4(SEPSECS):c.389G>A (p.Gly130Asp) rs1004182733 0.00001
NM_016955.4(SEPSECS):c.766G>T (p.Gly256Ter) rs779387647 0.00001
NM_020320.5(RARS2):c.1086G>T (p.Lys362Asn) rs200101535 0.00001
NM_020320.5(RARS2):c.110A>G (p.Glu37Gly) rs768728673 0.00001
NM_020320.5(RARS2):c.1678C>T (p.Arg560Cys) rs562472225 0.00001
NM_020320.5(RARS2):c.1692C>G (p.Ala564=) rs760078372 0.00001
NM_020320.5(RARS2):c.1708C>T (p.Leu570Phe) rs144242932 0.00001
NM_020320.5(RARS2):c.1724dup (p.Cys576fs) rs863224184 0.00001
NM_020320.5(RARS2):c.28G>A (p.Ala10Thr) rs755340864 0.00001
NM_020320.5(RARS2):c.660A>C (p.Ala220=) rs553502877 0.00001
NM_020320.5(RARS2):c.885A>G (p.Gly295=) rs769636930 0.00001
NM_001173990.3(TMEM216):c.*6A>G rs541341560
NM_001173990.3(TMEM216):c.123A>C (p.Ile41=) rs900061092
NM_001173990.3(TMEM216):c.137-7T>C rs1554972545
NM_001173990.3(TMEM216):c.216T>C (p.Ile72=) rs541666319
NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu) rs201108965
NM_001173990.3(TMEM216):c.229+10G>A rs1590642512
NM_001173990.3(TMEM216):c.230-10T>C rs1858829914
NM_001173990.3(TMEM216):c.295T>C (p.Ser99Pro) rs1238443381
NM_001173990.3(TMEM216):c.35-13_36del rs1057520085
NM_001173990.3(TMEM216):c.5T>C (p.Leu2Pro) rs569734777
NM_001173990.3(TMEM216):c.7C>A (p.Pro3Thr) rs1554972409
NM_003384.3(VRK1):c.1004A>G (p.Asp335Gly) rs1888350254
NM_003384.3(VRK1):c.1013A>G (p.Lys338Arg) rs779911846
NM_003384.3(VRK1):c.1069-6T>C rs1889016062
NM_003384.3(VRK1):c.1070A>T (p.Lys357Met) rs1595691552
NM_003384.3(VRK1):c.217-3A>G rs1009112116
NM_003384.3(VRK1):c.418A>G (p.Lys140Glu) rs764788560
NM_003384.3(VRK1):c.439A>G (p.Lys147Glu) rs1888005284
NM_003384.3(VRK1):c.526G>A (p.Gly176Arg) rs888762581
NM_003384.3(VRK1):c.546TCT[2] (p.Leu185del) rs774219368
NM_003384.3(VRK1):c.668G>T (p.Gly223Val) rs1555361508
NM_003384.3(VRK1):c.690C>T (p.Ile230=) rs747694940
NM_003384.3(VRK1):c.706G>A (p.Val236Met) rs771364038
NM_003384.3(VRK1):c.817G>C (p.Asp273His) rs1595677216
NM_003384.3(VRK1):c.830G>A (p.Arg277Lys) rs1888148684
NM_003384.3(VRK1):c.882C>G (p.Asn294Lys) rs541660707
NM_003384.3(VRK1):c.944C>T (p.Pro315Leu) rs761494436
NM_003384.3(VRK1):c.962G>A (p.Arg321His) rs200927943
NM_016955.4(SEPSECS):c.1022G>A (p.Arg341Lys) rs1064796736
NM_016955.4(SEPSECS):c.1120G>A (p.Ala374Thr) rs1261267969
NM_016955.4(SEPSECS):c.115-18dup rs34423002
NM_016955.4(SEPSECS):c.115-4del rs34423002
NM_016955.4(SEPSECS):c.1222C>T (p.Leu408Phe) rs752082832
NM_016955.4(SEPSECS):c.1453G>A (p.Ala485Thr) rs1233729947
NM_016955.4(SEPSECS):c.1461A>C (p.Lys487Asn) rs1728243877
NM_016955.4(SEPSECS):c.491A>G (p.Tyr164Cys) rs768840152
NM_016955.4(SEPSECS):c.499T>C (p.Trp167Arg) rs1194507895
NM_016955.4(SEPSECS):c.804+4A>T rs1479554001
NM_020320.5(RARS2):c.1587-10C>G rs531179961
NM_020320.5(RARS2):c.1675G>A (p.Val559Ile) rs1770872960
NM_020320.5(RARS2):c.19C>T (p.Arg7Cys) rs201693843
NM_020320.5(RARS2):c.1A>G (p.Met1Val) rs774923951
NM_020320.5(RARS2):c.262G>A (p.Val88Ile) rs1562212642
NM_020320.5(RARS2):c.637G>A (p.Ala213Thr) rs1562102337
NM_020320.5(RARS2):c.726A>G (p.Gln242=) rs145499324
NM_020320.5(RARS2):c.757A>G (p.Ile253Val) rs863224179
NM_020320.5(RARS2):c.772-3del rs368859792
NM_020320.5(RARS2):c.772-4_772-3del rs368859792
NM_020320.5(RARS2):c.818G>T (p.Arg273Leu) rs139721632
NM_020320.5(RARS2):c.888G>A (p.Thr296=) rs145189950
NM_020320.5(RARS2):c.888G>C (p.Thr296=) rs145189950

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