ClinVar Miner

List of variants reported as uncertain significance for autosomal anomaly by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (124):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 230
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HGVS dbSNP gnomAD frequency
NM_001330078.2(NRXN1):c.322C>T (p.Pro108Ser) rs199784029 0.00138
NM_004715.5(CTDP1):c.1219T>C (p.Trp407Arg) rs149090172 0.00103
NM_001330078.2(NRXN1):c.569A>G (p.Asn190Ser) rs200792504 0.00074
NM_001330078.2(NRXN1):c.2533C>T (p.His845Tyr) rs199784139 0.00064
NM_001378120.1(MBD5):c.236G>A (p.Gly79Glu) rs34995577 0.00061
NM_001330078.2(NRXN1):c.2605C>A (p.Leu869Met) rs201818223 0.00044
NM_181703.4(GJA5):c.995G>A (p.Arg332His) rs116551187 0.00037
NM_000501.4(ELN):c.1358-199G>A rs781963901 0.00034
NM_000501.4(ELN):c.647G>T (p.Gly216Val) rs145612009 0.00034
NM_001378414.1(HDAC4):c.1748C>T (p.Pro583Leu) rs201187772 0.00030
NM_001330078.2(NRXN1):c.2190G>T (p.Gln730His) rs199978276 0.00025
NM_001330078.2(NRXN1):c.3365-109939C>T rs766942777 0.00024
NM_000501.4(ELN):c.1373C>A (p.Ala458Glu) rs149117932 0.00021
NM_001330078.2(NRXN1):c.1700T>G (p.Leu567Trp) rs372311299 0.00021
NM_001330078.2(NRXN1):c.302C>G (p.Ala101Gly) rs200184823 0.00019
NM_022455.5(NSD1):c.8071G>A (p.Ala2691Thr) rs201823140 0.00018
NM_022455.5(NSD1):c.7576C>T (p.Pro2526Ser) rs373932824 0.00016
NM_144997.7(FLCN):c.113G>T (p.Ser38Ile) rs139418842 0.00016
NM_144997.7(FLCN):c.1364A>G (p.Glu455Gly) rs199786696 0.00016
NM_000501.4(ELN):c.1675G>A (p.Val559Ile) rs560081099 0.00015
NM_001378120.1(MBD5):c.4857C>T (p.Gly1619=) rs543329958 0.00015
NM_022455.5(NSD1):c.816C>A (p.Asn272Lys) rs144524958 0.00014
NM_000304.4(PMP22):c.-134G>A rs754758124 0.00013
NM_001330078.2(NRXN1):c.2459G>A (p.Ser820Asn) rs80293130 0.00013
NM_000501.4(ELN):c.35G>T (p.Gly12Val) rs367634266 0.00012
NM_000501.4(ELN):c.202G>A (p.Gly68Arg) rs372566075 0.00011
NM_022455.5(NSD1):c.1478C>T (p.Pro493Leu) rs140583358 0.00011
NM_024426.6(WT1):c.1158G>A (p.Ser386=) rs377446096 0.00009
NM_001330078.2(NRXN1):c.1978G>A (p.Ala660Thr) rs199939303 0.00008
NM_024426.6(WT1):c.314C>G (p.Ala105Gly) rs948061247 0.00008
NM_000501.4(ELN):c.403G>A (p.Gly135Arg) rs373650953 0.00007
NM_001378120.1(MBD5):c.2840G>A (p.Gly947Glu) rs114359726 0.00007
NM_144997.7(FLCN):c.802C>T (p.Arg268Trp) rs762370059 0.00007
NM_000501.4(ELN):c.1543G>A (p.Val515Met) rs376258672 0.00006
NM_001330078.2(NRXN1):c.4011G>C (p.Glu1337Asp) rs200935246 0.00006
NM_001378414.1(HDAC4):c.1649C>T (p.Pro550Leu) rs151167488 0.00006
NM_144997.7(FLCN):c.1283C>T (p.Pro428Leu) rs199889477 0.00006
NM_001330078.2(NRXN1):c.270G>T (p.Gln90His) rs199960045 0.00005
NM_002049.4(GATA1):c.94G>A (p.Val32Ile) rs782698349 0.00005
NM_022455.5(NSD1):c.2266A>G (p.Asn756Asp) rs142657029 0.00005
NM_022455.5(NSD1):c.3068G>A (p.Arg1023Gln) rs756022347 0.00005
NM_144997.7(FLCN):c.86T>C (p.Leu29Pro) rs150051278 0.00005
NM_144997.7(FLCN):c.952G>A (p.Glu318Lys) rs756787389 0.00005
NM_000304.4(PMP22):c.185T>G (p.Leu62Arg) rs756046682 0.00004
NM_001330078.2(NRXN1):c.3407C>T (p.Thr1136Met) rs138261348 0.00004
NM_001330078.2(NRXN1):c.4237G>A (p.Gly1413Ser) rs200604893 0.00004
NM_022455.5(NSD1):c.3121A>G (p.Asn1041Asp) rs770541943 0.00004
NM_022455.5(NSD1):c.3178C>T (p.Pro1060Ser) rs188847458 0.00004
NM_022455.5(NSD1):c.5635A>G (p.Ile1879Val) rs746599803 0.00004
NM_024426.6(WT1):c.1150G>A (p.Val384Ile) rs977244044 0.00004
NM_144997.7(FLCN):c.707A>G (p.Asn236Ser) rs1194767470 0.00004
NM_144997.7(FLCN):c.716G>A (p.Arg239His) rs753948488 0.00004
NM_144997.7(FLCN):c.82C>T (p.Pro28Ser) rs749758787 0.00004
NM_000501.4(ELN):c.1943G>A (p.Gly648Glu) rs140085632 0.00003
NM_001002295.2(GATA3):c.359C>T (p.Thr120Met) rs750735308 0.00003
NM_001330078.2(NRXN1):c.338C>T (p.Ala113Val) rs201542547 0.00003
NM_022455.5(NSD1):c.1224A>G (p.Gly408=) rs587784069 0.00003
NM_022455.5(NSD1):c.3272T>G (p.Leu1091Arg) rs764231926 0.00003
NM_022455.5(NSD1):c.3649C>T (p.Pro1217Ser) rs372004424 0.00003
NM_022455.5(NSD1):c.4328A>G (p.Asn1443Ser) rs141911573 0.00003
NM_022455.5(NSD1):c.4332C>T (p.Gly1444=) rs147235302 0.00003
NM_022455.5(NSD1):c.6845C>G (p.Pro2282Arg) rs539453877 0.00003
NM_024426.6(WT1):c.1142C>T (p.Pro381Leu) rs1014605516 0.00003
NM_144997.7(FLCN):c.134C>G (p.Ala45Gly) rs556510460 0.00003
NM_144997.7(FLCN):c.1373A>G (p.Gln458Arg) rs150439088 0.00003
NM_144997.7(FLCN):c.139G>C (p.Glu47Gln) rs369115472 0.00003
NM_144997.7(FLCN):c.1430G>A (p.Arg477Gln) rs748878853 0.00003
NM_144997.7(FLCN):c.1637A>G (p.Asn546Ser) rs775149348 0.00003
NM_144997.7(FLCN):c.536G>A (p.Arg179Gln) rs369906553 0.00003
NM_144997.7(FLCN):c.604G>A (p.Gly202Ser) rs774491699 0.00003
NM_144997.7(FLCN):c.634C>A (p.Gln212Lys) rs558699420 0.00003
NM_144997.7(FLCN):c.673G>A (p.Ala225Thr) rs769250170 0.00003
NM_144997.7(FLCN):c.779+5C>T rs745645385 0.00003
NM_000304.4(PMP22):c.255C>G (p.Cys85Trp) rs755701957 0.00002
NM_001378120.1(MBD5):c.2396C>T (p.Ser799Leu) rs759990854 0.00002
NM_022455.5(NSD1):c.1801A>G (p.Lys601Glu) rs780179136 0.00002
NM_022455.5(NSD1):c.2174C>T (p.Thr725Met) rs774810620 0.00002
NM_022455.5(NSD1):c.2297C>T (p.Ser766Leu) rs773591859 0.00002
NM_022455.5(NSD1):c.241A>G (p.Met81Val) rs763781326 0.00002
NM_022455.5(NSD1):c.3697C>T (p.Arg1233Trp) rs771467409 0.00002
NM_022455.5(NSD1):c.6848T>C (p.Leu2283Pro) rs776592297 0.00002
NM_022455.5(NSD1):c.6887T>C (p.Val2296Ala) rs754309202 0.00002
NM_024426.6(WT1):c.1092C>A (p.His364Gln) rs587778756 0.00002
NM_024426.6(WT1):c.218A>T (p.Gln73Leu) rs1036899554 0.00002
NM_024426.6(WT1):c.628T>G (p.Cys210Gly) rs776426005 0.00002
NM_024426.6(WT1):c.779C>T (p.Ser260Leu) rs1444869026 0.00002
NM_144997.7(FLCN):c.1049G>A (p.Arg350Gln) rs190786280 0.00002
NM_144997.7(FLCN):c.1084C>T (p.Arg362Cys) rs557336321 0.00002
NM_144997.7(FLCN):c.1193G>C (p.Gly398Ala) rs766801011 0.00002
NM_144997.7(FLCN):c.249+2C>T rs939223011 0.00002
NM_144997.7(FLCN):c.396+6C>T rs747922795 0.00002
NM_000304.4(PMP22):c.478G>A (p.Glu160Lys) rs1022583382 0.00001
NM_000501.4(ELN):c.1138G>A (p.Ala380Thr) rs973649598 0.00001
NM_000501.4(ELN):c.1150G>A (p.Gly384Arg) rs782359367 0.00001
NM_001002295.2(GATA3):c.1223C>T (p.Ser408Leu) rs752977342 0.00001
NM_001002295.2(GATA3):c.209C>A (p.Ala70Asp) rs761676499 0.00001
NM_001002295.2(GATA3):c.71C>T (p.Pro24Leu) rs1485724723 0.00001
NM_001330078.2(NRXN1):c.1546C>A (p.Leu516Ile) rs781442387 0.00001
NM_001330078.2(NRXN1):c.1784G>A (p.Arg595His) rs761279630 0.00001
NM_001330078.2(NRXN1):c.262C>G (p.Arg88Gly) rs748684256 0.00001
NM_001378120.1(MBD5):c.1372C>A (p.Gln458Lys) rs990365646 0.00001
NM_001378120.1(MBD5):c.2011A>G (p.Arg671Gly) rs1376331579 0.00001
NM_001378120.1(MBD5):c.2828A>G (p.Gln943Arg) rs377062993 0.00001
NM_022455.5(NSD1):c.1573C>T (p.Arg525Trp) rs1215568879 0.00001
NM_022455.5(NSD1):c.1579G>A (p.Gly527Arg) rs1488271424 0.00001
NM_022455.5(NSD1):c.1976A>G (p.Asp659Gly) rs754514832 0.00001
NM_022455.5(NSD1):c.2079C>G (p.Asn693Lys) rs766184697 0.00001
NM_022455.5(NSD1):c.2363G>A (p.Arg788Gln) rs751258086 0.00001
NM_022455.5(NSD1):c.2809C>T (p.Arg937Trp) rs780991637 0.00001
NM_022455.5(NSD1):c.3352G>A (p.Asp1118Asn) rs1348023231 0.00001
NM_022455.5(NSD1):c.3558C>G (p.Ala1186=) rs398124377 0.00001
NM_022455.5(NSD1):c.3959G>A (p.Arg1320Gln) rs1388537733 0.00001
NM_022455.5(NSD1):c.4380C>T (p.Gly1460=) rs1251583221 0.00001
NM_022455.5(NSD1):c.5204A>G (p.Asn1735Ser) rs746925986 0.00001
NM_022455.5(NSD1):c.653G>T (p.Arg218Ile) rs1240149522 0.00001
NM_022455.5(NSD1):c.6680C>T (p.Pro2227Leu) rs748597598 0.00001
NM_022455.5(NSD1):c.670T>C (p.Ser224Pro) rs770174512 0.00001
NM_022455.5(NSD1):c.7331A>G (p.Gln2444Arg) rs921266576 0.00001
NM_022455.5(NSD1):c.7618T>C (p.Ser2540Pro) rs750441093 0.00001
NM_022455.5(NSD1):c.7678T>C (p.Ser2560Pro) rs1388409083 0.00001
NM_022455.5(NSD1):c.7739C>T (p.Ala2580Val) rs755285941 0.00001
NM_024426.6(WT1):c.1253G>T (p.Arg418Met) rs373176048 0.00001
NM_024426.6(WT1):c.1487A>G (p.Lys496Arg) rs760370132 0.00001
NM_024426.6(WT1):c.1559T>C (p.Leu520Pro) rs774228907 0.00001
NM_024426.6(WT1):c.1562C>T (p.Ala521Val) rs749266841 0.00001
NM_024426.6(WT1):c.223G>A (p.Gly75Ser) rs528076586 0.00001
NM_024426.6(WT1):c.26C>T (p.Pro9Leu) rs948132360 0.00001
NM_024426.6(WT1):c.386C>A (p.Pro129Gln) rs745435848 0.00001
NM_024426.6(WT1):c.439C>G (p.Gln147Glu) rs953087575 0.00001
NM_024426.6(WT1):c.459C>T (p.Gly153=) rs1309250331 0.00001
NM_024426.6(WT1):c.646G>A (p.Ala216Thr) rs778069787 0.00001
NM_024426.6(WT1):c.658C>A (p.Gln220Lys) rs373935628 0.00001
NM_024426.6(WT1):c.685G>A (p.Gly229Arg) rs767419243 0.00001
NM_024426.6(WT1):c.691C>T (p.Pro231Ser) rs766425764 0.00001
NM_024426.6(WT1):c.887+19C>G rs755113185 0.00001
NM_144997.7(FLCN):c.1087A>T (p.Met363Leu) rs1313891453 0.00001
NM_144997.7(FLCN):c.1315G>A (p.Val439Met) rs112980409 0.00001
NM_144997.7(FLCN):c.1363G>A (p.Glu455Lys) rs759637055 0.00001
NM_144997.7(FLCN):c.1635C>G (p.Asp545Glu) rs760329266 0.00001
NM_144997.7(FLCN):c.1709G>A (p.Arg570His) rs201056799 0.00001
NM_144997.7(FLCN):c.175C>T (p.Arg59Cys) rs778275358 0.00001
NM_144997.7(FLCN):c.179C>T (p.Ala60Val) rs779900587 0.00001
NM_144997.7(FLCN):c.221C>T (p.Pro74Leu) rs773648142 0.00001
NM_144997.7(FLCN):c.230A>C (p.Lys77Thr) rs746556970 0.00001
NM_144997.7(FLCN):c.251G>T (p.Gly84Val) rs1386417463 0.00001
NM_144997.7(FLCN):c.451G>A (p.Val151Met) rs147164515 0.00001
NM_144997.7(FLCN):c.498C>G (p.Phe166Leu) rs1040675580 0.00001
NM_144997.7(FLCN):c.49C>T (p.Arg17Cys) rs765251703 0.00001
NM_144997.7(FLCN):c.535C>T (p.Arg179Trp) rs774358971 0.00001
NM_144997.7(FLCN):c.562T>A (p.Phe188Ile) rs1407566775 0.00001
NM_144997.7(FLCN):c.581G>A (p.Arg194Gln) rs756807584 0.00001
NM_144997.7(FLCN):c.644G>A (p.Cys215Tyr) rs370074267 0.00001
NM_144997.7(FLCN):c.734C>A (p.Thr245Lys) rs371401039 0.00001
NM_144997.7(FLCN):c.748C>A (p.Leu250Met) rs898441209 0.00001
NM_144997.7(FLCN):c.833C>T (p.Pro278Leu) rs748031634 0.00001
NM_144997.7(FLCN):c.986C>T (p.Ser329Phe) rs770027312 0.00001
NM_000501.3(ELN):c.-70G>C rs537200597
NM_000501.4(ELN):c.1591_1592delinsTT (p.Ala531Phe) rs863223529
NM_001002295.2(GATA3):c.706C>T (p.Pro236Ser) rs148835259
NM_001172509.2(SATB2):c.1852C>T (p.Arg618Cys) rs2105707260
NM_001172509.2(SATB2):c.424A>G (p.Met142Val) rs751779659
NM_001172509.2(SATB2):c.770A>G (p.Asn257Ser) rs2105823534
NM_001330078.2(NRXN1):c.2509G>C (p.Gly837Arg) rs2104921155
NM_001330078.2(NRXN1):c.2597T>C (p.Ile866Thr) rs796052779
NM_001330078.2(NRXN1):c.3542A>G (p.His1181Arg) rs200915287
NM_001330078.2(NRXN1):c.4247C>G (p.Pro1416Arg) rs199697191
NM_001368894.2(PAX6):c.556_564del (p.Pro186_Gln188del) rs747077748
NM_001378120.1(MBD5):c.1837A>G (p.Asn613Asp) rs398124341
NM_001378120.1(MBD5):c.3932G>A (p.Gly1311Asp) rs1352862206
NM_001378120.1(MBD5):c.4238A>T (p.Asp1413Val) rs752035001
NM_002049.4(GATA1):c.893G>A (p.Arg298Gln) rs2147307511
NM_002049.4(GATA1):c.944A>G (p.Lys315Arg) rs782326935
NM_022455.5(NSD1):c.1325G>A (p.Cys442Tyr) rs1763180633
NM_022455.5(NSD1):c.1363A>G (p.Met455Val) rs546116718
NM_022455.5(NSD1):c.1367C>T (p.Pro456Leu) rs775730406
NM_022455.5(NSD1):c.145C>T (p.Gln49Ter) rs1336273625
NM_022455.5(NSD1):c.2008G>A (p.Asp670Asn) rs1554189230
NM_022455.5(NSD1):c.2077A>G (p.Asn693Asp) rs773782115
NM_022455.5(NSD1):c.243G>C (p.Met81Ile) rs886042530
NM_022455.5(NSD1):c.334G>T (p.Val112Phe) rs1756231832
NM_022455.5(NSD1):c.3418G>A (p.Val1140Ile) rs1763367854
NM_022455.5(NSD1):c.4546G>C (p.Glu1516Gln) rs2149899575
NM_022455.5(NSD1):c.5549C>T (p.Ala1850Val) rs2127241862
NM_022455.5(NSD1):c.6632A>G (p.Asn2211Ser) rs2127279586
NM_022455.5(NSD1):c.6674C>A (p.Pro2225Gln) rs755013078
NM_022455.5(NSD1):c.7016C>T (p.Pro2339Leu) rs1581564675
NM_022455.5(NSD1):c.7510G>A (p.Val2504Ile) rs1005975383
NM_022455.5(NSD1):c.769C>T (p.Pro257Ser) rs1756280868
NM_022455.5(NSD1):c.793A>G (p.Ile265Val) rs771587260
NM_024426.6(WT1):c.1127T>C (p.Val376Ala) rs1180529775
NM_024426.6(WT1):c.1162T>C (p.Ser388Pro) rs992930804
NM_024426.6(WT1):c.1218A>C (p.Arg406Ser) rs1554939793
NM_024426.6(WT1):c.163G>A (p.Ala55Thr)
NM_024426.6(WT1):c.203G>A (p.Gly68Glu) rs1170323988
NM_024426.6(WT1):c.28_29delinsTA (p.Ala10Tyr) rs1554946803
NM_024426.6(WT1):c.351C>T (p.Gly117=) rs1473590912
NM_024426.6(WT1):c.386C>T (p.Pro129Leu) rs745435848
NM_024426.6(WT1):c.591G>T (p.Gln197His) rs767850217
NM_024426.6(WT1):c.600G>A (p.Met200Ile) rs1060501257
NM_024426.6(WT1):c.653G>A (p.Arg218His) rs756414084
NM_024426.6(WT1):c.661+15G>T rs1362460137
NM_024426.6(WT1):c.722C>T (p.Ala241Val) rs1190263054
NM_024426.6(WT1):c.746T>G (p.Phe249Cys) rs777119782
NM_024426.6(WT1):c.785-14G>A rs375514482
NM_024426.6(WT1):c.989C>T (p.Ser330Leu) rs762688982
NM_144997.7(FLCN):c.1040A>G (p.Lys347Arg) rs752337482
NM_144997.7(FLCN):c.10A>G (p.Ile4Val) rs1555611575
NM_144997.7(FLCN):c.1283C>A (p.Pro428His) rs199889477
NM_144997.7(FLCN):c.1285C>G (p.His429Asp) rs375082054
NM_144997.7(FLCN):c.1285C>T (p.His429Tyr) rs375082054
NM_144997.7(FLCN):c.1300+4C>T rs1207963576
NM_144997.7(FLCN):c.1309G>C (p.Val437Leu) rs772207015
NM_144997.7(FLCN):c.1337G>A (p.Arg446His) rs750104212
NM_144997.7(FLCN):c.134C>T (p.Ala45Val) rs556510460
NM_144997.7(FLCN):c.1351C>T (p.Pro451Ser) rs2046880742
NM_144997.7(FLCN):c.1487C>T (p.Ser496Phe) rs750535468
NM_144997.7(FLCN):c.1519C>T (p.Leu507Phe) rs1360467783
NM_144997.7(FLCN):c.1547A>G (p.Lys516Arg) rs2046824022
NM_144997.7(FLCN):c.1709G>T (p.Arg570Leu) rs201056799
NM_144997.7(FLCN):c.1715C>A (p.Pro572His) rs1567804824
NM_144997.7(FLCN):c.1733G>A (p.Arg578Gln) rs1048214486
NM_144997.7(FLCN):c.202A>C (p.Ser68Arg) rs587778365
NM_144997.7(FLCN):c.380G>A (p.Arg127Gln) rs1567822604
NM_144997.7(FLCN):c.598C>T (p.Leu200Phe) rs1229735191
NM_144997.7(FLCN):c.614T>C (p.Leu205Pro) rs878855219
NM_144997.7(FLCN):c.718TCGCTGACA[1] (p.241LTS[1]) rs1209487287
NM_144997.7(FLCN):c.728C>T (p.Ser243Leu) rs1026067642
NM_144997.7(FLCN):c.798C>T (p.Gly266=) rs2047092959
NM_144997.7(FLCN):c.79G>T (p.Ala27Ser) rs779449668
NM_144997.7(FLCN):c.833C>G (p.Pro278Arg) rs748031634

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