ClinVar Miner

List of variants studied for primary ciliary dyskinesia 6 by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 264
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_016616.5(NME8):c.622T>C (p.Cys208Arg) rs10250905 0.77615
NM_016616.5(NME8):c.1140-10T>G rs1530822 0.45910
NM_016616.5(NME8):c.177C>T (p.Asp59=) rs2598044 0.28287
NM_016616.5(NME8):c.128G>A (p.Arg43Lys) rs2722372 0.28270
NM_016616.5(NME8):c.1603T>C (p.Leu535=) rs3213975 0.22683
NM_016616.5(NME8):c.840A>G (p.Arg280=) rs62001868 0.13654
NM_016616.5(NME8):c.219G>A (p.Val73=) rs3213976 0.08754
NM_016616.5(NME8):c.1013T>C (p.Ile338Thr) rs62001870 0.03629
NM_016616.4(NME8):c.271-27C>T rs117149381 0.01739
NM_016616.5(NME8):c.994+19A>G rs73340816 0.00665
NM_016616.5(NME8):c.271-14C>T rs75531720 0.00526
NM_016616.5(NME8):c.528+11T>C rs117681493 0.00463
NM_016616.5(NME8):c.739G>A (p.Glu247Lys) rs139516225 0.00383
NM_016616.5(NME8):c.1405A>C (p.Ile469Leu) rs147791304 0.00253
NM_016616.5(NME8):c.1545-11G>A rs180830403 0.00234
NM_016616.5(NME8):c.388-3T>C rs141307270 0.00205
NM_016616.5(NME8):c.126C>T (p.Cys42=) rs138311368 0.00201
NM_016616.5(NME8):c.1077A>G (p.Gln359=) rs142516478 0.00120
NM_016616.5(NME8):c.610A>G (p.Ile204Val) rs146777129 0.00094
NM_016616.5(NME8):c.1317C>T (p.Thr439=) rs144273423 0.00084
NM_016616.5(NME8):c.271-3T>C rs191137504 0.00078
NM_016616.5(NME8):c.88A>G (p.Thr30Ala) rs199920317 0.00053
NM_016616.5(NME8):c.84C>T (p.Gly28=) rs376117068 0.00034
NM_016616.5(NME8):c.343G>A (p.Asp115Asn) rs143447596 0.00032
NM_016616.5(NME8):c.1169G>C (p.Arg390Thr) rs202221051 0.00029
NM_016616.5(NME8):c.1139+14T>A rs367945544 0.00024
NM_016616.5(NME8):c.1519A>G (p.Lys507Glu) rs148302107 0.00021
NM_016616.5(NME8):c.454C>T (p.Gln152Ter) rs199901385 0.00020
NM_016616.5(NME8):c.226C>A (p.Gln76Lys) rs142570057 0.00019
NM_016616.5(NME8):c.1689C>G (p.Asn563Lys) rs138317061 0.00017
NM_016616.5(NME8):c.264T>C (p.Phe88=) rs547826686 0.00015
NM_016616.5(NME8):c.1630G>A (p.Ala544Thr) rs140494494 0.00014
NM_016616.5(NME8):c.743C>A (p.Pro248His) rs199973571 0.00014
NM_016616.5(NME8):c.723A>G (p.Glu241=) rs140957789 0.00013
NM_016616.5(NME8):c.285C>T (p.Ile95=) rs201295247 0.00011
NM_016616.5(NME8):c.569C>G (p.Thr190Arg) rs149877831 0.00011
NM_016616.5(NME8):c.486G>A (p.Pro162=) rs199713986 0.00010
NM_016616.5(NME8):c.440C>T (p.Pro147Leu) rs143559107 0.00009
NM_016616.5(NME8):c.529-8A>C rs374765720 0.00009
NM_016616.5(NME8):c.1657C>T (p.Arg553Ter) rs145721687 0.00008
NM_016616.5(NME8):c.1341C>A (p.Phe447Leu) rs201867197 0.00006
NM_016616.5(NME8):c.172G>A (p.Glu58Lys) rs369542497 0.00006
NM_016616.5(NME8):c.224T>C (p.Leu75Ser) rs541494396 0.00006
NM_016616.5(NME8):c.679G>A (p.Val227Ile) rs367666545 0.00006
NM_016616.5(NME8):c.747C>T (p.Asn249=) rs371745920 0.00006
NM_016616.5(NME8):c.829T>C (p.Tyr277His) rs138867361 0.00006
NM_016616.5(NME8):c.915C>T (p.Pro305=) rs146004225 0.00006
NM_016616.5(NME8):c.967C>A (p.Arg323=) rs374455803 0.00006
NM_016616.5(NME8):c.1097A>G (p.Glu366Gly) rs762153775 0.00005
NM_016616.5(NME8):c.1467T>C (p.Thr489=) rs141799366 0.00005
NM_016616.5(NME8):c.1710C>T (p.Asn570=) rs190521566 0.00005
NM_016616.5(NME8):c.1735A>G (p.Asn579Asp) rs775868906 0.00005
NM_016616.5(NME8):c.271-4A>G rs368506712 0.00005
NM_016616.5(NME8):c.1269G>A (p.Met423Ile) rs761626831 0.00004
NM_016616.5(NME8):c.144A>G (p.Leu48=) rs199848335 0.00004
NM_016616.5(NME8):c.1643C>T (p.Ser548Phe) rs199621229 0.00004
NM_016616.5(NME8):c.1648G>T (p.Asp550Tyr) rs772853800 0.00004
NM_016616.5(NME8):c.1729G>A (p.Val577Ile) rs770045061 0.00004
NM_016616.5(NME8):c.198C>T (p.Val66=) rs748684004 0.00004
NM_016616.5(NME8):c.485C>T (p.Pro162Leu) rs200863038 0.00004
NM_016616.5(NME8):c.57G>A (p.Leu19=) rs752092011 0.00004
NM_016616.5(NME8):c.621+8A>T rs748586004 0.00004
NM_016616.5(NME8):c.633A>G (p.Glu211=) rs200050894 0.00004
NM_016616.5(NME8):c.1140-9T>G rs765103564 0.00003
NM_016616.5(NME8):c.1323A>G (p.Glu441=) rs775488207 0.00003
NM_016616.5(NME8):c.23T>A (p.Val8Asp) rs1170478165 0.00003
NM_016616.5(NME8):c.271-11T>A rs760643364 0.00003
NM_016616.5(NME8):c.311C>T (p.Pro104Leu) rs567620217 0.00003
NM_016616.5(NME8):c.738C>T (p.Thr246=) rs201321298 0.00003
NM_016616.5(NME8):c.742C>A (p.Pro248Thr) rs201277639 0.00003
NM_016616.5(NME8):c.1277T>A (p.Leu426Ter) rs121918300 0.00002
NM_016616.5(NME8):c.1302C>T (p.Ser434=) rs369550926 0.00002
NM_016616.5(NME8):c.1459T>A (p.Phe487Ile) rs755043696 0.00002
NM_016616.5(NME8):c.1666T>A (p.Phe556Ile) rs757432890 0.00002
NM_016616.5(NME8):c.1684A>G (p.Lys562Glu) rs370146151 0.00002
NM_016616.5(NME8):c.387+16A>C rs1456014799 0.00002
NM_016616.5(NME8):c.387+7C>A rs751058129 0.00002
NM_016616.5(NME8):c.401C>T (p.Pro134Leu) rs369201077 0.00002
NM_016616.5(NME8):c.51A>G (p.Gln17=) rs764519450 0.00002
NM_016616.5(NME8):c.989G>A (p.Arg330Lys) rs758607187 0.00002
NM_016616.5(NME8):c.1092A>T (p.Glu364Asp) rs1376113644 0.00001
NM_016616.5(NME8):c.1140-12C>G rs1562839603 0.00001
NM_016616.5(NME8):c.1231G>A (p.Glu411Lys) rs778757785 0.00001
NM_016616.5(NME8):c.1247+10A>T rs776719324 0.00001
NM_016616.5(NME8):c.1588G>C (p.Ala530Pro) rs536891365 0.00001
NM_016616.5(NME8):c.171C>T (p.Asn57=) rs180763598 0.00001
NM_016616.5(NME8):c.1761A>G (p.Glu587=) rs750372750 0.00001
NM_016616.5(NME8):c.270+10T>C rs981830782 0.00001
NM_016616.5(NME8):c.270+5G>A rs1263698487 0.00001
NM_016616.5(NME8):c.271-19G>C rs1486411712 0.00001
NM_016616.5(NME8):c.271-5T>C rs1474924619 0.00001
NM_016616.5(NME8):c.33+15T>G rs746181533 0.00001
NM_016616.5(NME8):c.365C>G (p.Ala122Gly) rs968749440 0.00001
NM_016616.5(NME8):c.53G>A (p.Ser18Asn) rs934943362 0.00001
NM_016616.5(NME8):c.603T>C (p.Tyr201=) rs763951968 0.00001
NM_016616.5(NME8):c.608G>A (p.Arg203Gln) rs534679328 0.00001
NM_016616.5(NME8):c.668A>G (p.Tyr223Cys) rs200582084 0.00001
NM_016616.5(NME8):c.706C>T (p.Pro236Ser) rs747458162 0.00001
NM_016616.5(NME8):c.772G>T (p.Val258Phe) rs553733754 0.00001
NM_016616.5(NME8):c.819-3C>G rs1313065577 0.00001
NM_016616.5(NME8):c.82G>T (p.Gly28Cys) rs780172047 0.00001
NM_016616.5(NME8):c.92-9A>G rs113388202 0.00001
NM_016616.5(NME8):c.921T>A (p.Phe307Leu) rs746954043 0.00001
NM_016616.5(NME8):c.994+6G>C rs1060502528 0.00001
NM_016616.5(NME8):c.995A>G (p.Asp332Gly) rs764183917 0.00001
NC_000007.13:g.(?_36429636)_(37956139_?)dup
NC_000007.13:g.(?_37889849)_(37936714_?)del
NC_000007.13:g.(?_37934048)_(37936694_?)dup
NM_016616.4(NME8):c.1400-?_*15+?dup
NM_016616.5(NME8):c.1005G>A (p.Leu335=)
NM_016616.5(NME8):c.1007G>A (p.Arg336His) rs62001869
NM_016616.5(NME8):c.1007G>C (p.Arg336Pro) rs62001869
NM_016616.5(NME8):c.1017del (p.Asp340fs)
NM_016616.5(NME8):c.1059A>G (p.Leu353=) rs2131967257
NM_016616.5(NME8):c.1062G>A (p.Ser354=)
NM_016616.5(NME8):c.1090G>T (p.Glu364Ter)
NM_016616.5(NME8):c.1095T>A (p.Tyr365Ter)
NM_016616.5(NME8):c.1124T>C (p.Ile375Thr)
NM_016616.5(NME8):c.1139+3A>G
NM_016616.5(NME8):c.1139G>T (p.Ser380Ile)
NM_016616.5(NME8):c.1140-8del
NM_016616.5(NME8):c.1141G>A (p.Gly381Ser)
NM_016616.5(NME8):c.1142G>A (p.Gly381Asp)
NM_016616.5(NME8):c.115T>C (p.Cys39Arg)
NM_016616.5(NME8):c.1167G>C (p.Leu389Phe)
NM_016616.5(NME8):c.1173C>T (p.Asp391=)
NM_016616.5(NME8):c.1188C>T (p.Tyr396=)
NM_016616.5(NME8):c.1226C>T (p.Ala409Val)
NM_016616.5(NME8):c.1247+15A>G
NM_016616.5(NME8):c.1255G>A (p.Ala419Thr)
NM_016616.5(NME8):c.125G>T (p.Cys42Phe)
NM_016616.5(NME8):c.1265C>T (p.Ala422Val)
NM_016616.5(NME8):c.1289A>G (p.Gln430Arg)
NM_016616.5(NME8):c.1291T>C (p.Leu431=)
NM_016616.5(NME8):c.1294T>C (p.Tyr432His)
NM_016616.5(NME8):c.1295A>G (p.Tyr432Cys) rs1785074705
NM_016616.5(NME8):c.1299C>T (p.Gly433=) rs1785074828
NM_016616.5(NME8):c.1303G>A (p.Asp435Asn)
NM_016616.5(NME8):c.1319C>A (p.Ala440Asp)
NM_016616.5(NME8):c.1327G>C (p.Glu443Gln)
NM_016616.5(NME8):c.133A>G (p.Met45Val)
NM_016616.5(NME8):c.134T>C (p.Met45Thr)
NM_016616.5(NME8):c.1352A>C (p.Gln451Pro)
NM_016616.5(NME8):c.1395_1396del (p.Glu467fs) rs758258274
NM_016616.5(NME8):c.1399G>C (p.Glu467Gln)
NM_016616.5(NME8):c.1400-9T>G
NM_016616.5(NME8):c.1405A>G (p.Ile469Val)
NM_016616.5(NME8):c.1417G>A (p.Val473Ile)
NM_016616.5(NME8):c.1473G>A (p.Glu491=)
NM_016616.5(NME8):c.1478_1479delinsCT (p.Ile493Thr) rs386712272
NM_016616.5(NME8):c.1499T>C (p.Val500Ala)
NM_016616.5(NME8):c.151A>T (p.Lys51Ter) rs2131937755
NM_016616.5(NME8):c.1536G>T (p.Met512Ile)
NM_016616.5(NME8):c.1543G>A (p.Val515Met)
NM_016616.5(NME8):c.1545G>A (p.Val515=) rs1785236272
NM_016616.5(NME8):c.1549C>G (p.Pro517Ala)
NM_016616.5(NME8):c.1555A>G (p.Met519Val)
NM_016616.5(NME8):c.1563G>A (p.Met521Ile) rs957883475
NM_016616.5(NME8):c.1579A>G (p.Asn527Asp) rs1390857036
NM_016616.5(NME8):c.1589C>T (p.Ala530Val)
NM_016616.5(NME8):c.1600C>G (p.Arg534Gly) rs142525551
NM_016616.5(NME8):c.1600C>T (p.Arg534Ter) rs142525551
NM_016616.5(NME8):c.1601G>A (p.Arg534Gln) rs186068152
NM_016616.5(NME8):c.1611C>A (p.Gly537=)
NM_016616.5(NME8):c.161_162insCTGAAAAAAT (p.Asn54_Glu55insTer)
NM_016616.5(NME8):c.1621C>A (p.Pro541Thr)
NM_016616.5(NME8):c.1624G>C (p.Glu542Gln) rs1785238206
NM_016616.5(NME8):c.1636T>G (p.Leu546Val)
NM_016616.5(NME8):c.1644C>G (p.Ser548=)
NM_016616.5(NME8):c.1658G>A (p.Arg553Gln)
NM_016616.5(NME8):c.165A>T (p.Glu55Asp) rs2131937781
NM_016616.5(NME8):c.1702G>C (p.Ala568Pro)
NM_016616.5(NME8):c.171C>G (p.Asn57Lys) rs180763598
NM_016616.5(NME8):c.1720G>A (p.Ala574Thr)
NM_016616.5(NME8):c.1727A>C (p.Glu576Ala)
NM_016616.5(NME8):c.1737T>C (p.Asn579=)
NM_016616.5(NME8):c.1743C>T (p.Leu581=) rs764326102
NM_016616.5(NME8):c.177_178delinsTA (p.Glu60Lys) rs1784427170
NM_016616.5(NME8):c.229C>A (p.Pro77Thr)
NM_016616.5(NME8):c.240T>C (p.Asp80=)
NM_016616.5(NME8):c.244T>A (p.Cys82Ser) rs771622383
NM_016616.5(NME8):c.24C>G (p.Val8=)
NM_016616.5(NME8):c.250C>G (p.Pro84Ala)
NM_016616.5(NME8):c.258T>C (p.Phe86=)
NM_016616.5(NME8):c.259_264del (p.Leu87_Phe88del)
NM_016616.5(NME8):c.267T>C (p.Ser89=)
NM_016616.5(NME8):c.271-15T>G
NM_016616.5(NME8):c.286G>A (p.Glu96Lys)
NM_016616.5(NME8):c.301G>A (p.Ala101Thr)
NM_016616.5(NME8):c.315T>G (p.Leu105=) rs2131947110
NM_016616.5(NME8):c.319A>G (p.Asn107Asp)
NM_016616.5(NME8):c.327A>T (p.Lys109Asn)
NM_016616.5(NME8):c.33+8T>G rs1554360728
NM_016616.5(NME8):c.330T>G (p.Val110=)
NM_016616.5(NME8):c.333T>G (p.Ile111Met)
NM_016616.5(NME8):c.34-8C>T rs2131937494
NM_016616.5(NME8):c.342C>T (p.Ile114=)
NM_016616.5(NME8):c.367G>T (p.Gly123Cys) rs770842803
NM_016616.5(NME8):c.36A>G (p.Thr12=)
NM_016616.5(NME8):c.382C>T (p.Pro128Ser) rs2131947171
NM_016616.5(NME8):c.410A>T (p.Asp137Val)
NM_016616.5(NME8):c.438dup (p.Pro147fs) rs778583824
NM_016616.5(NME8):c.454+14_454+15insGAA
NM_016616.5(NME8):c.454+15T>C
NM_016616.5(NME8):c.454+16T>C
NM_016616.5(NME8):c.454+17C>T
NM_016616.5(NME8):c.454+1G>A
NM_016616.5(NME8):c.455-2A>G
NM_016616.5(NME8):c.455-5dup
NM_016616.5(NME8):c.457G>T (p.Glu153Ter)
NM_016616.5(NME8):c.459A>G (p.Glu153=)
NM_016616.5(NME8):c.461T>A (p.Leu154Ter) rs1784642730
NM_016616.5(NME8):c.468T>A (p.Ser156Arg) rs760066403
NM_016616.5(NME8):c.469A>G (p.Ile157Val)
NM_016616.5(NME8):c.479T>C (p.Ile160Thr)
NM_016616.5(NME8):c.513A>G (p.Leu171=)
NM_016616.5(NME8):c.525_528+1del rs1562831419
NM_016616.5(NME8):c.528+19C>T
NM_016616.5(NME8):c.528+4A>G
NM_016616.5(NME8):c.529-15A>G
NM_016616.5(NME8):c.529-2A>G
NM_016616.5(NME8):c.529A>T (p.Ile177Phe) rs372584831
NM_016616.5(NME8):c.549T>C (p.Ile183=) rs1464952855
NM_016616.5(NME8):c.565A>G (p.Lys189Glu)
NM_016616.5(NME8):c.567G>T (p.Lys189Asn)
NM_016616.5(NME8):c.596A>G (p.Asn199Ser)
NM_016616.5(NME8):c.607C>T (p.Arg203Ter)
NM_016616.5(NME8):c.60G>C (p.Trp20Cys)
NM_016616.5(NME8):c.621+11T>G
NM_016616.5(NME8):c.622_623inv (p.Cys208His)
NM_016616.5(NME8):c.631G>A (p.Glu211Lys)
NM_016616.5(NME8):c.650T>C (p.Met217Thr)
NM_016616.5(NME8):c.652A>T (p.Thr218Ser)
NM_016616.5(NME8):c.654A>G (p.Thr218=) rs1583632294
NM_016616.5(NME8):c.692G>A (p.Ser231Asn)
NM_016616.5(NME8):c.720C>T (p.Thr240=)
NM_016616.5(NME8):c.725C>T (p.Pro242Leu)
NM_016616.5(NME8):c.726A>G (p.Pro242=)
NM_016616.5(NME8):c.733G>C (p.Asp245His)
NM_016616.5(NME8):c.735C>T (p.Asp245=)
NM_016616.5(NME8):c.748G>A (p.Glu250Lys)
NM_016616.5(NME8):c.749A>G (p.Glu250Gly) rs1554363589
NM_016616.5(NME8):c.751C>T (p.Arg251Ter)
NM_016616.5(NME8):c.759G>A (p.Glu253=)
NM_016616.5(NME8):c.77A>G (p.Asn26Ser) rs1554360744
NM_016616.5(NME8):c.793G>T (p.Gly265Ter)
NM_016616.5(NME8):c.819-20T>C
NM_016616.5(NME8):c.82G>A (p.Gly28Ser)
NM_016616.5(NME8):c.83G>A (p.Gly28Asp)
NM_016616.5(NME8):c.845A>G (p.His282Arg) rs2131960176
NM_016616.5(NME8):c.85T>A (p.Leu29Ile)
NM_016616.5(NME8):c.882T>C (p.Ala294=)
NM_016616.5(NME8):c.884A>G (p.Asn295Ser)
NM_016616.5(NME8):c.91+11T>A
NM_016616.5(NME8):c.91+15del
NM_016616.5(NME8):c.91+16G>A
NM_016616.5(NME8):c.913C>T (p.Pro305Ser)
NM_016616.5(NME8):c.916G>A (p.Asp306Asn)
NM_016616.5(NME8):c.92-19A>G
NM_016616.5(NME8):c.938T>A (p.Met313Lys)
NM_016616.5(NME8):c.953C>G (p.Thr318Arg) rs113903273
NM_016616.5(NME8):c.965T>C (p.Leu322Pro) rs1583637336
NM_016616.5(NME8):c.97G>T (p.Asp33Tyr)
NM_016616.5(NME8):c.995-4T>G

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