ClinVar Miner

List of variants in gene NME8 reported as uncertain significance for ciliopathy

Included ClinVar conditions (272):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 186
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HGVS dbSNP gnomAD frequency
NM_016616.5(NME8):c.610A>G (p.Ile204Val) rs146777129 0.00094
NM_016616.5(NME8):c.88A>G (p.Thr30Ala) rs199920317 0.00053
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.1519A>G (p.Lys507Glu) rs148302107 0.00021
NM_016616.5(NME8):c.1689C>G (p.Asn563Lys) rs138317061 0.00017
NM_016616.5(NME8):c.743C>A (p.Pro248His) rs199973571 0.00014
NM_016616.5(NME8):c.569C>G (p.Thr190Arg) rs149877831 0.00011
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.679G>A (p.Val227Ile) rs367666545 0.00006
NM_016616.5(NME8):c.829T>C (p.Tyr277His) rs138867361 0.00006
NM_016616.5(NME8):c.1097A>G (p.Glu366Gly) rs762153775 0.00005
NM_016616.5(NME8):c.1735A>G (p.Asn579Asp) rs775868906 0.00005
NM_016616.5(NME8):c.1269G>A (p.Met423Ile) rs761626831 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.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.742C>A (p.Pro248Thr) rs201277639 0.00003
NM_016616.5(NME8):c.1277T>A (p.Leu426Ter) rs121918300 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.401C>T (p.Pro134Leu) rs369201077 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.1231G>A (p.Glu411Lys) rs778757785 0.00001
NM_016616.5(NME8):c.1588G>C (p.Ala530Pro) rs536891365 0.00001
NM_016616.5(NME8):c.270+5G>A rs1263698487 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.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.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.(?_37889849)_(37936714_?)del
NC_000007.13:g.(?_37934048)_(37936694_?)dup
NM_016616.4(NME8):c.1400-?_*15+?dup
NM_016616.5(NME8):c.1006C>T (p.Arg336Cys)
NM_016616.5(NME8):c.1007G>C (p.Arg336Pro) rs62001869
NM_016616.5(NME8):c.1017del (p.Asp340fs)
NM_016616.5(NME8):c.1061C>T (p.Ser354Leu)
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.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.1175A>G (p.Asn392Ser)
NM_016616.5(NME8):c.1208C>G (p.Pro403Arg)
NM_016616.5(NME8):c.1216G>T (p.Val406Phe)
NM_016616.5(NME8):c.1226C>T (p.Ala409Val)
NM_016616.5(NME8):c.1255G>A (p.Ala419Thr)
NM_016616.5(NME8):c.125G>T (p.Cys42Phe)
NM_016616.5(NME8):c.1265C>G (p.Ala422Gly)
NM_016616.5(NME8):c.1265C>T (p.Ala422Val)
NM_016616.5(NME8):c.1280C>T (p.Pro427Leu)
NM_016616.5(NME8):c.1289A>G (p.Gln430Arg)
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.1354A>G (p.Ser452Gly)
NM_016616.5(NME8):c.1359_1362dup (p.Gly455fs)
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.1447G>T (p.Val483Leu)
NM_016616.5(NME8):c.144A>T (p.Leu48Phe)
NM_016616.5(NME8):c.1499T>C (p.Val500Ala)
NM_016616.5(NME8):c.1510G>A (p.Asp504Asn)
NM_016616.5(NME8):c.151A>T (p.Lys51Ter) rs2131937755
NM_016616.5(NME8):c.1536G>T (p.Met512Ile)
NM_016616.5(NME8):c.1539A>T (p.Leu513Phe)
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.1556T>C (p.Met519Thr)
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.1601G>A (p.Arg534Gln) rs186068152
NM_016616.5(NME8):c.161_162insCTGAAAAAAT (p.Asn54_Glu55insTer)
NM_016616.5(NME8):c.1621C>A (p.Pro541Thr)
NM_016616.5(NME8):c.1621C>T (p.Pro541Ser)
NM_016616.5(NME8):c.1622C>A (p.Pro541Gln)
NM_016616.5(NME8):c.1624G>C (p.Glu542Gln) rs1785238206
NM_016616.5(NME8):c.1636T>G (p.Leu546Val)
NM_016616.5(NME8):c.1645C>T (p.Pro549Ser)
NM_016616.5(NME8):c.1658G>A (p.Arg553Gln)
NM_016616.5(NME8):c.165A>T (p.Glu55Asp) rs2131937781
NM_016616.5(NME8):c.169A>G (p.Asn57Asp)
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.177_178delinsTA (p.Glu60Lys) rs1784427170
NM_016616.5(NME8):c.17G>A (p.Arg6Gln)
NM_016616.5(NME8):c.206C>G (p.Ala69Gly)
NM_016616.5(NME8):c.229C>A (p.Pro77Thr)
NM_016616.5(NME8):c.244T>A (p.Cys82Ser) rs771622383
NM_016616.5(NME8):c.250C>G (p.Pro84Ala)
NM_016616.5(NME8):c.253G>A (p.Val85Ile)
NM_016616.5(NME8):c.259_264del (p.Leu87_Phe88del)
NM_016616.5(NME8):c.286G>A (p.Glu96Lys)
NM_016616.5(NME8):c.299G>C (p.Gly100Ala)
NM_016616.5(NME8):c.301G>A (p.Ala101Thr)
NM_016616.5(NME8):c.319A>G (p.Asn107Asp)
NM_016616.5(NME8):c.327A>T (p.Lys109Asn)
NM_016616.5(NME8):c.333T>G (p.Ile111Met)
NM_016616.5(NME8):c.344A>G (p.Asp115Gly)
NM_016616.5(NME8):c.367G>T (p.Gly123Cys) rs770842803
NM_016616.5(NME8):c.374T>C (p.Met125Thr)
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+1G>A
NM_016616.5(NME8):c.455-2A>G
NM_016616.5(NME8):c.457G>T (p.Glu153Ter)
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.525_528+1del rs1562831419
NM_016616.5(NME8):c.528+4A>G
NM_016616.5(NME8):c.529-2A>G
NM_016616.5(NME8):c.529A>T (p.Ile177Phe) rs372584831
NM_016616.5(NME8):c.565A>G (p.Lys189Glu)
NM_016616.5(NME8):c.567G>T (p.Lys189Asn)
NM_016616.5(NME8):c.587A>C (p.Gln196Pro)
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.617A>C (p.Asp206Ala)
NM_016616.5(NME8):c.622_623inv (p.Cys208His)
NM_016616.5(NME8):c.623G>A (p.Cys208Tyr)
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.692G>A (p.Ser231Asn)
NM_016616.5(NME8):c.695A>G (p.Lys232Arg)
NM_016616.5(NME8):c.725C>T (p.Pro242Leu)
NM_016616.5(NME8):c.733G>C (p.Asp245His)
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.763C>A (p.Gln255Lys)
NM_016616.5(NME8):c.767C>A (p.Pro256His)
NM_016616.5(NME8):c.77A>G (p.Asn26Ser) rs1554360744
NM_016616.5(NME8):c.793G>T (p.Gly265Ter)
NM_016616.5(NME8):c.818+4T>A
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.856C>G (p.Leu286Val)
NM_016616.5(NME8):c.85T>A (p.Leu29Ile)
NM_016616.5(NME8):c.884A>G (p.Asn295Ser)
NM_016616.5(NME8):c.913C>T (p.Pro305Ser)
NM_016616.5(NME8):c.916G>A (p.Asp306Asn)
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>C (p.Asp33His)
NM_016616.5(NME8):c.97G>T (p.Asp33Tyr)

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