ClinVar Miner

List of variants in gene combination IFT80, TRIM59-IFT80 reported as likely benign for bone disorder

Included ClinVar conditions (1350):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 205
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HGVS dbSNP gnomAD frequency
NM_020800.3(IFT80):c.371-10C>A rs188321058 0.00420
NM_020800.3(IFT80):c.*1089T>C rs181651029 0.00377
NM_020800.3(IFT80):c.1864G>A (p.Ala622Thr) rs138161346 0.00241
NM_020800.3(IFT80):c.880G>A (p.Val294Ile) rs148926415 0.00224
NM_020800.3(IFT80):c.897G>A (p.Val299=) rs145776235 0.00156
NM_020800.3(IFT80):c.846T>C (p.Thr282=) rs141134950 0.00028
NM_020800.3(IFT80):c.371-19T>G rs557249203 0.00027
NM_020800.3(IFT80):c.2158C>A (p.Gln720Lys) rs201820395 0.00021
NM_020800.3(IFT80):c.213A>C (p.Val71=) rs560970159 0.00017
NM_020800.3(IFT80):c.2049C>T (p.Gly683=) rs367915575 0.00016
NM_020800.3(IFT80):c.640-8T>A rs770339585 0.00016
NM_020800.3(IFT80):c.912G>A (p.Glu304=) rs199575501 0.00016
NM_020800.3(IFT80):c.2099+10A>G rs376944901 0.00014
NM_020800.3(IFT80):c.640-4G>A rs376056124 0.00014
NM_020800.3(IFT80):c.807T>C (p.Thr269=) rs372419950 0.00014
NM_020800.3(IFT80):c.1678A>G (p.Asn560Asp) rs202145480 0.00011
NM_020800.3(IFT80):c.1350G>A (p.Pro450=) rs201146135 0.00010
NM_020800.3(IFT80):c.2289A>G (p.Gln763=) rs142438830 0.00009
NM_020800.3(IFT80):c.550-16T>C rs773225164 0.00009
NM_020800.3(IFT80):c.804C>T (p.Asn268=) rs375407595 0.00008
NM_020800.3(IFT80):c.1664+16G>A rs371952748 0.00007
NM_020800.3(IFT80):c.2142A>T (p.Thr714=) rs751917876 0.00007
NM_020800.3(IFT80):c.2224-9C>T rs752574778 0.00007
NM_020800.3(IFT80):c.38-4A>G rs368059086 0.00007
NM_020800.3(IFT80):c.1380+15C>A rs772668269 0.00006
NM_020800.3(IFT80):c.381T>C (p.Asp127=) rs369785345 0.00006
NM_020800.3(IFT80):c.1076+8T>C rs778101637 0.00005
NM_020800.3(IFT80):c.2099+4A>G rs754398043 0.00005
NM_020800.3(IFT80):c.2156G>A (p.Arg719His) rs551983792 0.00005
NM_020800.3(IFT80):c.2286G>A (p.Glu762=) rs774118255 0.00005
NM_020800.3(IFT80):c.468C>T (p.Gly156=) rs145679417 0.00005
NM_020800.3(IFT80):c.1077-8T>C rs184413952 0.00004
NM_020800.3(IFT80):c.1104A>T (p.Ile368=) rs369114064 0.00004
NM_020800.3(IFT80):c.1151+14T>C rs549769036 0.00004
NM_020800.3(IFT80):c.1516+17A>G rs375692165 0.00004
NM_020800.3(IFT80):c.1545C>T (p.Asn515=) rs376003348 0.00004
NM_020800.3(IFT80):c.1386A>G (p.Glu462=) rs1039675371 0.00003
NM_020800.3(IFT80):c.2034A>T (p.Val678=) rs773068068 0.00003
NM_020800.3(IFT80):c.2307C>T (p.Ser769=) rs565364572 0.00003
NM_020800.3(IFT80):c.371-20A>T rs1225608232 0.00003
NM_020800.3(IFT80):c.1316-4del rs758421505 0.00002
NM_020800.3(IFT80):c.1320C>A (p.Ile440=) rs746090893 0.00002
NM_020800.3(IFT80):c.1381-15T>A rs753249289 0.00002
NM_020800.3(IFT80):c.1665-6del rs747849008 0.00002
NM_020800.3(IFT80):c.1053G>A (p.Thr351=) rs746236656 0.00001
NM_020800.3(IFT80):c.1151+15T>A rs1334712064 0.00001
NM_020800.3(IFT80):c.1151+8A>G rs759719560 0.00001
NM_020800.3(IFT80):c.1215A>G (p.Ser405=) rs761190913 0.00001
NM_020800.3(IFT80):c.1293A>T (p.Ile431=) rs1716374776 0.00001
NM_020800.3(IFT80):c.1315+8T>C rs765339125 0.00001
NM_020800.3(IFT80):c.1326C>T (p.Leu442=) rs886058131 0.00001
NM_020800.3(IFT80):c.1341C>T (p.Thr447=) rs779074288 0.00001
NM_020800.3(IFT80):c.1554C>T (p.Cys518=) rs1163987189 0.00001
NM_020800.3(IFT80):c.1560C>T (p.Ile520=) rs572926587 0.00001
NM_020800.3(IFT80):c.156G>A (p.Lys52=) rs746919440 0.00001
NM_020800.3(IFT80):c.1664+15C>T rs752199749 0.00001
NM_020800.3(IFT80):c.1664+8T>C rs755731425 0.00001
NM_020800.3(IFT80):c.1665-15T>C rs749606176 0.00001
NM_020800.3(IFT80):c.1962T>C (p.Asn654=) rs757868715 0.00001
NM_020800.3(IFT80):c.2151T>A (p.Ala717=) rs749975436 0.00001
NM_020800.3(IFT80):c.260-9T>G rs1366678504 0.00001
NM_020800.3(IFT80):c.348T>C (p.Tyr116=) rs1223074347 0.00001
NM_020800.3(IFT80):c.37+20A>G rs1382715287 0.00001
NM_020800.3(IFT80):c.371-11T>C rs1339121948 0.00001
NM_020800.3(IFT80):c.371-7T>C rs773095033 0.00001
NM_020800.3(IFT80):c.440-12T>G rs748442129 0.00001
NM_020800.3(IFT80):c.440-8T>A rs367575772 0.00001
NM_020800.3(IFT80):c.612A>G (p.Leu204=) rs1359553849 0.00001
NM_020800.3(IFT80):c.639+5A>G rs527856744 0.00001
NM_020800.3(IFT80):c.819T>C (p.Phe273=) rs1576803474 0.00001
NM_020800.3(IFT80):c.837C>T (p.Ile279=) rs750697170 0.00001
NM_020800.3(IFT80):c.939G>A (p.Thr313=) rs763666588 0.00001
NM_020800.3(IFT80):c.958-7T>C rs766913544 0.00001
NM_020800.3(IFT80):c.991C>T (p.Leu331=) rs920853278 0.00001
NM_020800.3(IFT80):c.1038C>T (p.His346=)
NM_020800.3(IFT80):c.1068C>T (p.Tyr356=)
NM_020800.3(IFT80):c.1080G>A (p.Thr360=)
NM_020800.3(IFT80):c.1086C>T (p.Asn362=)
NM_020800.3(IFT80):c.1140G>T (p.Leu380=)
NM_020800.3(IFT80):c.1152-13C>A
NM_020800.3(IFT80):c.1152-7T>G
NM_020800.3(IFT80):c.1167A>G (p.Val389=) rs2108267310
NM_020800.3(IFT80):c.1200A>G (p.Glu400=) rs2108267274
NM_020800.3(IFT80):c.1215A>C (p.Ser405=)
NM_020800.3(IFT80):c.1224A>G (p.Lys408=) rs2108267227
NM_020800.3(IFT80):c.1281T>C (p.Asp427=) rs1716376329
NM_020800.3(IFT80):c.12G>A (p.Lys4=)
NM_020800.3(IFT80):c.1315+10_1315+17dup
NM_020800.3(IFT80):c.1315+14T>C
NM_020800.3(IFT80):c.1315+17A>G rs971761468
NM_020800.3(IFT80):c.1320C>T (p.Ile440=) rs746090893
NM_020800.3(IFT80):c.1326C>G (p.Leu442=) rs886058131
NM_020800.3(IFT80):c.1350G>C (p.Pro450=) rs201146135
NM_020800.3(IFT80):c.1380+10A>G rs1256481351
NM_020800.3(IFT80):c.1380+12T>A
NM_020800.3(IFT80):c.1380+15C>T
NM_020800.3(IFT80):c.1381-20A>C
NM_020800.3(IFT80):c.1381-9A>C
NM_020800.3(IFT80):c.141A>G (p.Thr47=)
NM_020800.3(IFT80):c.1473T>C (p.Thr491=)
NM_020800.3(IFT80):c.1516+18C>T rs1714757221
NM_020800.3(IFT80):c.1517-10T>C
NM_020800.3(IFT80):c.1517-11T>C
NM_020800.3(IFT80):c.1517-9_1517-7del rs2108231566
NM_020800.3(IFT80):c.1635G>A (p.Leu545=)
NM_020800.3(IFT80):c.1665-11T>C rs2108229213
NM_020800.3(IFT80):c.1665-12T>A rs908547988
NM_020800.3(IFT80):c.1689T>A (p.Ile563=)
NM_020800.3(IFT80):c.1738C>T (p.Leu580=) rs750185428
NM_020800.3(IFT80):c.1761A>G (p.Pro587=)
NM_020800.3(IFT80):c.1797A>G (p.Ser599=) rs2108228989
NM_020800.3(IFT80):c.1815G>A (p.Val605=)
NM_020800.3(IFT80):c.1818A>G (p.Arg606=)
NM_020800.3(IFT80):c.1836+20C>T
NM_020800.3(IFT80):c.1836+8A>G
NM_020800.3(IFT80):c.1837-13T>C
NM_020800.3(IFT80):c.1837-6_1837-2del rs780412409
NM_020800.3(IFT80):c.1845C>T (p.Thr615=)
NM_020800.3(IFT80):c.189C>T (p.His63=)
NM_020800.3(IFT80):c.1926+11A>G rs531201934
NM_020800.3(IFT80):c.1926+11A>T
NM_020800.3(IFT80):c.1926+13_1926+14inv
NM_020800.3(IFT80):c.2025T>G (p.Ala675=)
NM_020800.3(IFT80):c.2040T>A (p.Leu680=) rs2108225990
NM_020800.3(IFT80):c.2043G>A (p.Gln681=)
NM_020800.3(IFT80):c.2050C>T (p.Leu684Phe)
NM_020800.3(IFT80):c.2061A>G (p.Gln687=)
NM_020800.3(IFT80):c.2073C>A (p.Ile691=) rs1441275758
NM_020800.3(IFT80):c.2085C>A (p.Leu695=)
NM_020800.3(IFT80):c.2099+19A>C rs539564457
NM_020800.3(IFT80):c.2100-13T>C
NM_020800.3(IFT80):c.2100-17T>C
NM_020800.3(IFT80):c.2103A>G (p.Ala701=)
NM_020800.3(IFT80):c.2223+11C>G
NM_020800.3(IFT80):c.2223+15A>G
NM_020800.3(IFT80):c.2223+20G>A rs115849906
NM_020800.3(IFT80):c.2224-10del rs58665245
NM_020800.3(IFT80):c.2224-13_2224-10del rs58665245
NM_020800.3(IFT80):c.2224-18T>C rs1300785034
NM_020800.3(IFT80):c.2224-20_2224-17del
NM_020800.3(IFT80):c.2224-20dup rs397969922
NM_020800.3(IFT80):c.2224-7A>G
NM_020800.3(IFT80):c.2229A>G (p.Gln743=)
NM_020800.3(IFT80):c.2244A>G (p.Lys748=) rs769905264
NM_020800.3(IFT80):c.2292A>G (p.Ser764=) rs376683399
NM_020800.3(IFT80):c.2322T>C (p.Gly774=)
NM_020800.3(IFT80):c.24A>G (p.Leu8=)
NM_020800.3(IFT80):c.259+16_259+18del rs2108404186
NM_020800.3(IFT80):c.260-14G>A
NM_020800.3(IFT80):c.260-4T>G
NM_020800.3(IFT80):c.260-8T>G
NM_020800.3(IFT80):c.282G>A (p.Lys94=) rs548358266
NM_020800.3(IFT80):c.332C>T (p.Ala111Val) rs557375681
NM_020800.3(IFT80):c.351A>G (p.Glu117=) rs2108396942
NM_020800.3(IFT80):c.360A>G (p.Ala120=) rs2108396922
NM_020800.3(IFT80):c.37+15C>T rs1483835849
NM_020800.3(IFT80):c.37+16T>A
NM_020800.3(IFT80):c.370+20G>A
NM_020800.3(IFT80):c.38-17C>T
NM_020800.3(IFT80):c.38-9dup
NM_020800.3(IFT80):c.387A>G (p.Gln129=)
NM_020800.3(IFT80):c.396T>C (p.Ile132=)
NM_020800.3(IFT80):c.439+12A>C
NM_020800.3(IFT80):c.439+14T>C
NM_020800.3(IFT80):c.440-17C>A
NM_020800.3(IFT80):c.440-18T>C
NM_020800.3(IFT80):c.440-22_440-18del
NM_020800.3(IFT80):c.440-4A>G
NM_020800.3(IFT80):c.447A>G (p.Pro149=) rs2108377944
NM_020800.3(IFT80):c.462G>C (p.Ala154=) rs34182424
NM_020800.3(IFT80):c.483G>A (p.Lys161=) rs886058133
NM_020800.3(IFT80):c.546G>A (p.Leu182=) rs543233802
NM_020800.3(IFT80):c.549+7C>G
NM_020800.3(IFT80):c.550-14_550-12del
NM_020800.3(IFT80):c.550-18del
NM_020800.3(IFT80):c.550-4A>T rs769891425
NM_020800.3(IFT80):c.60G>T (p.Val20=) rs201088893
NM_020800.3(IFT80):c.639+10G>A rs1027164775
NM_020800.3(IFT80):c.639+18T>C
NM_020800.3(IFT80):c.639+9T>A
NM_020800.3(IFT80):c.639+9T>C rs968428120
NM_020800.3(IFT80):c.640-11T>C
NM_020800.3(IFT80):c.654C>T (p.Tyr218=)
NM_020800.3(IFT80):c.657C>T (p.Gly219=) rs1195919168
NM_020800.3(IFT80):c.663A>G (p.Pro221=)
NM_020800.3(IFT80):c.727T>C (p.Leu243=) rs2108360164
NM_020800.3(IFT80):c.744G>A (p.Ser248=) rs779731718
NM_020800.3(IFT80):c.744G>T (p.Ser248=)
NM_020800.3(IFT80):c.759C>T (p.Arg253=) rs2108360089
NM_020800.3(IFT80):c.777+16G>A rs1462707815
NM_020800.3(IFT80):c.778-16G>T
NM_020800.3(IFT80):c.778-17T>G
NM_020800.3(IFT80):c.778-4C>T rs760577994
NM_020800.3(IFT80):c.778-7C>T rs1269497069
NM_020800.3(IFT80):c.810C>A (p.Gly270=) rs752091335
NM_020800.3(IFT80):c.855T>C (p.Ala285=)
NM_020800.3(IFT80):c.873A>G (p.Gly291=)
NM_020800.3(IFT80):c.930A>G (p.Val310=)
NM_020800.3(IFT80):c.951C>T (p.Ala317=)
NM_020800.3(IFT80):c.957+17A>T
NM_020800.3(IFT80):c.957+20T>C
NM_020800.3(IFT80):c.957+8T>C
NM_020800.3(IFT80):c.958-15T>C
NM_020800.3(IFT80):c.958-8T>A
NM_020800.3(IFT80):c.999C>T (p.Phe333=) rs765112290

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