ClinVar Miner

List of variants in gene combination POMGNT1, TSPAN1

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Gene type:
ClinVar version:
Total variants: 284
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HGVS dbSNP
NC_000001.10:g.(?_46654371)_(46655681_?)del
NC_000001.10:g.(?_46654371)_(46663513_?)dup
NC_000001.10:g.(?_46656135)_(46656466_?)del
NC_000001.10:g.(?_46656135)_(46656466_?)dup
NM_001243766.1(POMGNT1):c.1962_1964TCC[1] (p.Pro656del) rs780919404
NM_001243766.1(POMGNT1):c.1985+2_1985+5del rs1553162554
NM_001243766.1(POMGNT1):c.2031_2057del (p.Glu678_Leu686del) rs754791169
NM_001243766.1(POMGNT1):c.2100_2101dup (p.Ala701fs) rs940315351
NM_001243766.1(POMGNT1):c.2147C>T (p.Ala716Val) rs148903585
NM_001243766.1(POMGNT1):c.2195G>A (p.Trp732Ter) rs866924336
NM_001243766.1(POMGNT1):c.2196G>A (p.Trp732Ter) rs764840485
NM_001243766.1(POMGNT1):c.2209del (p.Leu737fs) rs1553162438
NM_001243766.1(POMGNT1):c.2227C>T (p.Gln743Ter) rs769094628
NM_001243766.1(POMGNT1):c.794G>A (p.Arg265His) rs386834010
NM_017739.3(POMGNT1):c.1001_1002del (p.Thr334fs)
NM_017739.3(POMGNT1):c.1007T>C (p.Phe336Ser) rs886046385
NM_017739.3(POMGNT1):c.1010T>C (p.Ile337Thr) rs138745073
NM_017739.3(POMGNT1):c.1011dup (p.Asp338Ter) rs751254522
NM_017739.3(POMGNT1):c.1014C>T (p.Asp338=) rs780555791
NM_017739.3(POMGNT1):c.1015G>T (p.Gly339Cys) rs1553163451
NM_017739.3(POMGNT1):c.1027-2_1027-1del rs1057516536
NM_017739.3(POMGNT1):c.1027-44A>G rs7527668
NM_017739.3(POMGNT1):c.1050G>T (p.Leu350=) rs886043076
NM_017739.3(POMGNT1):c.1077T>C (p.Thr359=) rs886042244
NM_017739.3(POMGNT1):c.1082T>C (p.Ile361Thr) rs1553163380
NM_017739.3(POMGNT1):c.1091A>G (p.Lys364Arg) rs1557673272
NM_017739.3(POMGNT1):c.1099C>T (p.Arg367Cys) rs36038536
NM_017739.3(POMGNT1):c.1101C>T (p.Arg367=) rs775495503
NM_017739.3(POMGNT1):c.1102_1103GT[1] (p.Gln370fs) rs1553163360
NM_017739.3(POMGNT1):c.1110+9T>C rs1553163359
NM_017739.3(POMGNT1):c.1111-23C>T rs2292486
NM_017739.3(POMGNT1):c.1111-6T>C rs751751349
NM_017739.3(POMGNT1):c.1113del (p.Tyr372fs) rs1057517369
NM_017739.3(POMGNT1):c.1139T>C (p.Phe380Ser) rs886044094
NM_017739.3(POMGNT1):c.1142A>G (p.Asn381Ser) rs140846775
NM_017739.3(POMGNT1):c.1151C>G (p.Pro384Arg)
NM_017739.3(POMGNT1):c.1152+2T>C rs1553163335
NM_017739.3(POMGNT1):c.1152G>A (p.Pro384=) rs760312462
NM_017739.3(POMGNT1):c.1153-8C>T rs1557672738
NM_017739.3(POMGNT1):c.1157C>T (p.Ala386Val) rs778179887
NM_017739.3(POMGNT1):c.1160A>G (p.Lys387Arg)
NM_017739.3(POMGNT1):c.1161G>T (p.Lys387Asn)
NM_017739.3(POMGNT1):c.1167T>C (p.Ala389=) rs183698543
NM_017739.3(POMGNT1):c.1173T>C (p.Val391=) rs142739678
NM_017739.3(POMGNT1):c.1195G>A (p.Ala399Thr) rs1276215978
NM_017739.3(POMGNT1):c.1198G>C (p.Val400Leu)
NM_017739.3(POMGNT1):c.1212-1G>C rs1553163254
NM_017739.3(POMGNT1):c.1212-3_1212-2del rs1064797111
NM_017739.3(POMGNT1):c.1212-4T>G rs778941358
NM_017739.3(POMGNT1):c.1212-66T>C
NM_017739.3(POMGNT1):c.1212-81C>T
NM_017739.3(POMGNT1):c.1220G>A (p.Ser407Asn) rs749285030
NM_017739.3(POMGNT1):c.1257G>A (p.Leu419=) rs41292143
NM_017739.3(POMGNT1):c.1264A>C (p.Ile422Leu) rs1553163234
NM_017739.3(POMGNT1):c.1274G>C (p.Trp425Ser) rs386834011
NM_017739.3(POMGNT1):c.1284+2_1284+19del rs1057516409
NM_017739.3(POMGNT1):c.1284+8G>A rs761259999
NM_017739.3(POMGNT1):c.1284+9G>C rs565797493
NM_017739.3(POMGNT1):c.1285-2A>G rs386834012
NM_017739.3(POMGNT1):c.1285-6C>T rs377292905
NM_017739.3(POMGNT1):c.1287G>C (p.Gly429=) rs1263918453
NM_017739.3(POMGNT1):c.1298C>T (p.Thr433Met) rs146097254
NM_017739.3(POMGNT1):c.1305G>A (p.Glu435=) rs1272401946
NM_017739.3(POMGNT1):c.1319T>G (p.Leu440Arg) rs386834013
NM_017739.3(POMGNT1):c.1324C>T (p.Arg442Cys) rs28940869
NM_017739.3(POMGNT1):c.1335del (p.Met446fs) rs1553163206
NM_017739.3(POMGNT1):c.1338G>A (p.Met446Ile)
NM_017739.3(POMGNT1):c.1340_1344CTGGG[2] (p.Trp451fs) rs386834015
NM_017739.3(POMGNT1):c.1342G>C (p.Gly448Arg) rs386834014
NM_017739.3(POMGNT1):c.1379A>C (p.Glu460Ala) rs886043965
NM_017739.3(POMGNT1):c.1406C>T (p.Pro469Leu)
NM_017739.3(POMGNT1):c.1413+1G>A rs587777821
NM_017739.3(POMGNT1):c.1413+1G>C rs587777821
NM_017739.3(POMGNT1):c.1413+1G>T rs587777821
NM_017739.3(POMGNT1):c.1414-11A>C
NM_017739.3(POMGNT1):c.1425G>A (p.Trp475Ter) rs267606961
NM_017739.3(POMGNT1):c.1438C>T (p.Arg480Trp)
NM_017739.3(POMGNT1):c.1454G>A (p.Arg485His) rs544816408
NM_017739.3(POMGNT1):c.1456C>G (p.Arg486Gly) rs534543454
NM_017739.3(POMGNT1):c.1457G>A (p.Arg486Gln) rs753030030
NM_017739.3(POMGNT1):c.1457G>T (p.Arg486Leu) rs753030030
NM_017739.3(POMGNT1):c.1462C>G (p.Arg488Gly) rs727504103
NM_017739.3(POMGNT1):c.1462C>T (p.Arg488Ter)
NM_017739.3(POMGNT1):c.1463G>A (p.Arg488Gln) rs766382416
NM_017739.3(POMGNT1):c.1464A>G (p.Arg488=) rs1157887321
NM_017739.3(POMGNT1):c.1469G>A (p.Cys490Tyr) rs267606960
NM_017739.3(POMGNT1):c.1476C>A (p.Ile492=) rs375432782
NM_017739.3(POMGNT1):c.1478C>G (p.Pro493Arg) rs28942068
NM_017739.3(POMGNT1):c.1490G>A (p.Arg497Gln) rs573518562
NM_017739.3(POMGNT1):c.1505G>C (p.Gly502Ala) rs886037948
NM_017739.3(POMGNT1):c.1509C>T (p.Ile503=) rs370215834
NM_017739.3(POMGNT1):c.1510G>A (p.Val504Ile) rs17102066
NM_017739.3(POMGNT1):c.1513G>A (p.Gly505Ser) rs760705290
NM_017739.3(POMGNT1):c.1526A>G (p.Asn509Ser) rs1557671443
NM_017739.3(POMGNT1):c.1532A>G (p.Tyr511Cys) rs1038054957
NM_017739.3(POMGNT1):c.1536T>C (p.Phe512=) rs367596859
NM_017739.3(POMGNT1):c.1538_1539+2del rs1057516576
NM_017739.3(POMGNT1):c.1539+119A>G
NM_017739.3(POMGNT1):c.1539+1G>A rs138642840
NM_017739.3(POMGNT1):c.1539+1G>T rs138642840
NM_017739.3(POMGNT1):c.1539+1del rs1553163077
NM_017739.3(POMGNT1):c.1539+215T>G
NM_017739.3(POMGNT1):c.1539+319G>T
NM_017739.3(POMGNT1):c.1539C>T (p.His513=) rs569297597
NM_017739.3(POMGNT1):c.1540-16C>T rs10493123
NM_017739.3(POMGNT1):c.1540-2A>G rs386834016
NM_017739.3(POMGNT1):c.1540-6C>T rs770449394
NM_017739.3(POMGNT1):c.1558C>T (p.His520Tyr) rs1557670301
NM_017739.3(POMGNT1):c.1560C>T (p.His520=) rs1057521878
NM_017739.3(POMGNT1):c.1561A>G (p.Lys521Glu)
NM_017739.3(POMGNT1):c.1562del (p.Lys521fs) rs1057517422
NM_017739.3(POMGNT1):c.1569C>T (p.Asn523=) rs1057523859
NM_017739.3(POMGNT1):c.1588C>G (p.Leu530Val) rs1350938422
NM_017739.3(POMGNT1):c.1596T>C (p.Asn532=) rs200730202
NM_017739.3(POMGNT1):c.1604+1G>A rs1553162873
NM_017739.3(POMGNT1):c.1604+2T>C rs1553162872
NM_017739.3(POMGNT1):c.1605-1G>C rs770219373
NM_017739.3(POMGNT1):c.1645C>T (p.Leu549Phe) rs747147491
NM_017739.3(POMGNT1):c.1649+2T>G rs1268759044
NM_017739.3(POMGNT1):c.1649G>A (p.Ser550Asn) rs193919335
NM_017739.3(POMGNT1):c.1650-212G>A
NM_017739.3(POMGNT1):c.1650-4G>A rs1557669478
NM_017739.3(POMGNT1):c.1666G>A (p.Asp556Asn) rs74374973
NM_017739.3(POMGNT1):c.1669C>A (p.His557Asn)
NM_017739.3(POMGNT1):c.1683T>C (p.Pro561=) rs1246120938
NM_017739.3(POMGNT1):c.1692_1693CT[1] (p.Ser565fs) rs1057516903
NM_017739.3(POMGNT1):c.1693T>A (p.Ser565Thr)
NM_017739.3(POMGNT1):c.1695_1698del (p.Phe566fs) rs1057516986
NM_017739.3(POMGNT1):c.1697T>C (p.Phe566Ser)
NM_017739.3(POMGNT1):c.1719del (p.His573fs) rs386834017
NM_017739.3(POMGNT1):c.1721C>T (p.Thr574Ile)
NM_017739.3(POMGNT1):c.1732T>C (p.Phe578Leu) rs1553162740
NM_017739.3(POMGNT1):c.1738C>A (p.Arg580=) rs386834018
NM_017739.3(POMGNT1):c.1738C>T (p.Arg580Ter) rs386834018
NM_017739.3(POMGNT1):c.1741_1745del (p.Met581fs) rs749332339
NM_017739.3(POMGNT1):c.1752_1754TGA[1] (p.Asp586del) rs777715386
NM_017739.3(POMGNT1):c.1769G>A (p.Trp590Ter) rs386834019
NM_017739.3(POMGNT1):c.1783A>G (p.Lys595Glu) rs797045896
NM_017739.3(POMGNT1):c.1785+2T>G rs386834020
NM_017739.3(POMGNT1):c.1785+31C>A rs78405727
NM_017739.3(POMGNT1):c.1785+46C>T rs112610756
NM_017739.3(POMGNT1):c.1786-17C>T rs1209878503
NM_017739.3(POMGNT1):c.1786-1G>A rs1457667479
NM_017739.3(POMGNT1):c.1786-2A>G rs1057517340
NM_017739.3(POMGNT1):c.1786-6C>T rs202028128
NM_017739.3(POMGNT1):c.1786-9C>T
NM_017739.3(POMGNT1):c.1813C>T (p.Arg605Cys) rs886044567
NM_017739.3(POMGNT1):c.1814G>A (p.Arg605His) rs267606962
NM_017739.3(POMGNT1):c.1814G>C (p.Arg605Pro) rs267606962
NM_017739.3(POMGNT1):c.1825C>T (p.Arg609Trp) rs145736350
NM_017739.3(POMGNT1):c.1831C>T (p.Leu611=) rs367848204
NM_017739.3(POMGNT1):c.1832del (p.Leu611fs) rs587777822
NM_017739.3(POMGNT1):c.1842_1844del (p.Leu614del) rs1553162667
NM_017739.3(POMGNT1):c.1848_1850GAA[2] (p.Lys618del) rs1435566919
NM_017739.3(POMGNT1):c.1852A>T (p.Lys618Ter) rs1553162663
NM_017739.3(POMGNT1):c.1855A>T (p.Asn619Tyr) rs374401585
NM_017739.3(POMGNT1):c.1864del (p.Leu622fs) rs386834021
NM_017739.3(POMGNT1):c.1865T>C (p.Leu622Pro) rs377170894
NM_017739.3(POMGNT1):c.1867= (p.Val623=) rs6659553
NM_017739.3(POMGNT1):c.1867G>A (p.Val623Met) rs6659553
NM_017739.3(POMGNT1):c.1876G>A (p.Val626Ile)
NM_017739.3(POMGNT1):c.1876del (p.Val626fs) rs386834022
NM_017739.3(POMGNT1):c.1880C>T (p.Pro627Leu) rs200143169
NM_017739.3(POMGNT1):c.1895+1G>A rs386834024
NM_017739.3(POMGNT1):c.1895+1G>C rs386834024
NM_017739.3(POMGNT1):c.1895+1G>T rs386834024
NM_017739.3(POMGNT1):c.1895+22_1895+23ins22 rs1553162621
NM_017739.3(POMGNT1):c.1895+30A>G rs113174528
NM_017739.3(POMGNT1):c.1895+5_1895+8del rs386834023
NM_017739.3(POMGNT1):c.1895C>G (p.Ser632Ter) rs200471699
NM_017739.3(POMGNT1):c.1896-1G>C rs386834025
NM_017739.3(POMGNT1):c.1905del (p.Lys635fs) rs1553162601
NM_017739.3(POMGNT1):c.1910C>T (p.Pro637Leu)
NM_017739.3(POMGNT1):c.1911C>T (p.Pro637=) rs747815387
NM_017739.3(POMGNT1):c.1919C>T (p.Thr640Ile)
NM_017739.3(POMGNT1):c.1923A>C (p.Pro641=) rs886043958
NM_017739.3(POMGNT1):c.1924A>G (p.Ile642Val) rs757749808
NM_017739.3(POMGNT1):c.1924A>T (p.Ile642Phe)
NM_017739.3(POMGNT1):c.1927T>G (p.Phe643Val) rs199534074
NM_017739.3(POMGNT1):c.1928del (p.Phe643fs) rs386834026
NM_017739.3(POMGNT1):c.1933G>C (p.Glu645Gln) rs778115320
NM_017739.3(POMGNT1):c.1947G>T (p.Lys649Asn) rs144068158
NM_017739.3(POMGNT1):c.1966_1974dup (p.Ala656_Glu658dup) rs1553162587
NM_017739.3(POMGNT1):c.1979C>T (p.Thr660Ile) rs377760450
NM_017739.3(POMGNT1):c.355-27C>T rs76693406
NM_017739.3(POMGNT1):c.355-3T>G rs1553163972
NM_017739.3(POMGNT1):c.355-9A>G rs886042396
NM_017739.3(POMGNT1):c.355G>A (p.Val119Met) rs148498470
NM_017739.3(POMGNT1):c.358C>G (p.Leu120Val) rs373016708
NM_017739.3(POMGNT1):c.359T>G (p.Leu120Arg) rs886037949
NM_017739.3(POMGNT1):c.385C>T (p.Arg129Trp) rs375431575
NM_017739.3(POMGNT1):c.386G>A (p.Arg129Gln) rs770188918
NM_017739.3(POMGNT1):c.396T>C (p.His132=) rs886043409
NM_017739.3(POMGNT1):c.415G>C (p.Ala139Pro) rs764809782
NM_017739.3(POMGNT1):c.418A>G (p.Thr140Ala) rs886042796
NM_017739.3(POMGNT1):c.419C>T (p.Thr140Met)
NM_017739.3(POMGNT1):c.420+5G>T rs1557677090
NM_017739.3(POMGNT1):c.421-13_421-10dup rs772136218
NM_017739.3(POMGNT1):c.421-7C>A rs189274856
NM_017739.3(POMGNT1):c.426C>T (p.His142=) rs374384310
NM_017739.3(POMGNT1):c.427G>A (p.Val143Met)
NM_017739.3(POMGNT1):c.439C>T (p.Arg147Cys)
NM_017739.3(POMGNT1):c.440G>A (p.Arg147His) rs776165339
NM_017739.3(POMGNT1):c.444G>A (p.Val148=) rs142016718
NM_017739.3(POMGNT1):c.447del (p.Phe149fs) rs386834029
NM_017739.3(POMGNT1):c.452C>T (p.Thr151Met) rs886044363
NM_017739.3(POMGNT1):c.453G>A (p.Thr151=) rs146121135
NM_017739.3(POMGNT1):c.458C>G (p.Ser153Ter) rs1048865247
NM_017739.3(POMGNT1):c.461C>T (p.Pro154Leu) rs886043030
NM_017739.3(POMGNT1):c.466G>A (p.Glu156Lys) rs886037947
NM_017739.3(POMGNT1):c.477dup (p.Met160fs) rs1553163920
NM_017739.3(POMGNT1):c.478del (p.Met160fs) rs1057517355
NM_017739.3(POMGNT1):c.486A>G (p.Leu162=) rs138330966
NM_017739.3(POMGNT1):c.503C>T (p.Ala168Val) rs200643988
NM_017739.3(POMGNT1):c.507C>T (p.Pro169=) rs576860809
NM_017739.3(POMGNT1):c.511C>T (p.Arg171Ter)
NM_017739.3(POMGNT1):c.512_517dup (p.Arg171_Val172dup) rs1553163909
NM_017739.3(POMGNT1):c.526A>C (p.Thr176Pro) rs386834030
NM_017739.3(POMGNT1):c.534+15C>T rs141676863
NM_017739.3(POMGNT1):c.534+40C>A rs138588408
NM_017739.3(POMGNT1):c.535-14C>G rs778926136
NM_017739.3(POMGNT1):c.535-7C>T rs375913574
NM_017739.3(POMGNT1):c.549C>T (p.Phe183=) rs140724142
NM_017739.3(POMGNT1):c.550C>T (p.His184Tyr) rs746638187
NM_017739.3(POMGNT1):c.561C>G (p.Asp187Glu) rs886042638
NM_017739.3(POMGNT1):c.565G>T (p.Ala189Ser) rs949714416
NM_017739.3(POMGNT1):c.582G>A (p.Arg194=) rs398124309
NM_017739.3(POMGNT1):c.584G>A (p.Ser195Asn) rs917194053
NM_017739.3(POMGNT1):c.593del (p.Ser198fs) rs386834031
NM_017739.3(POMGNT1):c.594C>G (p.Ser198Arg) rs386834032
NM_017739.3(POMGNT1):c.624C>T (p.Asp208=) rs1553163762
NM_017739.3(POMGNT1):c.626C>T (p.Thr209Ile)
NM_017739.3(POMGNT1):c.630G>T (p.Trp210Cys) rs386834033
NM_017739.3(POMGNT1):c.636C>T (p.Phe212=) rs190057175
NM_017739.3(POMGNT1):c.643C>T (p.Arg215Ter) rs386834034
NM_017739.3(POMGNT1):c.652+19A>G rs1475010799
NM_017739.3(POMGNT1):c.652+1G>A rs386834035
NM_017739.3(POMGNT1):c.652+1G>T
NM_017739.3(POMGNT1):c.652+6G>A rs369289384
NM_017739.3(POMGNT1):c.652+8C>T rs778376741
NM_017739.3(POMGNT1):c.653-2A>C rs1553163721
NM_017739.3(POMGNT1):c.656C>T (p.Pro219Leu) rs1244157163
NM_017739.3(POMGNT1):c.664G>A (p.Gly222Arg) rs146965084
NM_017739.3(POMGNT1):c.667G>A (p.Glu223Lys) rs386834036
NM_017739.3(POMGNT1):c.681A>G (p.Lys227=) rs2292487
NM_017739.3(POMGNT1):c.689C>G (p.Ala230Gly) rs921366442
NM_017739.3(POMGNT1):c.698C>T (p.Ser233Phe) rs569061665
NM_017739.3(POMGNT1):c.706G>C (p.Asp236His) rs201525710
NM_017739.3(POMGNT1):c.751+10G>A rs200759272
NM_017739.3(POMGNT1):c.751+1G>A rs1247668825
NM_017739.3(POMGNT1):c.751+4G>C
NM_017739.3(POMGNT1):c.751+8T>C rs1553163692
NM_017739.3(POMGNT1):c.753G>T (p.Glu251Asp)
NM_017739.3(POMGNT1):c.758A>T (p.Glu253Val) rs886043972
NM_017739.3(POMGNT1):c.788G>A (p.Arg263His) rs146078296
NM_017739.3(POMGNT1):c.794G>C (p.Arg265Pro) rs386834010
NM_017739.3(POMGNT1):c.797G>A (p.Arg266Gln) rs1040105441
NM_017739.3(POMGNT1):c.806G>A (p.Cys269Tyr) rs386834037
NM_017739.3(POMGNT1):c.813A>C (p.Lys271Asn) rs757156888
NM_017739.3(POMGNT1):c.821G>A (p.Gly274Asp) rs1557674820
NM_017739.3(POMGNT1):c.839G>A (p.Ser280Asn) rs142485035
NM_017739.3(POMGNT1):c.860T>G (p.Ile287Ser) rs200863680
NM_017739.3(POMGNT1):c.861C>T (p.Ile287=) rs764747122
NM_017739.3(POMGNT1):c.875del (p.Asp292fs) rs1057517247
NM_017739.3(POMGNT1):c.879+1G>C rs1553163590
NM_017739.3(POMGNT1):c.879+2T>C rs1057516318
NM_017739.3(POMGNT1):c.879+5G>A rs386834038
NM_017739.3(POMGNT1):c.879+5G>T rs386834038
NM_017739.3(POMGNT1):c.880-1G>A rs1317832573
NM_017739.3(POMGNT1):c.880-2A>G rs1057516830
NM_017739.3(POMGNT1):c.880-39G>C rs115804669
NM_017739.3(POMGNT1):c.880-4A>C rs1553163534
NM_017739.3(POMGNT1):c.888C>A (p.Asp296Glu) rs369970994
NM_017739.3(POMGNT1):c.908C>T (p.Pro303Leu)
NM_017739.3(POMGNT1):c.927del (p.Asn310fs) rs1557674267
NM_017739.3(POMGNT1):c.931C>T (p.Arg311Ter) rs386834039
NM_017739.3(POMGNT1):c.932G>A (p.Arg311Gln) rs193919336
NM_017739.3(POMGNT1):c.951-52A>G
NM_017739.3(POMGNT1):c.958C>T (p.Arg320Cys) rs373777515
NM_017739.3(POMGNT1):c.959G>T (p.Arg320Leu) rs368653589
NM_017739.3(POMGNT1):c.960C>G (p.Arg320=) rs146933218
NM_017739.3(POMGNT1):c.982dup (p.Val328fs) rs386834040
NM_017739.3(POMGNT1):c.987del (p.Pro330fs) rs1057516955
NM_017739.3(POMGNT1):c.991C>T (p.Gln331Ter) rs1557673817

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