ClinVar Miner

List of variants in gene combination POMGNT1, TSPAN1 reported as uncertain significance

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Gene type:
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Total variants: 190
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HGVS dbSNP
NC_000001.10:g.(?_46654371)_(46663513_?)dup
NM_001243766.1(POMGNT1):c.1007T>C (p.Phe336Ser) rs886046385
NM_001243766.1(POMGNT1):c.1010T>C (p.Ile337Thr) rs138745073
NM_001243766.1(POMGNT1):c.1082T>C (p.Ile361Thr) rs1553163380
NM_001243766.1(POMGNT1):c.1091A>G (p.Lys364Arg) rs1557673272
NM_001243766.1(POMGNT1):c.1099C>T (p.Arg367Cys) rs36038536
NM_001243766.1(POMGNT1):c.1101C>T (p.Arg367=) rs775495503
NM_001243766.1(POMGNT1):c.1110+9T>C rs1553163359
NM_001243766.1(POMGNT1):c.1152G>A (p.Pro384=) rs760312462
NM_001243766.1(POMGNT1):c.1160A>G (p.Lys387Arg) rs1351958771
NM_001243766.1(POMGNT1):c.1161G>T (p.Lys387Asn) rs1571656916
NM_001243766.1(POMGNT1):c.1167T>C (p.Ala389=) rs183698543
NM_001243766.1(POMGNT1):c.1198G>C (p.Val400Leu) rs749863346
NM_001243766.1(POMGNT1):c.1284+9G>C rs565797493
NM_001243766.1(POMGNT1):c.1285-2A>G rs386834012
NM_001243766.1(POMGNT1):c.1285-6C>T rs377292905
NM_001243766.1(POMGNT1):c.1287G>C (p.Gly429=) rs1263918453
NM_001243766.1(POMGNT1):c.1338G>A (p.Met446Ile) rs1571655190
NM_001243766.1(POMGNT1):c.1454G>A (p.Arg485His) rs544816408
NM_001243766.1(POMGNT1):c.1456C>G (p.Arg486Gly) rs534543454
NM_001243766.1(POMGNT1):c.1457G>A (p.Arg486Gln) rs753030030
NM_001243766.1(POMGNT1):c.1462C>G (p.Arg488Gly) rs727504103
NM_001243766.1(POMGNT1):c.1463G>A (p.Arg488Gln) rs766382416
NM_001243766.1(POMGNT1):c.1482C>T (p.Asp494=) rs769213562
NM_001243766.1(POMGNT1):c.1490G>A (p.Arg497Gln) rs573518562
NM_001243766.1(POMGNT1):c.1510G>A (p.Val504Ile) rs17102066
NM_001243766.1(POMGNT1):c.1513G>A (p.Gly505Ser) rs760705290
NM_001243766.1(POMGNT1):c.1536T>C (p.Phe512=) rs367596859
NM_001243766.1(POMGNT1):c.1539C>T (p.His513=) rs569297597
NM_001243766.1(POMGNT1):c.1540-6C>T rs770449394
NM_001243766.1(POMGNT1):c.1561A>G (p.Lys521Glu) rs764394085
NM_001243766.1(POMGNT1):c.1588C>G (p.Leu530Val) rs1350938422
NM_001243766.1(POMGNT1):c.1596T>C (p.Asn532=) rs200730202
NM_001243766.1(POMGNT1):c.1666G>A (p.Asp556Asn) rs74374973
NM_001243766.1(POMGNT1):c.1669C>A (p.His557Asn) rs761426941
NM_001243766.1(POMGNT1):c.1693T>A (p.Ser565Thr) rs753688195
NM_001243766.1(POMGNT1):c.1697T>C (p.Phe566Ser) rs765906814
NM_001243766.1(POMGNT1):c.1721C>T (p.Thr574Ile) rs556069604
NM_001243766.1(POMGNT1):c.1738C>A (p.Arg580=) rs386834018
NM_001243766.1(POMGNT1):c.1752_1754TGA[1] (p.Asp586del) rs777715386
NM_001243766.1(POMGNT1):c.1783A>G (p.Lys595Glu) rs797045896
NM_001243766.1(POMGNT1):c.1786-6C>T rs202028128
NM_001243766.1(POMGNT1):c.1825C>T (p.Arg609Trp) rs145736350
NM_001243766.1(POMGNT1):c.1831C>T (p.Leu611=) rs367848204
NM_001243766.1(POMGNT1):c.1848_1850GAA[2] (p.Lys618del) rs1435566919
NM_001243766.1(POMGNT1):c.1855A>T (p.Asn619Tyr) rs374401585
NM_001243766.1(POMGNT1):c.1869+11C>T rs200143169
NM_001243766.1(POMGNT1):c.1869+27G>T rs386834024
NM_001243766.1(POMGNT1):c.1869+7G>A rs199723646
NM_001243766.1(POMGNT1):c.1884C>T (p.Thr628=) rs1467007123
NM_001243766.1(POMGNT1):c.1893C>T (p.His631=) rs748799436
NM_001243766.1(POMGNT1):c.1897A>C (p.Asn633His) rs886043958
NM_001243766.1(POMGNT1):c.1898A>G (p.Asn633Ser) rs757749808
NM_001243766.1(POMGNT1):c.1901T>G (p.Phe634Cys) rs199534074
NM_001243766.1(POMGNT1):c.1907G>C (p.Gly636Ala) rs778115320
NM_001243766.1(POMGNT1):c.1953C>T (p.Asp651=) rs377760450
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.355-3T>G rs1553163972
NM_001243766.1(POMGNT1):c.355G>A (p.Val119Met) rs148498470
NM_001243766.1(POMGNT1):c.385C>T (p.Arg129Trp) rs375431575
NM_001243766.1(POMGNT1):c.386G>A (p.Arg129Gln) rs770188918
NM_001243766.1(POMGNT1):c.419C>T (p.Thr140Met) rs766157232
NM_001243766.1(POMGNT1):c.420G>A (p.Thr140=) rs146237009
NM_001243766.1(POMGNT1):c.421-7C>A rs189274856
NM_001243766.1(POMGNT1):c.427G>A (p.Val143Met) rs755885722
NM_001243766.1(POMGNT1):c.439C>T (p.Arg147Cys) rs780641373
NM_001243766.1(POMGNT1):c.440G>A (p.Arg147His) rs776165339
NM_001243766.1(POMGNT1):c.444G>A (p.Val148=) rs142016718
NM_001243766.1(POMGNT1):c.453G>A (p.Thr151=) rs146121135
NM_001243766.1(POMGNT1):c.486A>G (p.Leu162=) rs138330966
NM_001243766.1(POMGNT1):c.549C>T (p.Phe183=) rs140724142
NM_001243766.1(POMGNT1):c.550C>T (p.His184Tyr) rs746638187
NM_001243766.1(POMGNT1):c.584G>A (p.Ser195Asn) rs917194053
NM_001243766.1(POMGNT1):c.626C>T (p.Thr209Ile) rs1571664089
NM_001243766.1(POMGNT1):c.652+6G>A rs369289384
NM_001243766.1(POMGNT1):c.652+8C>T rs778376741
NM_001243766.1(POMGNT1):c.656C>T (p.Pro219Leu) rs1244157163
NM_001243766.1(POMGNT1):c.689C>G (p.Ala230Gly) rs921366442
NM_001243766.1(POMGNT1):c.698C>T (p.Ser233Phe) rs569061665
NM_001243766.1(POMGNT1):c.706G>C (p.Asp236His) rs201525710
NM_001243766.1(POMGNT1):c.751+4G>C rs768307488
NM_001243766.1(POMGNT1):c.788G>A (p.Arg263His) rs146078296
NM_001243766.1(POMGNT1):c.794G>A (p.Arg265His) rs386834010
NM_001243766.1(POMGNT1):c.813A>C (p.Lys271Asn) rs757156888
NM_001243766.1(POMGNT1):c.821G>A (p.Gly274Asp) rs1557674820
NM_001243766.1(POMGNT1):c.839G>A (p.Ser280Asn) rs142485035
NM_001243766.1(POMGNT1):c.908C>T (p.Pro303Leu) rs753453050
NM_001243766.1(POMGNT1):c.959G>T (p.Arg320Leu) rs368653589
NM_001243766.1(POMGNT1):c.960C>G (p.Arg320=) rs146933218
NM_017739.3(POMGNT1):c.1015G>T (p.Gly339Cys) rs1553163451
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.1111-6T>C rs751751349
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) rs375845761
NM_017739.3(POMGNT1):c.1153-8C>T rs1557672738
NM_017739.3(POMGNT1):c.1157C>T (p.Ala386Val) rs778179887
NM_017739.3(POMGNT1):c.1195G>A (p.Ala399Thr) rs1276215978
NM_017739.3(POMGNT1):c.1220G>A (p.Ser407Asn) rs749285030
NM_017739.3(POMGNT1):c.1264A>C (p.Ile422Leu) rs1553163234
NM_017739.3(POMGNT1):c.1379A>C (p.Glu460Ala) rs886043965
NM_017739.3(POMGNT1):c.1406C>T (p.Pro469Leu) rs769879467
NM_017739.3(POMGNT1):c.1438C>T (p.Arg480Trp) rs1011150724
NM_017739.3(POMGNT1):c.1457G>T (p.Arg486Leu) rs753030030
NM_017739.3(POMGNT1):c.1464A>G (p.Arg488=) rs1157887321
NM_017739.3(POMGNT1):c.1476C>A (p.Ile492=) rs375432782
NM_017739.3(POMGNT1):c.1532A>G (p.Tyr511Cys) rs1038054957
NM_017739.3(POMGNT1):c.1558C>T (p.His520Tyr) rs1557670301
NM_017739.3(POMGNT1):c.1645C>T (p.Leu549Phe) rs747147491
NM_017739.3(POMGNT1):c.1650-4G>A rs1557669478
NM_017739.3(POMGNT1):c.1683T>C (p.Pro561=) rs1246120938
NM_017739.3(POMGNT1):c.1732T>C (p.Phe578Leu) rs1553162740
NM_017739.3(POMGNT1):c.1786-9C>T rs961913683
NM_017739.3(POMGNT1):c.1813C>T (p.Arg605Cys) rs886044567
NM_017739.3(POMGNT1):c.1842_1844del (p.Leu614del) rs1553162667
NM_017739.3(POMGNT1):c.1865T>C (p.Leu622Pro) rs377170894
NM_017739.3(POMGNT1):c.1911C>T (p.Pro637=) rs747815387
NM_017739.3(POMGNT1):c.1924A>T (p.Ile642Phe) rs757749808
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.355-9A>G rs886042396
NM_017739.3(POMGNT1):c.358C>G (p.Leu120Val) rs373016708
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.420+5G>T rs1557677090
NM_017739.3(POMGNT1):c.426C>T (p.His142=) rs374384310
NM_017739.3(POMGNT1):c.452C>T (p.Thr151Met) rs886044363
NM_017739.3(POMGNT1):c.461C>T (p.Pro154Leu) rs886043030
NM_017739.3(POMGNT1):c.503C>T (p.Ala168Val) rs200643988
NM_017739.3(POMGNT1):c.512_517dup (p.Arg171_Val172dup) rs1553163909
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.664G>A (p.Gly222Arg) rs146965084
NM_017739.3(POMGNT1):c.751+1G>A rs1247668825
NM_017739.3(POMGNT1):c.753G>T (p.Glu251Asp) rs751316371
NM_017739.3(POMGNT1):c.758A>T (p.Glu253Val) rs886043972
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.880-4A>C rs1553163534
NM_017739.3(POMGNT1):c.888C>A (p.Asp296Glu) rs369970994
NM_017739.3(POMGNT1):c.927del (p.Asn310fs) rs1557674267
NM_017739.3(POMGNT1):c.958C>T (p.Arg320Cys) rs373777515
NM_017739.4(POMGNT1):c.*207G>A
NM_017739.4(POMGNT1):c.*221G>A
NM_017739.4(POMGNT1):c.*34G>A
NM_017739.4(POMGNT1):c.1102G>A (p.Val368Met)
NM_017739.4(POMGNT1):c.1151C>T (p.Pro384Leu)
NM_017739.4(POMGNT1):c.1152+3G>A
NM_017739.4(POMGNT1):c.1154A>T (p.Glu385Val)
NM_017739.4(POMGNT1):c.1168G>A (p.Val390Met)
NM_017739.4(POMGNT1):c.1201G>A (p.Asp401Asn)
NM_017739.4(POMGNT1):c.1230C>G (p.Ile410Met)
NM_017739.4(POMGNT1):c.1246G>C (p.Asp416His)
NM_017739.4(POMGNT1):c.1344G>T (p.Gly448=)
NM_017739.4(POMGNT1):c.1395G>C (p.Lys465Asn)
NM_017739.4(POMGNT1):c.1414C>A (p.Leu472Ile)
NM_017739.4(POMGNT1):c.1501T>C (p.Phe501Leu)
NM_017739.4(POMGNT1):c.1605-3C>T
NM_017739.4(POMGNT1):c.1698C>T (p.Phe566=)
NM_017739.4(POMGNT1):c.1780G>T (p.Ala594Ser)
NM_017739.4(POMGNT1):c.1814G>T (p.Arg605Leu)
NM_017739.4(POMGNT1):c.1828G>T (p.Gly610Cys)
NM_017739.4(POMGNT1):c.1846C>G (p.Arg616Gly)
NM_017739.4(POMGNT1):c.1846C>T (p.Arg616Trp)
NM_017739.4(POMGNT1):c.1867A>C (p.Met623Leu)
NM_017739.4(POMGNT1):c.1878C>T (p.Val626=)
NM_017739.4(POMGNT1):c.1889C>G (p.Pro630Arg)
NM_017739.4(POMGNT1):c.1911C>G (p.Pro637=)
NM_017739.4(POMGNT1):c.461C>A (p.Pro154His) rs886043030
NM_017739.4(POMGNT1):c.562A>G (p.Thr188Ala)
NM_017739.4(POMGNT1):c.631G>A (p.Ala211Thr)
NM_017739.4(POMGNT1):c.658G>A (p.Val220Ile)
NM_017739.4(POMGNT1):c.752-15G>A
NM_017739.4(POMGNT1):c.772G>A (p.Asp258Asn)
NM_017739.4(POMGNT1):c.790C>T (p.Arg264Cys)
NM_017739.4(POMGNT1):c.862G>A (p.Glu288Lys)
NM_017739.4(POMGNT1):c.910G>A (p.Val304Met)
NM_017739.4(POMGNT1):c.926G>A (p.Gly309Glu)
NM_017739.4(POMGNT1):c.959G>A (p.Arg320His)

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