ClinVar Miner

List of variants in gene GNPTG reported as uncertain significance for not provided

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Gene type:
ClinVar version:
Total variants: 188
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HGVS dbSNP gnomAD frequency
NM_032520.5(GNPTG):c.255G>A (p.Pro85=) rs76594024 0.00606
NM_032520.5(GNPTG):c.741+5C>T rs201263537 0.00183
NM_032520.5(GNPTG):c.525A>C (p.Leu175=) rs144136497 0.00043
NM_032520.5(GNPTG):c.741+6G>A rs371060844 0.00043
NM_032520.5(GNPTG):c.857C>T (p.Thr286Met) rs193302860 0.00043
NM_032520.5(GNPTG):c.472G>A (p.Val158Ile) rs138018487 0.00036
NM_032520.5(GNPTG):c.551T>A (p.Leu184Gln) rs773290124 0.00014
NM_032520.5(GNPTG):c.557G>A (p.Arg186Gln) rs139997459 0.00010
NM_032520.5(GNPTG):c.887G>A (p.Arg296Gln) rs561640998 0.00010
NM_032520.5(GNPTG):c.113T>C (p.Val38Ala) rs372379104 0.00009
NM_032520.5(GNPTG):c.295A>G (p.Asn99Asp) rs143383133 0.00009
NM_032520.5(GNPTG):c.130C>G (p.Pro44Ala) rs771564346 0.00008
NM_032520.5(GNPTG):c.548C>T (p.Ala183Val) rs759248626 0.00006
NM_032520.5(GNPTG):c.799G>A (p.Gly267Ser) rs370064320 0.00006
NM_032520.5(GNPTG):c.112G>A (p.Val38Met) rs935869758 0.00005
NM_032520.5(GNPTG):c.289C>T (p.Arg97Cys) rs753385216 0.00005
NM_032520.5(GNPTG):c.302A>G (p.Tyr101Cys) rs139385234 0.00005
NM_032520.5(GNPTG):c.755T>C (p.Leu252Pro) rs376896298 0.00005
NM_032520.5(GNPTG):c.254C>T (p.Pro85Leu) rs747362604 0.00004
NM_032520.5(GNPTG):c.439C>T (p.Arg147Trp) rs775985395 0.00004
NM_032520.5(GNPTG):c.665C>G (p.Pro222Arg) rs142548931 0.00004
NM_032520.5(GNPTG):c.166T>A (p.Ser56Thr) rs889922749 0.00003
NM_032520.5(GNPTG):c.366G>C (p.Trp122Cys) rs757394606 0.00003
NM_032520.5(GNPTG):c.532C>T (p.Pro178Ser) rs553046300 0.00003
NM_032520.5(GNPTG):c.589G>A (p.Asp197Asn) rs367672512 0.00003
NM_032520.5(GNPTG):c.631A>T (p.Thr211Ser) rs112925416 0.00003
NM_032520.5(GNPTG):c.742-1G>T rs373976323 0.00003
NM_032520.5(GNPTG):c.742-3T>C rs199724765 0.00003
NM_032520.5(GNPTG):c.233C>T (p.Thr78Met) rs200507633 0.00002
NM_032520.5(GNPTG):c.263A>G (p.Asn88Ser) rs775604993 0.00002
NM_032520.5(GNPTG):c.388C>T (p.Arg130Cys) rs761584357 0.00002
NM_032520.5(GNPTG):c.440G>A (p.Arg147Gln) rs374890181 0.00002
NM_032520.5(GNPTG):c.591T>G (p.Asp197Glu) rs927888758 0.00002
NM_032520.5(GNPTG):c.641A>G (p.Glu214Gly) rs768377103 0.00002
NM_032520.5(GNPTG):c.757T>C (p.Ser253Pro) rs759356138 0.00002
NM_032520.5(GNPTG):c.805C>T (p.Pro269Ser) rs1567185562 0.00002
NM_032520.5(GNPTG):c.823+5G>C rs370849658 0.00002
NM_032520.5(GNPTG):c.145C>T (p.Leu49Phe) rs1343539436 0.00001
NM_032520.5(GNPTG):c.233+3G>A rs201566045 0.00001
NM_032520.5(GNPTG):c.246G>C (p.Glu82Asp) rs754595108 0.00001
NM_032520.5(GNPTG):c.260A>G (p.His87Arg) rs769717288 0.00001
NM_032520.5(GNPTG):c.298G>A (p.Ala100Thr) rs770325965 0.00001
NM_032520.5(GNPTG):c.356C>T (p.Thr119Met) rs1471071549 0.00001
NM_032520.5(GNPTG):c.376G>A (p.Gly126Ser) rs775359476 0.00001
NM_032520.5(GNPTG):c.411+4G>A rs751575030 0.00001
NM_032520.5(GNPTG):c.461C>T (p.Pro154Leu) rs754679713 0.00001
NM_032520.5(GNPTG):c.478G>A (p.Ala160Thr) rs756971692 0.00001
NM_032520.5(GNPTG):c.490G>A (p.Glu164Lys) rs766647003 0.00001
NM_032520.5(GNPTG):c.494C>T (p.Thr165Ile) rs113167728 0.00001
NM_032520.5(GNPTG):c.538C>G (p.Leu180Val) rs776105074 0.00001
NM_032520.5(GNPTG):c.623T>G (p.Leu208Trp) rs757003667 0.00001
NM_032520.5(GNPTG):c.650G>A (p.Gly217Asp) rs1438050231 0.00001
NM_032520.5(GNPTG):c.683C>T (p.Thr228Ile) rs754489307 0.00001
NM_032520.5(GNPTG):c.786G>C (p.Leu262Phe) rs754237014 0.00001
NM_032520.5(GNPTG):c.787C>T (p.Leu263Phe) rs1050479247 0.00001
NM_032520.5(GNPTG):c.823G>C (p.Glu275Gln) rs1391028440 0.00001
NM_032520.5(GNPTG):c.843dup (p.His284fs) rs2034958641 0.00001
NM_032520.5(GNPTG):c.856A>G (p.Thr286Ala) rs2034960102 0.00001
NM_032520.5(GNPTG):c.886C>T (p.Arg296Trp) rs150647450 0.00001
NM_032520.5(GNPTG):c.904C>T (p.Arg302Cys) rs775991626 0.00001
NM_032520.5(GNPTG):c.109G>T (p.Gly37Trp)
NM_032520.5(GNPTG):c.111-3T>C
NM_032520.5(GNPTG):c.111-5C>G
NM_032520.5(GNPTG):c.119A>G (p.Asn40Ser) rs2034698570
NM_032520.5(GNPTG):c.130C>A (p.Pro44Thr)
NM_032520.5(GNPTG):c.154A>G (p.Lys52Glu) rs2034699268
NM_032520.5(GNPTG):c.158G>A (p.Arg53Lys)
NM_032520.5(GNPTG):c.176C>G (p.Ser59Cys)
NM_032520.5(GNPTG):c.179-3C>T rs2034884159
NM_032520.5(GNPTG):c.179G>A (p.Gly60Glu) rs2141861695
NM_032520.5(GNPTG):c.180A>T (p.Gly60=)
NM_032520.5(GNPTG):c.181C>A (p.Pro61Thr) rs1406080496
NM_032520.5(GNPTG):c.184G>A (p.Val62Met)
NM_032520.5(GNPTG):c.203C>T (p.Ser68Leu) rs552402857
NM_032520.5(GNPTG):c.218G>A (p.Ser73Asn) rs769323972
NM_032520.5(GNPTG):c.221TGG[1] (p.Val75del) rs1274943476
NM_032520.5(GNPTG):c.223G>C (p.Val75Leu) rs762024309
NM_032520.5(GNPTG):c.233+2dup rs2034886088
NM_032520.5(GNPTG):c.233+4_233+14del rs2034885985
NM_032520.5(GNPTG):c.233+4_233+14dup rs2034885985
NM_032520.5(GNPTG):c.233+5G>C
NM_032520.5(GNPTG):c.233+6T>G rs2141861859
NM_032520.5(GNPTG):c.234-3C>T
NM_032520.5(GNPTG):c.242A>C (p.Tyr81Ser)
NM_032520.5(GNPTG):c.262_264del (p.Asn88del)
NM_032520.5(GNPTG):c.264C>A (p.Asn88Lys) rs145313679
NM_032520.5(GNPTG):c.265G>A (p.Val89Met)
NM_032520.5(GNPTG):c.276C>G (p.His92Gln) rs201992413
NM_032520.5(GNPTG):c.286T>C (p.Phe96Leu) rs1293958669
NM_032520.5(GNPTG):c.290G>A (p.Arg97His)
NM_032520.5(GNPTG):c.290G>C (p.Arg97Pro)
NM_032520.5(GNPTG):c.293G>A (p.Trp98Ter) rs1555451684
NM_032520.5(GNPTG):c.310A>G (p.Ile104Val)
NM_032520.5(GNPTG):c.310A>T (p.Ile104Phe) rs2034892317
NM_032520.5(GNPTG):c.317+4A>T
NM_032520.5(GNPTG):c.318-5C>A rs1038742616
NM_032520.5(GNPTG):c.318C>T (p.Gly106=) rs770716391
NM_032520.5(GNPTG):c.325C>T (p.His109Tyr)
NM_032520.5(GNPTG):c.327C>G (p.His109Gln) rs141533972
NM_032520.5(GNPTG):c.331T>C (p.Trp111Arg) rs774017237
NM_032520.5(GNPTG):c.340G>A (p.Ala114Thr)
NM_032520.5(GNPTG):c.343A>C (p.Asn115His)
NM_032520.5(GNPTG):c.344A>C (p.Asn115Thr) rs138297609
NM_032520.5(GNPTG):c.347A>C (p.Asn116Thr)
NM_032520.5(GNPTG):c.350C>T (p.Thr117Ile)
NM_032520.5(GNPTG):c.362T>C (p.Met121Thr)
NM_032520.5(GNPTG):c.362T>G (p.Met121Arg)
NM_032520.5(GNPTG):c.371G>T (p.Arg124Met) rs1455293503
NM_032520.5(GNPTG):c.375C>A (p.Asp125Glu)
NM_032520.5(GNPTG):c.382G>A (p.Ala128Thr)
NM_032520.5(GNPTG):c.389G>A (p.Arg130His)
NM_032520.5(GNPTG):c.400C>T (p.Arg134Trp)
NM_032520.5(GNPTG):c.401G>A (p.Arg134Gln)
NM_032520.5(GNPTG):c.421G>A (p.Ala141Thr) rs2034904624
NM_032520.5(GNPTG):c.422C>T (p.Ala141Val)
NM_032520.5(GNPTG):c.457G>A (p.Glu153Lys)
NM_032520.5(GNPTG):c.464G>A (p.Ser155Asn) rs113388753
NM_032520.5(GNPTG):c.479C>A (p.Ala160Glu) rs374470431
NM_032520.5(GNPTG):c.485C>T (p.Thr162Met)
NM_032520.5(GNPTG):c.494C>G (p.Thr165Ser) rs113167728
NM_032520.5(GNPTG):c.511C>T (p.Pro171Ser)
NM_032520.5(GNPTG):c.514C>T (p.His172Tyr)
NM_032520.5(GNPTG):c.517G>A (p.Ala173Thr)
NM_032520.5(GNPTG):c.527-7T>G
NM_032520.5(GNPTG):c.551_556del (p.Leu184_Gln185del) rs1555451962
NM_032520.5(GNPTG):c.556C>T (p.Arg186Trp) rs751880564
NM_032520.5(GNPTG):c.568C>A (p.Gln190Lys)
NM_032520.5(GNPTG):c.572T>G (p.Val191Gly) rs1596615031
NM_032520.5(GNPTG):c.574G>A (p.Glu192Lys)
NM_032520.5(GNPTG):c.591T>A (p.Asp197Glu)
NM_032520.5(GNPTG):c.605C>T (p.Pro202Leu) rs750752675
NM_032520.5(GNPTG):c.609+6C>T
NM_032520.5(GNPTG):c.609G>A (p.Gln203=)
NM_032520.5(GNPTG):c.610-11_628dup
NM_032520.5(GNPTG):c.610-3_626dup
NM_032520.5(GNPTG):c.613C>T (p.His205Tyr)
NM_032520.5(GNPTG):c.614A>G (p.His205Arg) rs1847388677
NM_032520.5(GNPTG):c.615T>A (p.His205Gln) rs2034924651
NM_032520.5(GNPTG):c.637T>C (p.Phe213Leu)
NM_032520.5(GNPTG):c.647C>T (p.Ala216Val)
NM_032520.5(GNPTG):c.659_664dup (p.Thr221_Pro222insGlnThr)
NM_032520.5(GNPTG):c.659_666dup (p.Glu223fs) rs2141864076
NM_032520.5(GNPTG):c.664C>G (p.Pro222Ala) rs1182234446
NM_032520.5(GNPTG):c.698G>T (p.Gly233Val) rs2034928063
NM_032520.5(GNPTG):c.700C>A (p.Pro234Thr)
NM_032520.5(GNPTG):c.700C>T (p.Pro234Ser) rs775816256
NM_032520.5(GNPTG):c.701C>G (p.Pro234Arg)
NM_032520.5(GNPTG):c.707G>T (p.Ser236Ile) rs1201859457
NM_032520.5(GNPTG):c.712G>A (p.Gly238Arg)
NM_032520.5(GNPTG):c.712G>T (p.Gly238Trp)
NM_032520.5(GNPTG):c.715T>C (p.Phe239Leu) rs2141864288
NM_032520.5(GNPTG):c.718G>A (p.Glu240Lys)
NM_032520.5(GNPTG):c.730A>C (p.Asn244His)
NM_032520.5(GNPTG):c.742G>T (p.Ala248Ser) rs773331398
NM_032520.5(GNPTG):c.745C>T (p.His249Tyr)
NM_032520.5(GNPTG):c.748_754dup (p.Leu252fs)
NM_032520.5(GNPTG):c.750dup (p.Glu251fs) rs758242017
NM_032520.5(GNPTG):c.752_762dup (p.Glu255fs)
NM_032520.5(GNPTG):c.772del (p.Arg258fs) rs2034941684
NM_032520.5(GNPTG):c.773G>A (p.Arg258Lys) rs751017354
NM_032520.5(GNPTG):c.780dup (p.Gly261fs)
NM_032520.5(GNPTG):c.782G>C (p.Gly261Ala)
NM_032520.5(GNPTG):c.792_823+13dup rs1567185504
NM_032520.5(GNPTG):c.798C>G (p.His266Gln) rs375787769
NM_032520.5(GNPTG):c.799G>T (p.Gly267Cys)
NM_032520.5(GNPTG):c.802A>C (p.Ile268Leu) rs759796840
NM_032520.5(GNPTG):c.806C>A (p.Pro269His) rs1596616485
NM_032520.5(GNPTG):c.806_821dup (p.Glu275fs) rs2034945789
NM_032520.5(GNPTG):c.807dup (p.Tyr270fs)
NM_032520.5(GNPTG):c.812C>G (p.Thr271Arg)
NM_032520.5(GNPTG):c.818C>T (p.Pro273Leu) rs2065188431
NM_032520.5(GNPTG):c.820A>C (p.Thr274Pro) rs2141865648
NM_032520.5(GNPTG):c.827C>T (p.Thr276Ile) rs540914235
NM_032520.5(GNPTG):c.834C>G (p.Asn278Lys)
NM_032520.5(GNPTG):c.852C>G (p.His284Gln)
NM_032520.5(GNPTG):c.853G>A (p.Glu285Lys) rs772723751
NM_032520.5(GNPTG):c.853G>C (p.Glu285Gln)
NM_032520.5(GNPTG):c.866C>T (p.Ala289Val)
NM_032520.5(GNPTG):c.869del (p.Lys290fs) rs2141866631
NM_032520.5(GNPTG):c.873_878dup (p.Pro292_Glu293insAspPro) rs775705721
NM_032520.5(GNPTG):c.874C>T (p.Pro292Ser) rs768090398
NM_032520.5(GNPTG):c.877G>A (p.Glu293Lys) rs2034963316
NM_032520.5(GNPTG):c.878A>C (p.Glu293Ala)
NM_032520.5(GNPTG):c.880C>T (p.Gln294Ter) rs780260521
NM_032520.5(GNPTG):c.881A>G (p.Gln294Arg)
NM_032520.5(GNPTG):c.899G>A (p.Gly300Glu) rs2141866899
NM_032520.5(GNPTG):c.905G>A (p.Arg302His)
NM_032520.5(GNPTG):c.916_*7del (p.Ter306ValextTer?) rs2034966245

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