ClinVar Miner

List of variants in gene PTPN23 reported by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 173
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HGVS dbSNP gnomAD frequency
NM_015466.4(PTPN23):c.257C>T (p.Ser86Leu) rs149197378 0.00127
NM_015466.4(PTPN23):c.4179-5C>T rs112931729 0.00110
NM_015466.4(PTPN23):c.2375C>T (p.Pro792Leu) rs374555949 0.00070
NM_015466.4(PTPN23):c.2575G>C (p.Gly859Arg) rs144025762 0.00061
NM_015466.4(PTPN23):c.3051G>C (p.Gln1017His) rs201017613 0.00051
NM_015466.4(PTPN23):c.4155C>G (p.His1385Gln) rs145347025 0.00041
NM_015466.4(PTPN23):c.4360G>A (p.Glu1454Lys) rs199529980 0.00038
NM_015466.4(PTPN23):c.4589C>T (p.Pro1530Leu) rs200553671 0.00023
NM_015466.4(PTPN23):c.2074C>T (p.Arg692Cys) rs531510250 0.00015
NM_015466.4(PTPN23):c.896G>A (p.Arg299His) rs201653035 0.00015
NM_015466.4(PTPN23):c.2780G>A (p.Gly927Glu) rs148096792 0.00013
NM_015466.4(PTPN23):c.2545G>A (p.Val849Met) rs199522138 0.00011
NM_015466.4(PTPN23):c.3748G>A (p.Glu1250Lys) rs148689441 0.00011
NM_015466.4(PTPN23):c.3967G>A (p.Val1323Ile) rs778612238 0.00010
NM_015466.4(PTPN23):c.424G>T (p.Val142Phe) rs147034860 0.00010
NM_015466.4(PTPN23):c.3287C>T (p.Pro1096Leu) rs772081974 0.00009
NM_015466.4(PTPN23):c.3340G>A (p.Ala1114Thr) rs768537319 0.00009
NM_015466.4(PTPN23):c.3515G>A (p.Arg1172Gln) rs139178679 0.00009
NM_015466.4(PTPN23):c.3901C>T (p.Arg1301Cys) rs142823648 0.00009
NM_015466.4(PTPN23):c.4106G>A (p.Arg1369His) rs201950738 0.00009
NM_015466.4(PTPN23):c.4162A>G (p.Ile1388Val) rs149160247 0.00009
NM_015466.4(PTPN23):c.695G>A (p.Arg232Gln) rs577689618 0.00009
NM_015466.4(PTPN23):c.4580C>T (p.Pro1527Leu) rs566762838 0.00008
NM_015466.4(PTPN23):c.2759C>T (p.Thr920Met) rs768815735 0.00007
NM_015466.4(PTPN23):c.4033C>T (p.Arg1345Cys) rs142129608 0.00007
NM_015466.4(PTPN23):c.1084C>T (p.Pro362Ser) rs755924831 0.00006
NM_015466.4(PTPN23):c.2143A>C (p.Lys715Gln) rs557838138 0.00006
NM_015466.4(PTPN23):c.2416A>G (p.Arg806Gly) rs149495987 0.00006
NM_015466.4(PTPN23):c.2443G>A (p.Val815Ile) rs781750526 0.00006
NM_015466.4(PTPN23):c.3745G>A (p.Val1249Met) rs371405630 0.00006
NM_015466.4(PTPN23):c.2144A>C (p.Lys715Thr) rs763745936 0.00005
NM_015466.4(PTPN23):c.3299G>A (p.Arg1100His) rs763130796 0.00005
NM_015466.4(PTPN23):c.2633G>A (p.Arg878Gln) rs754520731 0.00004
NM_015466.4(PTPN23):c.2642C>G (p.Thr881Ser) rs372632606 0.00004
NM_015466.4(PTPN23):c.2852T>C (p.Ile951Thr) rs778699456 0.00004
NM_015466.4(PTPN23):c.914T>C (p.Ile305Thr) rs756429234 0.00004
NM_015466.4(PTPN23):c.2078C>T (p.Thr693Met) rs761812727 0.00003
NM_015466.4(PTPN23):c.2236C>T (p.Arg746Cys) rs934068242 0.00003
NM_015466.4(PTPN23):c.2608G>A (p.Gly870Ser) rs754323070 0.00003
NM_015466.4(PTPN23):c.3223G>C (p.Ala1075Pro) rs781559568 0.00003
NM_015466.4(PTPN23):c.3310G>A (p.Ala1104Thr) rs755489344 0.00003
NM_015466.4(PTPN23):c.3664C>T (p.Arg1222Trp) rs759072500 0.00003
NM_015466.4(PTPN23):c.4105C>T (p.Arg1369Cys) rs992872002 0.00003
NM_015466.4(PTPN23):c.4901A>G (p.Asn1634Ser) rs781734247 0.00003
NM_015466.4(PTPN23):c.1408G>C (p.Glu470Gln) rs140038494 0.00002
NM_015466.4(PTPN23):c.1807G>A (p.Glu603Lys) rs141113890 0.00002
NM_015466.4(PTPN23):c.1936G>A (p.Asp646Asn) rs76083258 0.00002
NM_015466.4(PTPN23):c.3067G>A (p.Ala1023Thr) rs200908078 0.00002
NM_015466.4(PTPN23):c.3626G>A (p.Arg1209His) rs527749239 0.00002
NM_015466.4(PTPN23):c.3979G>A (p.Glu1327Lys) rs759389182 0.00002
NM_015466.4(PTPN23):c.4159C>G (p.Pro1387Ala) rs761044983 0.00002
NM_015466.4(PTPN23):c.4783C>T (p.Arg1595Trp) rs766217046 0.00002
NM_015466.4(PTPN23):c.4853G>A (p.Arg1618Gln) rs368990224 0.00002
NM_015466.4(PTPN23):c.832G>A (p.Asp278Asn) rs375689982 0.00002
NM_015466.4(PTPN23):c.946A>G (p.Asn316Asp) rs780048193 0.00002
NM_015466.4(PTPN23):c.1119-4G>A rs776817265 0.00001
NM_015466.4(PTPN23):c.1303G>A (p.Val435Ile) rs753965402 0.00001
NM_015466.4(PTPN23):c.1609C>T (p.Arg537Trp) rs746807105 0.00001
NM_015466.4(PTPN23):c.1625C>T (p.Thr542Ile) rs1249454574 0.00001
NM_015466.4(PTPN23):c.2444T>C (p.Val815Ala) rs748624301 0.00001
NM_015466.4(PTPN23):c.2867A>G (p.Gln956Arg) rs768866808 0.00001
NM_015466.4(PTPN23):c.3103C>T (p.Pro1035Ser) rs146697069 0.00001
NM_015466.4(PTPN23):c.3514C>T (p.Arg1172Trp) rs772953426 0.00001
NM_015466.4(PTPN23):c.3971G>A (p.Arg1324His) rs770834691 0.00001
NM_015466.4(PTPN23):c.4016G>A (p.Arg1339Gln) rs1014265248 0.00001
NM_015466.4(PTPN23):c.4097A>T (p.Asn1366Ile) rs369616852 0.00001
NM_015466.4(PTPN23):c.4489T>C (p.Ser1497Pro) rs1705352930 0.00001
NM_015466.4(PTPN23):c.4852C>T (p.Arg1618Trp) rs767302372 0.00001
NM_015466.4(PTPN23):c.895C>T (p.Arg299Cys) rs752087813 0.00001
NM_015466.4(PTPN23):c.901A>T (p.Thr301Ser) rs1036806809 0.00001
NM_015466.4(PTPN23):c.1004-4C>A rs200658102
NM_015466.4(PTPN23):c.1279G>C (p.Ala427Pro)
NM_015466.4(PTPN23):c.1297G>T (p.Asp433Tyr)
NM_015466.4(PTPN23):c.1337C>T (p.Ser446Leu)
NM_015466.4(PTPN23):c.1417T>C (p.Phe473Leu)
NM_015466.4(PTPN23):c.1424A>T (p.Glu475Val)
NM_015466.4(PTPN23):c.1504A>C (p.Met502Leu)
NM_015466.4(PTPN23):c.1517A>G (p.Glu506Gly)
NM_015466.4(PTPN23):c.1518G>T (p.Glu506Asp)
NM_015466.4(PTPN23):c.1526C>T (p.Ser509Phe)
NM_015466.4(PTPN23):c.1580G>A (p.Arg527His)
NM_015466.4(PTPN23):c.158A>G (p.Gln53Arg)
NM_015466.4(PTPN23):c.1591G>A (p.Gly531Arg)
NM_015466.4(PTPN23):c.1598T>C (p.Leu533Pro)
NM_015466.4(PTPN23):c.1601A>C (p.Asp534Ala)
NM_015466.4(PTPN23):c.1642+5G>A
NM_015466.4(PTPN23):c.1654G>A (p.Val552Met)
NM_015466.4(PTPN23):c.1669A>G (p.Lys557Glu)
NM_015466.4(PTPN23):c.166G>C (p.Val56Leu)
NM_015466.4(PTPN23):c.1672C>T (p.Arg558Cys)
NM_015466.4(PTPN23):c.1696A>G (p.Met566Val)
NM_015466.4(PTPN23):c.1864G>T (p.Ala622Ser)
NM_015466.4(PTPN23):c.1886C>G (p.Ala629Gly) rs780485797
NM_015466.4(PTPN23):c.1906C>G (p.Gln636Glu)
NM_015466.4(PTPN23):c.2015C>T (p.Ser672Leu)
NM_015466.4(PTPN23):c.2167C>G (p.Pro723Ala) rs200116483
NM_015466.4(PTPN23):c.2174C>T (p.Pro725Leu)
NM_015466.4(PTPN23):c.2189G>A (p.Arg730Lys) rs371402807
NM_015466.4(PTPN23):c.2189G>C (p.Arg730Thr)
NM_015466.4(PTPN23):c.2204C>A (p.Ala735Glu)
NM_015466.4(PTPN23):c.2237G>A (p.Arg746His)
NM_015466.4(PTPN23):c.2254A>G (p.Met752Val)
NM_015466.4(PTPN23):c.2270G>A (p.Arg757Gln)
NM_015466.4(PTPN23):c.2330C>T (p.Pro777Leu)
NM_015466.4(PTPN23):c.2355C>A (p.His785Gln)
NM_015466.4(PTPN23):c.2359C>A (p.Leu787Ile) rs765845422
NM_015466.4(PTPN23):c.2384C>G (p.Thr795Ser)
NM_015466.4(PTPN23):c.2390C>T (p.Ser797Leu)
NM_015466.4(PTPN23):c.2527G>A (p.Val843Met)
NM_015466.4(PTPN23):c.2666C>T (p.Ala889Val)
NM_015466.4(PTPN23):c.2673C>G (p.Ile891Met) rs760796648
NM_015466.4(PTPN23):c.2692C>G (p.Arg898Gly) rs140769194
NM_015466.4(PTPN23):c.2693G>A (p.Arg898Gln)
NM_015466.4(PTPN23):c.2701C>A (p.Pro901Thr) rs750754516
NM_015466.4(PTPN23):c.2701C>T (p.Pro901Ser)
NM_015466.4(PTPN23):c.2707C>T (p.Pro903Ser)
NM_015466.4(PTPN23):c.2711C>T (p.Ala904Val)
NM_015466.4(PTPN23):c.2720C>G (p.Pro907Arg)
NM_015466.4(PTPN23):c.2744C>T (p.Pro915Leu)
NM_015466.4(PTPN23):c.2808C>A (p.His936Gln)
NM_015466.4(PTPN23):c.2849G>A (p.Arg950Lys)
NM_015466.4(PTPN23):c.2856GCCCCA[2] (p.954QP[1]) rs552397269
NM_015466.4(PTPN23):c.2856GCCCCA[4] (p.954QP[3]) rs552397269
NM_015466.4(PTPN23):c.2857C>T (p.Pro953Ser)
NM_015466.4(PTPN23):c.2866CAGCCCCATCCT[3] (p.Pro963_Ser964insGlnProHisPro)
NM_015466.4(PTPN23):c.2933_2944dup (p.Pro981_His982insLeuGlnHisPro)
NM_015466.4(PTPN23):c.2937G>C (p.Gln979His)
NM_015466.4(PTPN23):c.2944C>T (p.His982Tyr)
NM_015466.4(PTPN23):c.2969G>A (p.Gly990Glu)
NM_015466.4(PTPN23):c.3077C>G (p.Pro1026Arg)
NM_015466.4(PTPN23):c.3086C>T (p.Ala1029Val)
NM_015466.4(PTPN23):c.3115C>G (p.Pro1039Ala)
NM_015466.4(PTPN23):c.3157C>A (p.Pro1053Thr)
NM_015466.4(PTPN23):c.3175C>T (p.Pro1059Ser)
NM_015466.4(PTPN23):c.3272C>T (p.Ser1091Phe)
NM_015466.4(PTPN23):c.328A>G (p.Ile110Val)
NM_015466.4(PTPN23):c.3301C>T (p.Pro1101Ser)
NM_015466.4(PTPN23):c.3317C>T (p.Pro1106Leu)
NM_015466.4(PTPN23):c.3325T>C (p.Cys1109Arg)
NM_015466.4(PTPN23):c.3362C>T (p.Ser1121Phe)
NM_015466.4(PTPN23):c.3395A>G (p.Gln1132Arg) rs756868289
NM_015466.4(PTPN23):c.341A>T (p.Gln114Leu)
NM_015466.4(PTPN23):c.3452G>T (p.Gly1151Val)
NM_015466.4(PTPN23):c.3499C>T (p.His1167Tyr)
NM_015466.4(PTPN23):c.3559G>A (p.Asp1187Asn)
NM_015466.4(PTPN23):c.3706C>G (p.Leu1236Val)
NM_015466.4(PTPN23):c.3773C>T (p.Pro1258Leu) rs146178681
NM_015466.4(PTPN23):c.3799C>G (p.Pro1267Ala)
NM_015466.4(PTPN23):c.3926A>G (p.Gln1309Arg)
NM_015466.4(PTPN23):c.392T>C (p.Met131Thr)
NM_015466.4(PTPN23):c.3970C>T (p.Arg1324Cys)
NM_015466.4(PTPN23):c.3992A>T (p.Glu1331Val)
NM_015466.4(PTPN23):c.400C>T (p.Arg134Trp)
NM_015466.4(PTPN23):c.4034G>A (p.Arg1345His)
NM_015466.4(PTPN23):c.4043T>C (p.Val1348Ala)
NM_015466.4(PTPN23):c.4166T>C (p.Ile1389Thr)
NM_015466.4(PTPN23):c.4271T>C (p.Leu1424Pro)
NM_015466.4(PTPN23):c.4280G>A (p.Arg1427His)
NM_015466.4(PTPN23):c.4292A>G (p.Gln1431Arg)
NM_015466.4(PTPN23):c.4315_4317del (p.Lys1439del)
NM_015466.4(PTPN23):c.4357G>A (p.Val1453Met)
NM_015466.4(PTPN23):c.4373A>G (p.Gln1458Arg)
NM_015466.4(PTPN23):c.4432-5_4432-3del
NM_015466.4(PTPN23):c.4456G>C (p.Asp1486His)
NM_015466.4(PTPN23):c.4538T>G (p.Leu1513Trp)
NM_015466.4(PTPN23):c.4634_4635insA (p.Pro1546fs)
NM_015466.4(PTPN23):c.4640C>G (p.Pro1547Arg) rs145767987
NM_015466.4(PTPN23):c.4709C>T (p.Ser1570Leu) rs145450943
NM_015466.4(PTPN23):c.4715C>A (p.Pro1572His)
NM_015466.4(PTPN23):c.502G>A (p.Asp168Asn)
NM_015466.4(PTPN23):c.541A>C (p.Met181Leu)
NM_015466.4(PTPN23):c.613C>T (p.Arg205Cys)
NM_015466.4(PTPN23):c.889G>A (p.Ala297Thr)

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