ClinVar Miner

List of variants in gene BPTF studied for Inborn genetic diseases

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Total variants: 207
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HGVS dbSNP gnomAD frequency
NM_182641.4(BPTF):c.287G>C (p.Gly96Ala) rs1055192173 0.00110
NM_182641.4(BPTF):c.8014C>G (p.Pro2672Ala) rs142300680 0.00051
NM_182641.4(BPTF):c.7873G>A (p.Glu2625Lys) rs112224314 0.00034
NM_182641.4(BPTF):c.3298A>G (p.Lys1100Glu) rs149482106 0.00032
NM_182641.4(BPTF):c.6103A>G (p.Ile2035Val) rs140942173 0.00029
NM_182641.4(BPTF):c.3478C>T (p.Leu1160Phe) rs139387934 0.00027
NM_182641.4(BPTF):c.6229A>G (p.Ile2077Val) rs369595757 0.00026
NM_182641.4(BPTF):c.6712C>A (p.Gln2238Lys) rs148759485 0.00025
NM_182641.4(BPTF):c.8053C>T (p.Pro2685Ser) rs782449768 0.00025
NM_182641.4(BPTF):c.7111A>G (p.Thr2371Ala) rs149704276 0.00018
NM_182641.4(BPTF):c.4153A>G (p.Thr1385Ala) rs146241932 0.00017
NM_182641.4(BPTF):c.2126A>G (p.Asn709Ser) rs772374423 0.00014
NM_182641.4(BPTF):c.4769C>T (p.Thr1590Met) rs569891539 0.00014
NM_182641.4(BPTF):c.5884A>G (p.Thr1962Ala) rs145870742 0.00014
NM_182641.4(BPTF):c.3202A>G (p.Ile1068Val) rs201207814 0.00013
NM_182641.4(BPTF):c.6001G>A (p.Val2001Ile) rs201775041 0.00011
NM_182641.4(BPTF):c.7321C>G (p.Gln2441Glu) rs782167494 0.00010
NM_182641.4(BPTF):c.1193A>G (p.Lys398Arg) rs369457219 0.00009
NM_182641.4(BPTF):c.3313T>G (p.Ser1105Ala) rs200497111 0.00009
NM_182641.4(BPTF):c.8102C>T (p.Thr2701Met) rs147034943 0.00009
NM_182641.4(BPTF):c.4927A>C (p.Ser1643Arg) rs538862924 0.00008
NM_182641.4(BPTF):c.6679A>G (p.Thr2227Ala) rs782759187 0.00008
NM_182641.4(BPTF):c.6896T>C (p.Val2299Ala) rs146431435 0.00008
NM_182641.4(BPTF):c.1657A>G (p.Asn553Asp) rs149637646 0.00007
NM_182641.4(BPTF):c.3817A>G (p.Met1273Val) rs200808758 0.00007
NM_182641.4(BPTF):c.6359G>A (p.Ser2120Asn) rs200180767 0.00007
NM_182641.4(BPTF):c.262A>G (p.Ser88Gly) rs1348330762 0.00006
NM_182641.4(BPTF):c.2135A>G (p.Asn712Ser) rs746640626 0.00005
NM_182641.4(BPTF):c.3721G>A (p.Glu1241Lys) rs201523219 0.00005
NM_182641.4(BPTF):c.3814G>A (p.Ala1272Thr) rs199996143 0.00005
NM_182641.4(BPTF):c.5774C>T (p.Pro1925Leu) rs751239459 0.00005
NM_182641.4(BPTF):c.6035T>C (p.Ile2012Thr) rs187498805 0.00005
NM_182641.4(BPTF):c.6133A>C (p.Thr2045Pro) rs375972695 0.00005
NM_182641.4(BPTF):c.6360C>G (p.Ser2120Arg) rs375577789 0.00005
NM_182641.4(BPTF):c.1074G>C (p.Glu358Asp) rs991755344 0.00004
NM_182641.4(BPTF):c.4600A>G (p.Met1534Val) rs778235841 0.00004
NM_182641.4(BPTF):c.5213G>A (p.Arg1738Gln) rs1264742600 0.00004
NM_182641.4(BPTF):c.5783T>C (p.Ile1928Thr) rs145536461 0.00004
NM_182641.4(BPTF):c.7352A>G (p.Gln2451Arg) rs781804052 0.00004
NM_182641.4(BPTF):c.1575A>C (p.Glu525Asp) rs747242554 0.00003
NM_182641.4(BPTF):c.1850A>G (p.Gln617Arg) rs777162730 0.00003
NM_182641.4(BPTF):c.2506A>T (p.Met836Leu) rs143731190 0.00003
NM_182641.4(BPTF):c.3481T>C (p.Tyr1161His) rs747101853 0.00003
NM_182641.4(BPTF):c.3487A>G (p.Lys1163Glu) rs1017273676 0.00003
NM_182641.4(BPTF):c.4864A>G (p.Lys1622Glu) rs780473362 0.00003
NM_182641.4(BPTF):c.5776A>T (p.Thr1926Ser) rs762655170 0.00003
NM_182641.4(BPTF):c.7099G>C (p.Val2367Leu) rs782370547 0.00003
NM_182641.4(BPTF):c.7135C>T (p.Pro2379Ser) rs372837861 0.00003
NM_182641.4(BPTF):c.4249T>C (p.Tyr1417His) rs368920109 0.00002
NM_182641.4(BPTF):c.4454C>T (p.Ser1485Leu) rs776598623 0.00002
NM_182641.4(BPTF):c.5756G>A (p.Arg1919Gln) rs1211259945 0.00002
NM_182641.4(BPTF):c.7376A>C (p.Gln2459Pro) rs782434498 0.00002
NM_182641.4(BPTF):c.1454A>G (p.Asn485Ser) rs2059397843 0.00001
NM_182641.4(BPTF):c.1847A>C (p.Glu616Ala) rs143373843 0.00001
NM_182641.4(BPTF):c.2911G>A (p.Glu971Lys) rs750576908 0.00001
NM_182641.4(BPTF):c.3166A>G (p.Lys1056Glu) rs770227764 0.00001
NM_182641.4(BPTF):c.334G>T (p.Ala112Ser) rs768723066 0.00001
NM_182641.4(BPTF):c.3356C>T (p.Ser1119Leu) rs946963236 0.00001
NM_182641.4(BPTF):c.3512C>T (p.Ser1171Phe) rs557321929 0.00001
NM_182641.4(BPTF):c.3518G>A (p.Arg1173Gln) rs375696457 0.00001
NM_182641.4(BPTF):c.3724A>G (p.Ser1242Gly) rs1419799395 0.00001
NM_182641.4(BPTF):c.4178G>A (p.Arg1393Gln) rs954187761 0.00001
NM_182641.4(BPTF):c.4352A>G (p.Asp1451Gly) rs2062703847 0.00001
NM_182641.4(BPTF):c.4354A>G (p.Ile1452Val) rs369279593 0.00001
NM_182641.4(BPTF):c.4481A>G (p.Glu1494Gly) rs201618328 0.00001
NM_182641.4(BPTF):c.4582G>C (p.Val1528Leu) rs972750366 0.00001
NM_182641.4(BPTF):c.4748C>A (p.Thr1583Asn) rs750626624 0.00001
NM_182641.4(BPTF):c.4936A>G (p.Ile1646Val) rs1478510841 0.00001
NM_182641.4(BPTF):c.5008G>A (p.Gly1670Ser) rs778954297 0.00001
NM_182641.4(BPTF):c.5293A>G (p.Ile1765Val) rs374472902 0.00001
NM_182641.4(BPTF):c.5396A>G (p.Lys1799Arg) rs1464281868 0.00001
NM_182641.4(BPTF):c.5813G>A (p.Ser1938Asn) rs1399521599 0.00001
NM_182641.4(BPTF):c.5878A>G (p.Thr1960Ala) rs749160366 0.00001
NM_182641.4(BPTF):c.5974G>A (p.Val1992Ile) rs765631305 0.00001
NM_182641.4(BPTF):c.6173G>A (p.Arg2058His) rs552529693 0.00001
NM_182641.4(BPTF):c.6187G>A (p.Val2063Met) rs754782595 0.00001
NM_182641.4(BPTF):c.6284A>G (p.Gln2095Arg) rs199648024 0.00001
NM_182641.4(BPTF):c.6355A>G (p.Lys2119Glu) rs782221399 0.00001
NM_182641.4(BPTF):c.6445A>G (p.Met2149Val) rs1555671544 0.00001
NM_182641.4(BPTF):c.644G>A (p.Arg215His) rs754887842 0.00001
NM_182641.4(BPTF):c.6697G>T (p.Ala2233Ser) rs782782569 0.00001
NM_182641.4(BPTF):c.6871C>T (p.Pro2291Ser) rs2512527595 0.00001
NM_182641.4(BPTF):c.7121C>T (p.Pro2374Leu) rs782731546 0.00001
NM_182641.4(BPTF):c.7333C>T (p.Leu2445Phe) rs782755996 0.00001
NM_182641.4(BPTF):c.7942G>C (p.Asp2648His) rs1438357570 0.00001
NM_182641.4(BPTF):c.8038C>G (p.Pro2680Ala) rs781837183 0.00001
NM_182641.4(BPTF):c.8185A>T (p.Ile2729Phe) rs782594901 0.00001
NM_182641.4(BPTF):c.8195C>T (p.Thr2732Ile) rs782275926 0.00001
NM_182641.4(BPTF):c.1070T>C (p.Val357Ala)
NM_182641.4(BPTF):c.1313A>G (p.Lys438Arg)
NM_182641.4(BPTF):c.1314G>C (p.Lys438Asn)
NM_182641.4(BPTF):c.1441G>C (p.Glu481Gln) rs990676304
NM_182641.4(BPTF):c.1447dup (p.Thr483fs) rs2059397603
NM_182641.4(BPTF):c.145G>A (p.Gly49Ser) rs1055623449
NM_182641.4(BPTF):c.146G>C (p.Gly49Ala) rs1240214159
NM_182641.4(BPTF):c.1513G>T (p.Asp505Tyr)
NM_182641.4(BPTF):c.1597A>T (p.Ile533Leu)
NM_182641.4(BPTF):c.1631G>C (p.Ser544Thr)
NM_182641.4(BPTF):c.1637A>G (p.Lys546Arg) rs765770406
NM_182641.4(BPTF):c.1649C>A (p.Ala550Glu) rs138297396
NM_182641.4(BPTF):c.1714A>C (p.Ser572Arg)
NM_182641.4(BPTF):c.1847A>G (p.Glu616Gly) rs143373843
NM_182641.4(BPTF):c.1901T>C (p.Leu634Pro) rs2510940818
NM_182641.4(BPTF):c.2014G>A (p.Ala672Thr)
NM_182641.4(BPTF):c.203G>C (p.Arg68Thr) rs2055953026
NM_182641.4(BPTF):c.204G>C (p.Arg68Ser)
NM_182641.4(BPTF):c.204G>T (p.Arg68Ser)
NM_182641.4(BPTF):c.205G>C (p.Gly69Arg) rs1011342595
NM_182641.4(BPTF):c.2060_2061delinsACCA (p.Leu687fs)
NM_182641.4(BPTF):c.206G>C (p.Gly69Ala) rs1244643578
NM_182641.4(BPTF):c.208G>T (p.Gly70Cys) rs189405336
NM_182641.4(BPTF):c.209dup (p.Ser71fs) rs1259365489
NM_182641.4(BPTF):c.2299G>A (p.Gly767Ser)
NM_182641.4(BPTF):c.229CCG[7] (p.Pro82_Ala83insPro) rs955533308
NM_182641.4(BPTF):c.2346_2349del (p.Thr783fs) rs2061265539
NM_182641.4(BPTF):c.2366del (p.Asn789fs) rs1555639076
NM_182641.4(BPTF):c.247_248insGCCCCCCCCCCCCCC (p.Ala83delinsGlyProProProProPro) rs2509383653
NM_182641.4(BPTF):c.251C>T (p.Pro84Leu) rs2055966309
NM_182641.4(BPTF):c.255del (p.Ser86fs) rs1598050118
NM_182641.4(BPTF):c.2598dup (p.Glu867fs) rs753044214
NM_182641.4(BPTF):c.266C>T (p.Ala89Val)
NM_182641.4(BPTF):c.2764A>G (p.Lys922Glu)
NM_182641.4(BPTF):c.278G>C (p.Gly93Ala) rs1423973767
NM_182641.4(BPTF):c.2821A>C (p.Asn941His) rs775094744
NM_182641.4(BPTF):c.2822A>G (p.Asn941Ser)
NM_182641.4(BPTF):c.296G>A (p.Gly99Asp)
NM_182641.4(BPTF):c.298G>T (p.Gly100Cys)
NM_182641.4(BPTF):c.300_314del (p.Arg101_Gly105del) rs2055976823
NM_182641.4(BPTF):c.304A>G (p.Thr102Ala)
NM_182641.4(BPTF):c.305C>T (p.Thr102Met)
NM_182641.4(BPTF):c.3158A>G (p.Lys1053Arg) rs1598598778
NM_182641.4(BPTF):c.3179T>C (p.Leu1060Pro)
NM_182641.4(BPTF):c.3256G>A (p.Gly1086Ser)
NM_182641.4(BPTF):c.3310G>A (p.Glu1104Lys)
NM_182641.4(BPTF):c.3361A>G (p.Arg1121Gly) rs2511457000
NM_182641.4(BPTF):c.3464A>G (p.His1155Arg)
NM_182641.4(BPTF):c.3493C>G (p.Arg1165Gly) rs145463211
NM_182641.4(BPTF):c.350C>T (p.Ala117Val)
NM_182641.4(BPTF):c.3581C>G (p.Ser1194Cys)
NM_182641.4(BPTF):c.3590C>T (p.Ala1197Val)
NM_182641.4(BPTF):c.3646G>A (p.Asp1216Asn) rs760275783
NM_182641.4(BPTF):c.3707C>T (p.Pro1236Leu) rs374907644
NM_182641.4(BPTF):c.3755C>T (p.Ala1252Val) rs2080059293
NM_182641.4(BPTF):c.3917T>C (p.Met1306Thr) rs772736510
NM_182641.4(BPTF):c.3935A>G (p.Asn1312Ser)
NM_182641.4(BPTF):c.4016G>A (p.Gly1339Asp) rs140673996
NM_182641.4(BPTF):c.4045C>G (p.Leu1349Val)
NM_182641.4(BPTF):c.4151C>A (p.Thr1384Asn) rs149278101
NM_182641.4(BPTF):c.4154C>A (p.Thr1385Asn)
NM_182641.4(BPTF):c.4313C>T (p.Pro1438Leu) rs752708632
NM_182641.4(BPTF):c.4577A>G (p.Asn1526Ser)
NM_182641.4(BPTF):c.4645A>G (p.Ile1549Val)
NM_182641.4(BPTF):c.4703C>T (p.Pro1568Leu)
NM_182641.4(BPTF):c.4818A>T (p.Glu1606Asp)
NM_182641.4(BPTF):c.4825G>T (p.Asp1609Tyr)
NM_182641.4(BPTF):c.4867T>G (p.Ser1623Ala) rs147928104
NM_182641.4(BPTF):c.4887_4889del (p.Thr1631del) rs764167122
NM_182641.4(BPTF):c.4976C>T (p.Thr1659Met) rs202095865
NM_182641.4(BPTF):c.5017G>C (p.Val1673Leu)
NM_182641.4(BPTF):c.5096C>T (p.Thr1699Ile) rs2511512258
NM_182641.4(BPTF):c.5186A>G (p.Lys1729Arg) rs2062753023
NM_182641.4(BPTF):c.5404C>G (p.Pro1802Ala)
NM_182641.4(BPTF):c.5744A>T (p.Gln1915Leu) rs2511853110
NM_182641.4(BPTF):c.5752-3T>C rs1465463112
NM_182641.4(BPTF):c.5836G>A (p.Ala1946Thr) rs1175987252
NM_182641.4(BPTF):c.5900C>A (p.Thr1967Asn) rs1384605896
NM_182641.4(BPTF):c.6004G>A (p.Val2002Ile)
NM_182641.4(BPTF):c.6131G>A (p.Gly2044Glu)
NM_182641.4(BPTF):c.6172C>T (p.Arg2058Cys)
NM_182641.4(BPTF):c.629G>A (p.Arg210Lys)
NM_182641.4(BPTF):c.6416G>A (p.Arg2139His)
NM_182641.4(BPTF):c.649C>T (p.Pro217Ser)
NM_182641.4(BPTF):c.64C>A (p.Pro22Thr) rs2509367948
NM_182641.4(BPTF):c.652A>G (p.Ile218Val)
NM_182641.4(BPTF):c.6577G>C (p.Gly2193Arg)
NM_182641.4(BPTF):c.65C>T (p.Pro22Leu)
NM_182641.4(BPTF):c.6760A>G (p.Thr2254Ala)
NM_182641.4(BPTF):c.6889C>T (p.Pro2297Ser) rs2512529229
NM_182641.4(BPTF):c.6992C>T (p.Pro2331Leu) rs2512535204
NM_182641.4(BPTF):c.7018C>A (p.Pro2340Thr)
NM_182641.4(BPTF):c.7036C>T (p.Pro2346Ser)
NM_182641.4(BPTF):c.7037_7040dup (p.Gln2348fs) rs2512536891
NM_182641.4(BPTF):c.7126C>A (p.Pro2376Thr) rs145519434
NM_182641.4(BPTF):c.7126C>G (p.Pro2376Ala)
NM_182641.4(BPTF):c.7151A>C (p.Gln2384Pro)
NM_182641.4(BPTF):c.715C>T (p.Pro239Ser)
NM_182641.4(BPTF):c.7184C>T (p.Pro2395Leu)
NM_182641.4(BPTF):c.7298T>C (p.Ile2433Thr)
NM_182641.4(BPTF):c.7361C>G (p.Ala2454Gly)
NM_182641.4(BPTF):c.7487G>A (p.Ser2496Asn)
NM_182641.4(BPTF):c.74C>T (p.Pro25Leu)
NM_182641.4(BPTF):c.7519C>T (p.Leu2507Phe)
NM_182641.4(BPTF):c.7553A>G (p.Gln2518Arg) rs2512564760
NM_182641.4(BPTF):c.7645G>C (p.Glu2549Gln)
NM_182641.4(BPTF):c.7766C>T (p.Ala2589Val) rs2065952071
NM_182641.4(BPTF):c.7792A>T (p.Ser2598Cys)
NM_182641.4(BPTF):c.7921G>A (p.Val2641Met)
NM_182641.4(BPTF):c.7978T>A (p.Leu2660Met) rs2067273209
NM_182641.4(BPTF):c.8035GCCCCTCCA[5] (p.2676APP[6]) rs60308484
NM_182641.4(BPTF):c.8062C>G (p.Pro2688Ala)
NM_182641.4(BPTF):c.8455G>T (p.Ala2819Ser)
NM_182641.4(BPTF):c.8455_8456delinsTT (p.Ala2819Phe)
NM_182641.4(BPTF):c.8456C>T (p.Ala2819Val)
NM_182641.4(BPTF):c.8647A>C (p.Ser2883Arg)
NM_182641.4(BPTF):c.8711G>A (p.Gly2904Asp)
NM_182641.4(BPTF):c.8731C>G (p.His2911Asp)
NM_182641.4(BPTF):c.92C>T (p.Pro31Leu) rs2055938658

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