ClinVar Miner

List of variants in gene BPTF reported by GeneDx

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Gene type:
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Total variants: 165
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HGVS dbSNP gnomAD frequency
NM_182641.4(BPTF):c.7927-6T>C rs8068790 0.88251
NM_182641.4(BPTF):c.2271G>A (p.Leu757=) rs7214985 0.03029
NM_182641.4(BPTF):c.36C>G (p.Pro12=) rs868242186 0.02432
NM_182641.4(BPTF):c.5884A>G (p.Thr1962Ala) rs145870742 0.00014
NM_182641.4(BPTF):c.3905G>A (p.Ser1302Asn) rs144807262 0.00013
NM_182641.4(BPTF):c.1661A>T (p.Glu554Val) rs375245234 0.00004
NM_182641.4(BPTF):c.1354A>T (p.Asn452Tyr) rs2058589015 0.00001
NM_182641.4(BPTF):c.1865-5651C>G rs1052681108 0.00001
NM_182641.4(BPTF):c.3890C>G (p.Ser1297Cys) rs750217353 0.00001
NM_182641.4(BPTF):c.8591C>T (p.Thr2864Met) rs782391484 0.00001
NM_004459.7(BPTF):c.8043_8045dup (p.Leu2682_Ser2683insLeu) rs2148299684
NM_182641.4(BPTF):c.1027G>T (p.Val343Phe) rs200853934
NM_182641.4(BPTF):c.1090C>G (p.Leu364Val)
NM_182641.4(BPTF):c.1118C>T (p.Thr373Ile)
NM_182641.4(BPTF):c.1123A>C (p.Asn375His)
NM_182641.4(BPTF):c.1127T>C (p.Ile376Thr) rs2144998844
NM_182641.4(BPTF):c.1328C>G (p.Thr443Ser)
NM_182641.4(BPTF):c.1424G>A (p.Arg475Gln) rs2510102579
NM_182641.4(BPTF):c.1435A>T (p.Ile479Leu) rs563012201
NM_182641.4(BPTF):c.1451A>G (p.Glu484Gly) rs2510283982
NM_182641.4(BPTF):c.1463A>G (p.Glu488Gly) rs1218501705
NM_182641.4(BPTF):c.1473T>G (p.Ile491Met)
NM_182641.4(BPTF):c.1481A>G (p.Tyr494Cys) rs2145468668
NM_182641.4(BPTF):c.1618A>G (p.Lys540Glu) rs2510286645
NM_182641.4(BPTF):c.1625G>A (p.Arg542Gln) rs200596839
NM_182641.4(BPTF):c.1640C>G (p.Ser547Cys)
NM_182641.4(BPTF):c.1693G>A (p.Gly565Arg)
NM_182641.4(BPTF):c.1738A>C (p.Lys580Gln) rs868522803
NM_182641.4(BPTF):c.1780A>G (p.Arg594Gly)
NM_182641.4(BPTF):c.1861G>C (p.Glu621Gln)
NM_182641.4(BPTF):c.1864+562A>T rs2510604341
NM_182641.4(BPTF):c.1864+622C>G
NM_182641.4(BPTF):c.1864+710C>G
NM_182641.4(BPTF):c.1864+715G>T
NM_182641.4(BPTF):c.1865-5599C>A rs772890962
NM_182641.4(BPTF):c.1865-5617C>G
NM_182641.4(BPTF):c.1865-5632G>A
NM_182641.4(BPTF):c.200C>T (p.Pro67Leu) rs2509379480
NM_182641.4(BPTF):c.2180A>G (p.Asn727Ser) rs2061258356
NM_182641.4(BPTF):c.2245dup (p.Arg749fs) rs1598468564
NM_182641.4(BPTF):c.2266_2272delinsCGTCTGT (p.Cys756_Thr758delinsArgLeuSer) rs2510969388
NM_182641.4(BPTF):c.2346_2349del (p.Thr783fs) rs2061265539
NM_182641.4(BPTF):c.2357A>G (p.Gln786Arg)
NM_182641.4(BPTF):c.2392C>T (p.Pro798Ser)
NM_182641.4(BPTF):c.2398T>C (p.Trp800Arg)
NM_182641.4(BPTF):c.2416A>T (p.Asn806Tyr)
NM_182641.4(BPTF):c.242_243insCCCGCC (p.Pro82_Ala83insProPro) rs2055962577
NM_182641.4(BPTF):c.2450C>G (p.Pro817Arg)
NM_182641.4(BPTF):c.2474C>G (p.Ala825Gly) rs1007174707
NM_182641.4(BPTF):c.2521C>T (p.Arg841Ter)
NM_182641.4(BPTF):c.255del (p.Ser86fs) rs1598050118
NM_182641.4(BPTF):c.255dup (p.Ser86fs) rs1598050118
NM_182641.4(BPTF):c.2598dup (p.Glu867fs) rs753044214
NM_182641.4(BPTF):c.2717G>A (p.Gly906Asp)
NM_182641.4(BPTF):c.282dup (p.Arg95fs) rs1438959480
NM_182641.4(BPTF):c.2832_2843del (p.941_944NMDE[1]) rs749412697
NM_182641.4(BPTF):c.2840A>G (p.Asp947Gly)
NM_182641.4(BPTF):c.2882T>A (p.Ile961Lys) rs2511416555
NM_182641.4(BPTF):c.3010G>C (p.Asp1004His) rs867580057
NM_182641.4(BPTF):c.3074_3075del (p.Glu1025fs)
NM_182641.4(BPTF):c.3168ATC[1] (p.Ser1058del) rs2511451448
NM_182641.4(BPTF):c.3179T>C (p.Leu1060Pro)
NM_182641.4(BPTF):c.3209A>C (p.Gln1070Pro) rs2146911578
NM_182641.4(BPTF):c.3302del (p.Asn1101fs) rs1598599641
NM_182641.4(BPTF):c.3358A>G (p.Met1120Val)
NM_182641.4(BPTF):c.3367G>A (p.Glu1123Lys) rs369302987
NM_182641.4(BPTF):c.353G>A (p.Arg118Gln) rs1298970981
NM_182641.4(BPTF):c.3547A>T (p.Asn1183Tyr)
NM_182641.4(BPTF):c.3664A>G (p.Ser1222Gly) rs2062654435
NM_182641.4(BPTF):c.3739T>G (p.Ser1247Ala)
NM_182641.4(BPTF):c.3755C>T (p.Ala1252Val) rs2080059293
NM_182641.4(BPTF):c.3793G>A (p.Asp1265Asn)
NM_182641.4(BPTF):c.3838G>C (p.Gly1280Arg)
NM_182641.4(BPTF):c.3856A>G (p.Asn1286Asp)
NM_182641.4(BPTF):c.4100T>C (p.Leu1367Ser) rs1398890383
NM_182641.4(BPTF):c.4180G>A (p.Glu1394Lys) rs2511478008
NM_182641.4(BPTF):c.4207_4212del (p.Ser1403_Thr1404del)
NM_182641.4(BPTF):c.4466G>T (p.Ser1489Ile) rs2062710166
NM_182641.4(BPTF):c.4720A>C (p.Asn1574His) rs1568051483
NM_182641.4(BPTF):c.4757C>G (p.Thr1586Arg)
NM_182641.4(BPTF):c.4801A>G (p.Thr1601Ala) rs2146958372
NM_182641.4(BPTF):c.4826A>G (p.Asp1609Gly) rs2511500868
NM_182641.4(BPTF):c.4838_4839del (p.Val1613fs) rs1555652383
NM_182641.4(BPTF):c.4912C>T (p.Pro1638Ser) rs2062738085
NM_182641.4(BPTF):c.4987G>A (p.Asp1663Asn)
NM_182641.4(BPTF):c.5029A>G (p.Thr1677Ala) rs2511509792
NM_182641.4(BPTF):c.5038A>C (p.Lys1680Gln)
NM_182641.4(BPTF):c.5095A>C (p.Thr1699Pro) rs2062749928
NM_182641.4(BPTF):c.5212C>T (p.Arg1738Ter) rs2146966936
NM_182641.4(BPTF):c.5330T>C (p.Leu1777Ser)
NM_182641.4(BPTF):c.5546A>T (p.Glu1849Val)
NM_182641.4(BPTF):c.5557G>C (p.Glu1853Gln)
NM_182641.4(BPTF):c.5588G>A (p.Arg1863Gln) rs2147247479
NM_182641.4(BPTF):c.5603G>A (p.Arg1868Gln) rs2511797122
NM_182641.4(BPTF):c.5636G>T (p.Gly1879Val)
NM_182641.4(BPTF):c.5638C>T (p.Pro1880Ser) rs2511799009
NM_182641.4(BPTF):c.5649del (p.Ile1883fs) rs1598681680
NM_182641.4(BPTF):c.5695G>A (p.Ala1899Thr) rs1200835530
NM_182641.4(BPTF):c.5749A>G (p.Lys1917Glu) rs2511853346
NM_182641.4(BPTF):c.5765A>G (p.Gln1922Arg) rs2511972517
NM_182641.4(BPTF):c.5879C>G (p.Thr1960Ser) rs2064102524
NM_182641.4(BPTF):c.5929A>G (p.Thr1977Ala)
NM_182641.4(BPTF):c.5943C>A (p.Asn1981Lys)
NM_182641.4(BPTF):c.5960C>T (p.Thr1987Ile) rs2511980828
NM_182641.4(BPTF):c.6046A>G (p.Thr2016Ala)
NM_182641.4(BPTF):c.6112A>G (p.Asn2038Asp)
NM_182641.4(BPTF):c.6116C>T (p.Thr2039Ile) rs199611735
NM_182641.4(BPTF):c.6242C>T (p.Pro2081Leu) rs2147548518
NM_182641.4(BPTF):c.6270G>C (p.Gln2090His) rs2147817078
NM_182641.4(BPTF):c.6283C>A (p.Gln2095Lys) rs1568126386
NM_182641.4(BPTF):c.6322G>T (p.Ala2108Ser) rs1012381606
NM_182641.4(BPTF):c.6323C>T (p.Ala2108Val) rs2512353521
NM_182641.4(BPTF):c.635A>G (p.His212Arg) rs1598260874
NM_182641.4(BPTF):c.637C>G (p.Arg213Gly)
NM_182641.4(BPTF):c.6380C>T (p.Thr2127Ile) rs1176722125
NM_182641.4(BPTF):c.6410C>T (p.Pro2137Leu) rs2147820491
NM_182641.4(BPTF):c.6526A>G (p.Thr2176Ala)
NM_182641.4(BPTF):c.6534G>C (p.Gln2178His) rs2512475260
NM_182641.4(BPTF):c.6548C>T (p.Pro2183Leu) rs2147907022
NM_182641.4(BPTF):c.6562G>C (p.Val2188Leu)
NM_182641.4(BPTF):c.6598G>A (p.Ala2200Thr)
NM_182641.4(BPTF):c.6622C>T (p.Arg2208Ter) rs1158151918
NM_182641.4(BPTF):c.6686C>G (p.Ser2229Cys) rs1555673441
NM_182641.4(BPTF):c.6794C>T (p.Pro2265Leu) rs2512523386
NM_182641.4(BPTF):c.6955C>G (p.Gln2319Glu) rs1598832324
NM_182641.4(BPTF):c.6964A>G (p.Lys2322Glu) rs2512533363
NM_182641.4(BPTF):c.7037C>T (p.Pro2346Leu)
NM_182641.4(BPTF):c.7126C>A (p.Pro2376Thr) rs145519434
NM_182641.4(BPTF):c.7136C>T (p.Pro2379Leu) rs2065771257
NM_182641.4(BPTF):c.7162C>T (p.Gln2388Ter) rs2512543726
NM_182641.4(BPTF):c.7174_7205dup (p.Gln2402fs) rs2147945302
NM_182641.4(BPTF):c.7321C>T (p.Gln2441Ter) rs782167494
NM_182641.4(BPTF):c.7358T>G (p.Val2453Gly) rs2065790723
NM_182641.4(BPTF):c.7534C>T (p.Gln2512Ter)
NM_182641.4(BPTF):c.7614A>C (p.Lys2538Asn) rs2512567548
NM_182641.4(BPTF):c.7616A>C (p.Gln2539Pro) rs2147954977
NM_182641.4(BPTF):c.7763A>C (p.Gln2588Pro)
NM_182641.4(BPTF):c.7820A>G (p.Asn2607Ser) rs2147995059
NM_182641.4(BPTF):c.7916T>C (p.Ile2639Thr) rs2065960258
NM_182641.4(BPTF):c.7927-4A>G rs2067269728
NM_182641.4(BPTF):c.8035GCCCCTCCA[3] (p.2676APP[4]) rs60308484
NM_182641.4(BPTF):c.8035GCCCCTCCA[5] (p.2676APP[6]) rs60308484
NM_182641.4(BPTF):c.8113C>T (p.Pro2705Ser) rs2148300011
NM_182641.4(BPTF):c.8123C>T (p.Ser2708Phe) rs2513116123
NM_182641.4(BPTF):c.814G>A (p.Ala272Thr) rs2144988938
NM_182641.4(BPTF):c.8165A>T (p.Lys2722Met)
NM_182641.4(BPTF):c.8172G>T (p.Lys2724Asn)
NM_182641.4(BPTF):c.8260_8261+2del
NM_182641.4(BPTF):c.8262-11G>A rs1555685499
NM_182641.4(BPTF):c.8262-2A>G rs1057518354
NM_182641.4(BPTF):c.8312T>C (p.Val2771Ala)
NM_182641.4(BPTF):c.8335_8339delinsTCTTG (p.Glu2779_Leu2780delinsSerCys) rs2513277443
NM_182641.4(BPTF):c.8345A>T (p.Asp2782Val) rs2148388450
NM_182641.4(BPTF):c.8418T>G (p.Asp2806Glu)
NM_182641.4(BPTF):c.841A>G (p.Thr281Ala) rs1249286324
NM_182641.4(BPTF):c.842C>T (p.Thr281Ile) rs2510092938
NM_182641.4(BPTF):c.8447C>G (p.Ser2816Cys)
NM_182641.4(BPTF):c.8530G>A (p.Glu2844Lys)
NM_182641.4(BPTF):c.8683G>C (p.Glu2895Gln) rs2513705006
NM_182641.4(BPTF):c.8727-1G>A rs2148711902
NM_182641.4(BPTF):c.8727G>C (p.Arg2909Ser) rs2513989224
NM_182641.4(BPTF):c.8750C>T (p.Ser2917Phe) rs2513990338
NM_182641.4(BPTF):c.902C>A (p.Ser301Tyr)
NM_182641.4(BPTF):c.938G>A (p.Ser313Asn)
NM_182641.4(BPTF):c.943A>C (p.Asn315His)

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