ClinVar Miner

List of variants in gene TBXAS1 studied for not provided

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Gene type:
ClinVar version:
Total variants: 252
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HGVS dbSNP gnomAD frequency
NM_001130966.5(TBXAS1):c.-79-449G>T rs4590360 0.67914
NM_001061.7(TBXAS1):c.1226+158A>G rs740204 0.53323
NM_001061.7(TBXAS1):c.1227-181A>G rs2286200 0.46434
NM_001061.7(TBXAS1):c.689-212T>C rs3823717 0.37225
NM_001061.7(TBXAS1):c.1364+206T>C rs7781021 0.27721
NM_001061.7(TBXAS1):c.1365-293T>C rs757835 0.26354
NM_001061.7(TBXAS1):c.1364+310T>A rs10234650 0.26086
NM_001061.7(TBXAS1):c.1527+26G>A rs6139 0.05830
NM_001061.7(TBXAS1):c.1066C>G (p.Leu356Val) rs4529 0.03380
NM_001061.7(TBXAS1):c.1285G>A (p.Ala429Thr) rs4526 0.01839
NM_001061.7(TBXAS1):c.1302C>T (p.Ala434=) rs4527 0.01715
NM_001061.7(TBXAS1):c.769A>G (p.Lys257Glu) rs5769 0.01714
NM_001061.7(TBXAS1):c.1349C>A (p.Thr450Asn) rs5763 0.01438
NM_001061.7(TBXAS1):c.1345G>A (p.Glu449Lys) rs8192868 0.01306
NM_001061.7(TBXAS1):c.1246C>G (p.Gln416Glu) rs4528 0.00853
NM_001061.7(TBXAS1):c.357G>A (p.Ser119=) rs41275018 0.00538
NM_001061.7(TBXAS1):c.688+19C>T rs141298701 0.00508
NM_001061.7(TBXAS1):c.480C>A (p.Asp160Glu) rs5768 0.00465
NM_001061.7(TBXAS1):c.333+19G>A rs149765908 0.00405
NM_001061.7(TBXAS1):c.1532C>T (p.Pro511Leu) rs13306050 0.00286
NM_001061.7(TBXAS1):c.1270C>T (p.Arg424Cys) rs5762 0.00212
NM_001061.7(TBXAS1):c.880G>A (p.Val294Met) rs13306052 0.00171
NM_001061.7(TBXAS1):c.1201C>T (p.Leu401=) rs143966863 0.00143
NM_001061.7(TBXAS1):c.592C>G (p.Pro198Ala) rs138612126 0.00143
NM_001061.7(TBXAS1):c.179G>A (p.Arg60His) rs6138 0.00124
NM_001061.7(TBXAS1):c.1394G>A (p.Arg465Gln) rs41311778 0.00121
NM_001061.7(TBXAS1):c.208C>T (p.Leu70Phe) rs140463378 0.00108
NM_001061.7(TBXAS1):c.1159G>A (p.Glu387Lys) rs3735354 0.00091
NM_001061.7(TBXAS1):c.334-15G>A rs5767 0.00090
NM_001061.7(TBXAS1):c.621T>A (p.Asp207Glu) rs143125111 0.00072
NM_001061.7(TBXAS1):c.623C>G (p.Pro208Arg) rs137946697 0.00045
NM_001061.7(TBXAS1):c.1520A>T (p.Glu507Val) rs200663004 0.00044
NM_001061.7(TBXAS1):c.999C>T (p.Gly333=) rs149759095 0.00044
NM_001061.7(TBXAS1):c.263T>C (p.Ile88Thr) rs184269562 0.00042
NM_001061.7(TBXAS1):c.335C>T (p.Ala112Val) rs139976441 0.00041
NM_001061.7(TBXAS1):c.590C>A (p.Thr197Asn) rs560818343 0.00039
NM_001061.7(TBXAS1):c.1423G>A (p.Gly475Ser) rs139418226 0.00033
NM_001061.7(TBXAS1):c.734A>G (p.Asn245Ser) rs55856189 0.00033
NM_001061.7(TBXAS1):c.1254C>T (p.Cys418=) rs13306049 0.00031
NM_001061.7(TBXAS1):c.726T>C (p.Ile242=) rs572759693 0.00029
NM_001061.7(TBXAS1):c.333+4C>T rs5766 0.00020
NM_001061.7(TBXAS1):c.1279G>A (p.Ala427Thr) rs2286199 0.00019
NM_001061.7(TBXAS1):c.1057G>T (p.Ala353Ser) rs145733169 0.00014
NM_001061.7(TBXAS1):c.1255G>A (p.Glu419Lys) rs150087656 0.00014
NM_001061.7(TBXAS1):c.183+5G>A rs368506589 0.00014
NM_001061.7(TBXAS1):c.414C>G (p.Ala138=) rs369644265 0.00014
NM_001061.7(TBXAS1):c.796C>T (p.Arg266Trp) rs140774405 0.00014
NM_001061.7(TBXAS1):c.992T>C (p.Ile331Thr) rs6140 0.00014
NM_001061.7(TBXAS1):c.178C>T (p.Arg60Cys) rs143035930 0.00013
NM_001061.7(TBXAS1):c.1587G>A (p.Lys529=) rs200093421 0.00011
NM_001061.7(TBXAS1):c.1596C>T (p.Ser532=) rs202145405 0.00011
NM_001061.7(TBXAS1):c.364G>A (p.Asp122Asn) rs368719678 0.00010
NM_001061.7(TBXAS1):c.447C>T (p.Asn149=) rs199666672 0.00010
NM_001061.7(TBXAS1):c.722G>A (p.Arg241Gln) rs568328354 0.00010
NM_001061.7(TBXAS1):c.856C>T (p.Arg286Ter) rs766799764 0.00010
NM_001061.7(TBXAS1):c.245T>C (p.Leu82Pro) rs140005285 0.00009
NM_001061.7(TBXAS1):c.1215G>A (p.Pro405=) rs548305901 0.00007
NM_001061.7(TBXAS1):c.1269G>A (p.Gln423=) rs202122899 0.00007
NM_001061.7(TBXAS1):c.1417G>T (p.Gly473Trp) rs149988492 0.00006
NM_001061.7(TBXAS1):c.370G>A (p.Val124Ile) rs8192833 0.00006
NM_001061.7(TBXAS1):c.1343C>T (p.Pro448Leu) rs773129737 0.00005
NM_001061.7(TBXAS1):c.1311C>T (p.Ala437=) rs752344771 0.00004
NM_001061.7(TBXAS1):c.1527+9C>A rs755930985 0.00004
NM_001061.7(TBXAS1):c.251G>T (p.Arg84Leu) rs193110720 0.00004
NM_001061.7(TBXAS1):c.790G>T (p.Ala264Ser) rs376564758 0.00004
NM_001061.7(TBXAS1):c.1186G>C (p.Val396Leu) rs201269727 0.00003
NM_001061.7(TBXAS1):c.1370C>T (p.Thr457Met) rs200831963 0.00003
NM_001061.7(TBXAS1):c.183+3A>G rs753166744 0.00003
NM_001061.7(TBXAS1):c.338C>T (p.Ser113Leu) rs545470216 0.00003
NM_001061.7(TBXAS1):c.356C>T (p.Ser119Leu) rs773309398 0.00003
NM_001061.7(TBXAS1):c.1580A>G (p.Tyr527Cys) rs780924927 0.00002
NM_001061.7(TBXAS1):c.503G>A (p.Arg168His) rs150139510 0.00002
NM_001061.7(TBXAS1):c.539+9G>A rs551816107 0.00002
NM_001061.7(TBXAS1):c.636C>T (p.His212=) rs142313797 0.00002
NM_001061.7(TBXAS1):c.1235G>A (p.Arg412Gln) rs199422117 0.00001
NM_001061.7(TBXAS1):c.1271G>A (p.Arg424His) rs781107536 0.00001
NM_001061.7(TBXAS1):c.1273A>G (p.Ile425Val) rs971460206 0.00001
NM_001061.7(TBXAS1):c.1381C>T (p.Arg461Trp) rs5764 0.00001
NM_001061.7(TBXAS1):c.1388A>G (p.Gln463Arg) rs752926435 0.00001
NM_001061.7(TBXAS1):c.193G>A (p.Glu65Lys) rs775012519 0.00001
NM_001061.7(TBXAS1):c.224G>A (p.Gly75Glu) rs768124977 0.00001
NM_001061.7(TBXAS1):c.297G>A (p.Val99=) rs754565649 0.00001
NM_001061.7(TBXAS1):c.506A>G (p.Tyr169Cys) rs368121899 0.00001
NM_001061.7(TBXAS1):c.555C>T (p.Tyr185=) rs758221656 0.00001
NM_001061.7(TBXAS1):c.558C>A (p.Thr186=) rs372676819 0.00001
NM_001061.7(TBXAS1):c.629T>A (p.Val210Glu) rs757201633 0.00001
NM_001061.7(TBXAS1):c.792C>T (p.Ala264=) rs1375797305 0.00001
NM_001061.7(TBXAS1):c.797G>C (p.Arg266Pro) rs145426879 0.00001
NM_001061.7(TBXAS1):c.90-1G>C rs765686939 0.00001
GRCh37/hg19 7q34(chr7:139548076-139680096)x1
NC_000007.13:g.(?_139529187)_(139662052_?)dup
NC_000007.13:g.(?_139575364)_(139611140_?)del
NC_000007.13:g.(?_139611004)_(139611140_?)del
NC_000007.13:g.(?_139635970)_(139636126_?)del
NC_000007.13:g.(?_139661698)_(139707002_?)dup
NC_000007.13:g.(?_139715503)_(139715680_?)del
NC_000007.14:g.139955459del
NM_001061.7(TBXAS1):c.1005C>G (p.Ala335=)
NM_001061.7(TBXAS1):c.1020C>T (p.Ile340=)
NM_001061.7(TBXAS1):c.1074C>T (p.Ala358=)
NM_001061.7(TBXAS1):c.1080C>T (p.Asn360=)
NM_001061.7(TBXAS1):c.1083dup (p.Asp362Ter)
NM_001061.7(TBXAS1):c.1109_1110del (p.Glu370fs)
NM_001061.7(TBXAS1):c.1112T>C (p.Val371Ala)
NM_001061.7(TBXAS1):c.112A>G (p.Arg38Gly)
NM_001061.7(TBXAS1):c.1135-14G>A
NM_001061.7(TBXAS1):c.1138G>A (p.Ala380Thr)
NM_001061.7(TBXAS1):c.1143T>C (p.Pro381=)
NM_001061.7(TBXAS1):c.1158C>T (p.Leu386=)
NM_001061.7(TBXAS1):c.1167C>T (p.Gly389=)
NM_001061.7(TBXAS1):c.1203G>A (p.Leu401=) rs5761
NM_001061.7(TBXAS1):c.1226+14C>G
NM_001061.7(TBXAS1):c.1226+7G>A
NM_001061.7(TBXAS1):c.1227-15T>C
NM_001061.7(TBXAS1):c.1227-17C>T
NM_001061.7(TBXAS1):c.1227-19G>C
NM_001061.7(TBXAS1):c.1227-20C>T
NM_001061.7(TBXAS1):c.1227-9T>C
NM_001061.7(TBXAS1):c.122_135del (p.Lys41fs) rs763326515
NM_001061.7(TBXAS1):c.1234C>T (p.Arg412Trp)
NM_001061.7(TBXAS1):c.1243G>A (p.Ala415Thr) rs754575232
NM_001061.7(TBXAS1):c.1278C>T (p.Pro426=)
NM_001061.7(TBXAS1):c.1284C>T (p.Gly428=)
NM_001061.7(TBXAS1):c.1301C>T (p.Ala434Val) rs1021649967
NM_001061.7(TBXAS1):c.1341C>T (p.Ser447=) rs113298427
NM_001061.7(TBXAS1):c.1344G>A (p.Pro448=)
NM_001061.7(TBXAS1):c.1364+251G>A rs7791455
NM_001061.7(TBXAS1):c.1364+272T>C rs35903524
NM_001061.7(TBXAS1):c.1365-10G>A rs765137338
NM_001061.7(TBXAS1):c.1365-10G>C
NM_001061.7(TBXAS1):c.1365-11C>T
NM_001061.7(TBXAS1):c.1365-2A>G
NM_001061.7(TBXAS1):c.1371G>A (p.Thr457=)
NM_001061.7(TBXAS1):c.1381_1387del (p.Arg461fs)
NM_001061.7(TBXAS1):c.1382G>A (p.Arg461Gln)
NM_001061.7(TBXAS1):c.1404G>A (p.Thr468=)
NM_001061.7(TBXAS1):c.1416C>T (p.Phe472=)
NM_001061.7(TBXAS1):c.1417G>A (p.Gly473Arg)
NM_001061.7(TBXAS1):c.1420del (p.Ala474fs) rs794727053
NM_001061.7(TBXAS1):c.1422C>G (p.Ala474=)
NM_001061.7(TBXAS1):c.1422C>T (p.Ala474=)
NM_001061.7(TBXAS1):c.1430G>A (p.Arg477Gln)
NM_001061.7(TBXAS1):c.1437C>T (p.Cys479=)
NM_001061.7(TBXAS1):c.1440C>T (p.Leu480=)
NM_001061.7(TBXAS1):c.1448G>A (p.Arg483His)
NM_001061.7(TBXAS1):c.1496A>C (p.Lys499Thr)
NM_001061.7(TBXAS1):c.1527+14G>T
NM_001061.7(TBXAS1):c.1527+20_1527+25dup
NM_001061.7(TBXAS1):c.1528-17_1528-12del
NM_001061.7(TBXAS1):c.1533G>A (p.Pro511=)
NM_001061.7(TBXAS1):c.1534C>T (p.Leu512=)
NM_001061.7(TBXAS1):c.1539G>A (p.Gln513=)
NM_001061.7(TBXAS1):c.1571del (p.Asn524fs)
NM_001061.7(TBXAS1):c.1590C>T (p.Ile530=)
NM_001061.7(TBXAS1):c.1597C>T (p.Arg533Cys)
NM_001061.7(TBXAS1):c.1598G>A (p.Arg533His)
NM_001061.7(TBXAS1):c.170C>G (p.Thr57Arg)
NM_001061.7(TBXAS1):c.179G>T (p.Arg60Leu) rs6138
NM_001061.7(TBXAS1):c.183+18T>G
NM_001061.7(TBXAS1):c.183+7G>A
NM_001061.7(TBXAS1):c.184-11_184-10del
NM_001061.7(TBXAS1):c.184-15C>T
NM_001061.7(TBXAS1):c.184G>T (p.Gly62Cys)
NM_001061.7(TBXAS1):c.229C>A (p.Leu77Met)
NM_001061.7(TBXAS1):c.236+20TTTCTATTATGTACGATAT[3]
NM_001061.7(TBXAS1):c.236+42_236+60del
NM_001061.7(TBXAS1):c.236+8G>A
NM_001061.7(TBXAS1):c.237-12dup rs541211877
NM_001061.7(TBXAS1):c.243T>C (p.Tyr81=)
NM_001061.7(TBXAS1):c.247G>C (p.Gly83Arg)
NM_001061.7(TBXAS1):c.265G>A (p.Val89Ile)
NM_001061.7(TBXAS1):c.274G>A (p.Glu92Lys)
NM_001061.7(TBXAS1):c.302T>A (p.Val101Asp) rs370871916
NM_001061.7(TBXAS1):c.302T>G (p.Val101Gly)
NM_001061.7(TBXAS1):c.333+15T>A
NM_001061.7(TBXAS1):c.333+17C>G
NM_001061.7(TBXAS1):c.333+18C>T
NM_001061.7(TBXAS1):c.333+19_333+20insGAAAG
NM_001061.7(TBXAS1):c.333+2T>C
NM_001061.7(TBXAS1):c.333+8_333+13del
NM_001061.7(TBXAS1):c.334-18C>T
NM_001061.7(TBXAS1):c.334-20_334-19insA
NM_001061.7(TBXAS1):c.336G>A (p.Ala112=)
NM_001061.7(TBXAS1):c.336G>C (p.Ala112=)
NM_001061.7(TBXAS1):c.357G>C (p.Ser119=)
NM_001061.7(TBXAS1):c.363C>T (p.Ala121=)
NM_001061.7(TBXAS1):c.366C>T (p.Asp122=)
NM_001061.7(TBXAS1):c.373_374del (p.Leu125fs)
NM_001061.7(TBXAS1):c.382C>T (p.Arg128Cys)
NM_001061.7(TBXAS1):c.396G>A (p.Trp132Ter)
NM_001061.7(TBXAS1):c.448G>A (p.Glu150Lys)
NM_001061.7(TBXAS1):c.450+16T>C
NM_001061.7(TBXAS1):c.450+6A>G
NM_001061.7(TBXAS1):c.450G>A (p.Glu150=)
NM_001061.7(TBXAS1):c.451-710G>C
NM_001061.7(TBXAS1):c.464T>A (p.Ile155Asn)
NM_001061.7(TBXAS1):c.473C>A (p.Ala158Asp)
NM_001061.7(TBXAS1):c.480= (p.Asp160=)
NM_001061.7(TBXAS1):c.510G>A (p.Ala170=)
NM_001061.7(TBXAS1):c.522C>T (p.Asp174=)
NM_001061.7(TBXAS1):c.539+12G>T rs1320724304
NM_001061.7(TBXAS1):c.540-12C>T
NM_001061.7(TBXAS1):c.540-14C>T
NM_001061.7(TBXAS1):c.576C>T (p.Ser192=)
NM_001061.7(TBXAS1):c.577G>A (p.Val193Ile)
NM_001061.7(TBXAS1):c.580G>A (p.Ala194Thr)
NM_001061.7(TBXAS1):c.584T>C (p.Phe195Ser)
NM_001061.7(TBXAS1):c.589A>C (p.Thr197Pro)
NM_001061.7(TBXAS1):c.594G>A (p.Pro198=)
NM_001061.7(TBXAS1):c.597G>A (p.Val199=)
NM_001061.7(TBXAS1):c.614_615del (p.Pro205fs)
NM_001061.7(TBXAS1):c.642G>A (p.Lys214=)
NM_001061.7(TBXAS1):c.666C>T (p.Pro222=)
NM_001061.7(TBXAS1):c.678G>A (p.Leu226=)
NM_001061.7(TBXAS1):c.688+10G>A
NM_001061.7(TBXAS1):c.688+20G>A
NM_001061.7(TBXAS1):c.688+2T>G
NM_001061.7(TBXAS1):c.688+8C>T
NM_001061.7(TBXAS1):c.688+9G>A
NM_001061.7(TBXAS1):c.692C>T (p.Ser231Leu) rs2117348754
NM_001061.7(TBXAS1):c.741C>G (p.Asn247Lys) rs1339535067
NM_001061.7(TBXAS1):c.742C>T (p.Arg248Ter) rs200644306
NM_001061.7(TBXAS1):c.785T>C (p.Val262Ala)
NM_001061.7(TBXAS1):c.794T>A (p.Leu265Ter) rs2117350219
NM_001061.7(TBXAS1):c.797G>A (p.Arg266Gln) rs145426879
NM_001061.7(TBXAS1):c.814G>A (p.Glu272Lys)
NM_001061.7(TBXAS1):c.816A>G (p.Glu272=)
NM_001061.7(TBXAS1):c.819+18G>A
NM_001061.7(TBXAS1):c.819+1G>A
NM_001061.7(TBXAS1):c.819+5C>T
NM_001061.7(TBXAS1):c.823C>T (p.Arg275Trp)
NM_001061.7(TBXAS1):c.871C>T (p.Pro291Ser) rs1810388588
NM_001061.7(TBXAS1):c.878G>A (p.Gly293Asp)
NM_001061.7(TBXAS1):c.879C>A (p.Gly293=)
NM_001061.7(TBXAS1):c.893_898del (p.Asp298_Ile299del) rs1057518055
NM_001061.7(TBXAS1):c.898G>A (p.Val300Ile)
NM_001061.7(TBXAS1):c.906C>T (p.Asp302=)
NM_001061.7(TBXAS1):c.907G>A (p.Val303Ile)
NM_001061.7(TBXAS1):c.924G>A (p.Gly308=) rs1313888915
NM_001061.7(TBXAS1):c.926G>A (p.Cys309Tyr)
NM_001061.7(TBXAS1):c.932C>T (p.Pro311Leu)
NM_001061.7(TBXAS1):c.933G>A (p.Pro311=)
NM_001061.7(TBXAS1):c.937C>A (p.Pro313Thr)
NM_001061.7(TBXAS1):c.943del (p.Arg315fs)
NM_001061.7(TBXAS1):c.944G>A (p.Arg315Gln)
NM_001061.7(TBXAS1):c.950_951del (p.His317fs)
NM_001061.7(TBXAS1):c.954G>T (p.Gln318His) rs2117380430
NM_001061.7(TBXAS1):c.958_962dup (p.Met322fs)
NM_001061.7(TBXAS1):c.965T>A (p.Met322Lys) rs774212687
NM_001061.7(TBXAS1):c.965T>C (p.Met322Thr)
NM_001061.7(TBXAS1):c.973C>A (p.Pro325Thr)
NM_001061.7(TBXAS1):c.990G>A (p.Glu330=)

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