ClinVar Miner

List of variants studied for acrocephalosyndactyly by Illumina Laboratory Services, Illumina

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 167
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HGVS dbSNP gnomAD frequency
NM_000141.5(FGFR2):c.2301+15C>T rs2278202 0.45747
NM_000141.5(FGFR2):c.*259C>T rs1047057 0.43446
NM_004282.4(BAG2):c.*4531G>A rs9382689 0.26771
NM_004282.4(BAG2):c.*3998A>G rs12211901 0.15833
NM_004282.4(BAG2):c.*4959T>C rs11398 0.15738
NM_016277.5(RAB23):c.*416G>C rs1411578 0.15575
NM_004282.4(BAG2):c.*2941T>C rs72868608 0.14761
NM_000141.5(FGFR2):c.-157A>G rs41258305 0.13622
NM_016277.5(RAB23):c.619G>A (p.Gly207Ser) rs1040461 0.11850
NM_000141.5(FGFR2):c.557T>C (p.Met186Thr) rs755793 0.10553
NM_004282.4(BAG2):c.*3846C>T rs62415930 0.03322
NM_000141.5(FGFR2):c.-318G>C rs41301547 0.02864
NM_000141.5(FGFR2):c.1941C>T (p.Leu647=) rs35337478 0.02240
NM_000141.5(FGFR2):c.*469G>A rs41294351 0.01826
NM_004282.4(BAG2):c.*5020C>T rs182662 0.01805
NM_000141.5(FGFR2):c.-458C>A rs41301043 0.01688
NM_000141.5(FGFR2):c.*403A>G rs3135826 0.01590
NM_000141.5(FGFR2):c.*1319A>G rs3135830 0.01380
NM_004282.4(BAG2):c.*3786T>C rs16888376 0.01354
NM_004282.4(BAG2):c.*5460C>T rs16888378 0.01316
NM_000141.5(FGFR2):c.109+10T>G rs3135722 0.00799
NM_000141.5(FGFR2):c.294G>A (p.Thr98=) rs1047101 0.00776
NM_016277.5(RAB23):c.301T>G (p.Ser101Ala) rs45479896 0.00589
NM_016277.5(RAB23):c.-23C>T rs145059995 0.00424
NM_000141.5(FGFR2):c.159G>A (p.Ala53=) rs1047102 0.00414
NM_000141.5(FGFR2):c.*324A>G rs150519853 0.00402
NM_000141.5(FGFR2):c.*184C>T rs4647917 0.00359
NM_000141.5(FGFR2):c.-358C>T rs41301545 0.00345
NM_000141.5(FGFR2):c.1572A>G (p.Thr524=) rs74160613 0.00298
NM_000141.5(FGFR2):c.-74G>A rs4647922 0.00294
NM_000141.5(FGFR2):c.170C>T (p.Ser57Leu) rs56226109 0.00271
NM_000141.5(FGFR2):c.17G>C (p.Arg6Pro) rs3750819 0.00250
NM_000141.5(FGFR2):c.1539C>T (p.Thr513=) rs74160617 0.00234
NM_016277.5(RAB23):c.*544G>A rs138311113 0.00213
NM_004282.4(BAG2):c.*4565A>G rs11969200 0.00198
NM_000141.5(FGFR2):c.-46G>A rs201606812 0.00193
NM_000141.5(FGFR2):c.2001C>G (p.Val667=) rs61731218 0.00187
NM_000141.5(FGFR2):c.1673-12C>T rs41293763 0.00186
NM_000141.5(FGFR2):c.*111G>A rs574474794 0.00164
NM_000141.5(FGFR2):c.*1301C>T rs71640261 0.00159
NM_000141.5(FGFR2):c.454+14C>T rs112142377 0.00152
NM_000141.5(FGFR2):c.939+11T>C rs145303463 0.00134
NM_000141.5(FGFR2):c.-61G>T rs3135721 0.00130
NM_000141.5(FGFR2):c.23T>G (p.Ile8Ser) rs147307031 0.00107
NM_023110.3(FGFR1):c.*2104del rs201364530 0.00099
NM_004282.4(BAG2):c.*4263C>T rs549684091 0.00093
NM_004282.4(BAG2):c.*5594A>G rs375855440 0.00093
NM_004282.4(BAG2):c.*3082A>G rs139222657 0.00086
NM_004282.4(BAG2):c.*3685C>T rs547766165 0.00079
NM_004282.4(BAG2):c.*5549A>G rs143345846 0.00076
NM_016277.5(RAB23):c.536A>C (p.Glu179Ala) rs150440590 0.00056
NM_000141.5(FGFR2):c.2190C>T (p.Asn730=) rs55637244 0.00040
NM_004282.4(BAG2):c.*5287C>T rs148372304 0.00034
NM_000141.5(FGFR2):c.-135C>T rs554557891 0.00033
NM_000141.5(FGFR2):c.*674G>T rs566155088 0.00029
NM_000141.5(FGFR2):c.-165G>A rs886046766 0.00029
NM_004282.4(BAG2):c.*3238G>A rs749068215 0.00029
NM_000141.5(FGFR2):c.*921G>A rs185617859 0.00027
NM_000141.5(FGFR2):c.1085-13A>T rs41295573 0.00024
NM_000141.5(FGFR2):c.-173G>A rs540975865 0.00019
NM_004282.4(BAG2):c.*3590C>T rs773395495 0.00016
NM_004282.4(BAG2):c.*4737A>C rs778774458 0.00016
NM_004282.4(BAG2):c.*5140G>C rs541307925 0.00016
NM_000141.5(FGFR2):c.-622G>A rs886046768 0.00014
NM_004282.4(BAG2):c.*3518C>T rs896219710 0.00014
NM_000141.5(FGFR2):c.1774C>T (p.Arg592Cys) rs141929882 0.00012
NM_000141.5(FGFR2):c.625-10A>G rs201512833 0.00011
NM_000141.5(FGFR2):c.989G>A (p.Arg330Gln) rs199757302 0.00011
NM_004282.4(BAG2):c.*3142C>G rs562371430 0.00011
NM_004282.4(BAG2):c.*3395A>G rs561133735 0.00011
NM_004282.4(BAG2):c.*3502G>T rs550035886 0.00011
NM_004282.4(BAG2):c.*5351G>C rs530900959 0.00011
NM_000141.5(FGFR2):c.-237C>A rs1013618217 0.00010
NM_000141.5(FGFR2):c.33C>T (p.Val11=) rs200562301 0.00009
NM_000141.5(FGFR2):c.-371C>T rs527570655 0.00006
NM_000141.5(FGFR2):c.1548G>A (p.Val516=) rs200522893 0.00006
NM_000141.5(FGFR2):c.201C>T (p.Ala67=) rs200386134 0.00006
NM_004282.4(BAG2):c.*4604_*4606dup rs886061651 0.00006
NM_000141.5(FGFR2):c.*736dup rs886046762 0.00005
NM_000141.5(FGFR2):c.780C>T (p.Ala260=) rs778288494 0.00005
NM_016277.5(RAB23):c.123C>T (p.Thr41=) rs759408401 0.00005
NM_000141.5(FGFR2):c.*874A>G rs55723405 0.00004
NM_000141.5(FGFR2):c.-535G>C rs886046767 0.00004
NM_000141.5(FGFR2):c.2415C>T (p.Tyr805=) rs558460047 0.00004
NM_004282.4(BAG2):c.*3930G>T rs571856902 0.00004
NM_004282.4(BAG2):c.*4204T>C rs191147024 0.00004
NM_016277.5(RAB23):c.*618A>G rs886061653 0.00004
NM_016277.5(RAB23):c.*81G>T rs1304531152 0.00004
NM_016277.5(RAB23):c.54A>G (p.Gly18=) rs767442221 0.00004
NM_016277.5(RAB23):c.616T>A (p.Ser206Thr) rs202181599 0.00004
NM_016277.5(RAB23):c.670A>T (p.Thr224Ser) rs748638791 0.00004
NM_000141.5(FGFR2):c.*1126T>C rs370106008 0.00003
NM_000141.5(FGFR2):c.*1489C>T rs886046757 0.00003
NM_000141.5(FGFR2):c.*463A>G rs373313930 0.00003
NM_000141.5(FGFR2):c.*730G>C rs549293047 0.00003
NM_000141.5(FGFR2):c.-206C>A rs1238787517 0.00003
NM_000141.5(FGFR2):c.772C>T (p.Leu258Phe) rs747171741 0.00003
NM_016277.5(RAB23):c.-49C>T rs45474592 0.00003
NM_000141.4(FGFR2):c.*1539C>A rs1194799333 0.00002
NM_000141.5(FGFR2):c.879C>T (p.His293=) rs55745510 0.00002
NM_000141.5(FGFR2):c.*1369C>T rs886046759 0.00001
NM_000141.5(FGFR2):c.*497T>C rs3135827 0.00001
NM_000141.5(FGFR2):c.-128G>A rs547739869 0.00001
NM_000141.5(FGFR2):c.-129C>T rs886046765 0.00001
NM_000141.5(FGFR2):c.-196G>A rs1457119353 0.00001
NM_000141.5(FGFR2):c.1167C>G (p.Ala389=) rs757648006 0.00001
NM_000141.5(FGFR2):c.1213A>G (p.Lys405Glu) rs772986332 0.00001
NM_000141.5(FGFR2):c.1239G>A (p.Pro413=) rs147674677 0.00001
NM_000141.5(FGFR2):c.1562-11A>G rs41293744 0.00001
NM_000141.5(FGFR2):c.1562A>G (p.Asp521Gly) rs55689343 0.00001
NM_000141.5(FGFR2):c.204C>T (p.Ala68=) rs747982371 0.00001
NM_004282.4(BAG2):c.*3952A>G rs1159890588 0.00001
NM_004282.4(BAG2):c.*4026A>G rs908169983 0.00001
NM_004282.4(BAG2):c.*5476C>T rs1387081917 0.00001
NM_016277.5(RAB23):c.*145T>C rs189570356 0.00001
NM_016277.5(RAB23):c.218C>T (p.Ala73Val) rs556931606 0.00001
NM_016277.5(RAB23):c.239G>A (p.Arg80Gln) rs145669565 0.00001
NM_016277.5(RAB23):c.398+9G>A rs376839366 0.00001
NM_016277.5(RAB23):c.664C>G (p.Gln222Glu) rs756536052 0.00001
NM_016277.5(RAB23):c.714A>G (p.Ter238=) rs142290596 0.00001
NM_016277.5(RAB23):c.82C>T (p.Arg28Ter) rs765443042 0.00001
NM_016277.5(RAB23):c.93A>G (p.Lys31=) rs201735614 0.00001
NM_000141.5(FGFR2):c.*1070T>C rs886046761
NM_000141.5(FGFR2):c.*1240A>C rs1403038230
NM_000141.5(FGFR2):c.*1283C>G rs1844298421
NM_000141.5(FGFR2):c.*1287A>C rs886046760
NM_000141.5(FGFR2):c.*1402T>C rs886046758
NM_000141.5(FGFR2):c.*1498_*1502del rs566259479
NM_000141.5(FGFR2):c.*197del rs748777325
NM_000141.5(FGFR2):c.*256G>A rs763095219
NM_000141.5(FGFR2):c.*641_*644del rs548465887
NM_000141.5(FGFR2):c.-108C>T rs540720034
NM_000141.5(FGFR2):c.-17G>C rs766629665
NM_000141.5(FGFR2):c.-236G>A rs1047111
NM_000141.5(FGFR2):c.-236G>C rs1047111
NM_000141.5(FGFR2):c.-298_-297dup rs41301549
NM_000141.5(FGFR2):c.-590G>C rs1221108798
NM_000141.5(FGFR2):c.-603C>T rs1863754113
NM_000141.5(FGFR2):c.-626C>A rs549524538
NM_000141.5(FGFR2):c.1093A>C (p.Arg365=) rs1849564914
NM_000141.5(FGFR2):c.110-22TC[3] rs773932794
NM_000141.5(FGFR2):c.1179A>T (p.Val393=) rs886046763
NM_000141.5(FGFR2):c.1485G>T (p.Val495=) rs1362401352
NM_000141.5(FGFR2):c.1539C>A (p.Thr513=) rs74160617
NM_000141.5(FGFR2):c.2045A>G (p.His682Arg) rs1845557012
NM_000141.5(FGFR2):c.2416G>A (p.Glu806Lys) rs764959117
NM_000141.5(FGFR2):c.351T>C (p.Thr117=) rs886046764
NM_000141.5(FGFR2):c.625-8C>T rs1853240523
NM_000141.5(FGFR2):c.696A>G (p.Val232=) rs1047100
NM_000141.5(FGFR2):c.714G>A (p.Gly238=) rs1276387170
NM_000141.5(FGFR2):c.91A>T (p.Thr31Ser) rs1863017903
NM_000474.4(TWIST1):c.408del (p.Thr137fs)
NM_004282.4(BAG2):c.*2973T>C rs1170431413
NM_004282.4(BAG2):c.*4454T>C rs368441472
NM_004282.4(BAG2):c.*4735A>C rs931746824
NM_004282.4(BAG2):c.*4777T>C rs1764724130
NM_004282.4(BAG2):c.*5084TGAT[3] rs139778770
NM_004282.4(BAG2):c.*5219A>G rs1764744688
NM_004282.4(BAG2):c.*5421T>C rs1764753710
NM_004282.4(BAG2):c.*5536A>C rs886061652
NM_016277.5(RAB23):c.*117A>G rs1764790940
NM_016277.5(RAB23):c.*600AATT[1] rs886061654
NM_016277.5(RAB23):c.156-9T>C rs1380069219
NM_016277.5(RAB23):c.223A>T (p.Thr75Ser) rs774195943
NM_016277.5(RAB23):c.242-31ATTG[6] rs45542438
NM_016277.5(RAB23):c.389G>C (p.Cys130Ser) rs1485030118
NM_016277.5(RAB23):c.399-14A>T rs974936952

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