ClinVar Miner

List of variants in gene CHD7 reported by Eurofins NTD LLC (GA)

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Gene type:
ClinVar version:
Total variants: 151
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HGVS dbSNP gnomAD frequency
NM_017780.4(CHD7):c.6103+8C>T rs3763592 0.14641
NM_017780.4(CHD7):c.6276G>A (p.Glu2092=) rs2068096 0.12528
NM_017780.4(CHD7):c.7356A>G (p.Thr2452=) rs2272727 0.04082
NM_017780.4(CHD7):c.6135G>A (p.Pro2045=) rs6999971 0.03071
NM_017780.4(CHD7):c.2124T>C (p.Ser708=) rs79302359 0.01911
NM_017780.4(CHD7):c.5307C>T (p.Ala1769=) rs16926499 0.01905
NM_017780.4(CHD7):c.6738G>A (p.Glu2246=) rs61729627 0.01533
NM_017780.4(CHD7):c.307T>A (p.Ser103Thr) rs41272435 0.01358
NM_017780.4(CHD7):c.4534-13T>G rs114996731 0.01094
NM_017780.4(CHD7):c.657C>T (p.Gly219=) rs113483301 0.00881
NM_017780.4(CHD7):c.6111C>T (p.Pro2037=) rs41312170 0.00625
NM_017780.4(CHD7):c.309G>A (p.Ser103=) rs115293759 0.00586
NM_017780.4(CHD7):c.5051-4C>T rs71640288 0.00577
NM_017780.4(CHD7):c.1018A>G (p.Met340Val) rs41305525 0.00505
NM_017780.4(CHD7):c.2230G>A (p.Gly744Ser) rs141947938 0.00470
NM_017780.4(CHD7):c.8950C>T (p.Leu2984Phe) rs184814820 0.00358
NM_017780.4(CHD7):c.6282A>G (p.Gly2094=) rs41312172 0.00354
NM_017780.4(CHD7):c.856A>G (p.Arg286Gly) rs61995713 0.00290
NM_017780.4(CHD7):c.7579A>C (p.Met2527Leu) rs192129249 0.00267
NM_017780.4(CHD7):c.7209G>A (p.Arg2403=) rs61746518 0.00255
NM_017780.4(CHD7):c.3697G>A (p.Gly1233Ser) rs190548814 0.00239
NM_017780.4(CHD7):c.8790C>T (p.Ala2930=) rs61736186 0.00229
NM_017780.4(CHD7):c.1536A>G (p.Pro512=) rs148577619 0.00218
NM_017780.4(CHD7):c.216T>C (p.Tyr72=) rs16926453 0.00217
NM_017780.4(CHD7):c.8439C>T (p.Gly2813=) rs201132710 0.00187
NM_017780.4(CHD7):c.1179A>G (p.Pro393=) rs111238892 0.00177
NM_017780.4(CHD7):c.8416C>G (p.Leu2806Val) rs45521933 0.00176
NM_017780.4(CHD7):c.5754T>C (p.Thr1918=) rs61746542 0.00167
NM_017780.4(CHD7):c.5757C>G (p.Ala1919=) rs79203206 0.00160
NM_017780.4(CHD7):c.712G>A (p.Val238Met) rs200898742 0.00153
NM_017780.4(CHD7):c.7278G>A (p.Gln2426=) rs187311127 0.00152
NM_017780.4(CHD7):c.1419G>C (p.Gly473=) rs186394299 0.00144
NM_017780.4(CHD7):c.1397C>T (p.Ser466Leu) rs71640285 0.00137
NM_017780.4(CHD7):c.1565G>T (p.Gly522Val) rs142962579 0.00101
NM_017780.4(CHD7):c.6660T>G (p.Gly2220=) rs34527521 0.00100
NM_017780.4(CHD7):c.2436A>T (p.Lys812Asn) rs61978638 0.00083
NM_017780.4(CHD7):c.7165-5A>G rs376076407 0.00078
NM_017780.4(CHD7):c.3202-5T>C rs147994149 0.00076
NM_017780.4(CHD7):c.7313A>C (p.Gln2438Pro) rs754894988 0.00075
NM_017780.4(CHD7):c.7595C>T (p.Thr2532Met) rs201032343 0.00062
NM_017780.4(CHD7):c.2835+8T>C rs202141372 0.00060
NM_017780.4(CHD7):c.5300+8C>T rs151322460 0.00055
NM_017780.4(CHD7):c.360C>T (p.Gly120=) rs375438732 0.00043
NM_017780.4(CHD7):c.2751G>A (p.Thr917=) rs369429961 0.00040
NM_017780.4(CHD7):c.6216C>G (p.Pro2072=) rs199828744 0.00036
NM_017780.4(CHD7):c.8047C>T (p.Pro2683Ser) rs201319489 0.00035
NM_017780.4(CHD7):c.2185A>G (p.Lys729Glu) rs41272437 0.00034
NM_017780.4(CHD7):c.1188G>T (p.Met396Ile) rs201653177 0.00033
NM_017780.4(CHD7):c.4437G>A (p.Gly1479=) rs41265246 0.00029
NM_017780.4(CHD7):c.8672A>G (p.Asn2891Ser) rs202039728 0.00029
NM_017780.4(CHD7):c.6711C>T (p.Ser2237=) rs370385319 0.00023
NM_017780.4(CHD7):c.5848G>A (p.Ala1950Thr) rs201423234 0.00022
NM_017780.4(CHD7):c.6822T>C (p.Ala2274=) rs61743849 0.00021
NM_017780.4(CHD7):c.7085G>A (p.Ser2362Asn) rs139876661 0.00021
NM_017780.4(CHD7):c.8190G>A (p.Ala2730=) rs371898908 0.00019
NM_017780.4(CHD7):c.8366C>T (p.Ala2789Val) rs376934539 0.00019
NM_017780.4(CHD7):c.6103+6T>C rs371509438 0.00017
NM_017780.4(CHD7):c.6247C>T (p.Pro2083Ser) rs370972259 0.00017
NM_017780.4(CHD7):c.1046A>G (p.Asn349Ser) rs200644351 0.00016
NM_017780.4(CHD7):c.4851T>C (p.Gly1617=) rs181927766 0.00016
NM_017780.4(CHD7):c.6513C>T (p.Ala2171=) rs376020564 0.00015
NM_017780.4(CHD7):c.8446T>C (p.Leu2816=) rs375204972 0.00015
NM_017780.4(CHD7):c.240G>A (p.Met80Ile) rs199675125 0.00013
NM_017780.4(CHD7):c.277A>G (p.Thr93Ala) rs398124317 0.00013
NM_017780.4(CHD7):c.3973T>C (p.Tyr1325His) rs377535841 0.00013
NM_017780.4(CHD7):c.5310T>C (p.Asp1770=) rs377723386 0.00012
NM_017780.4(CHD7):c.8193C>T (p.Ala2731=) rs534427466 0.00012
NM_017780.4(CHD7):c.6682G>A (p.Gly2228Arg) rs200907656 0.00010
NM_017780.4(CHD7):c.2194C>G (p.Pro732Ala) rs200277422 0.00008
NM_017780.4(CHD7):c.3241A>G (p.Ile1081Val) rs768184220 0.00008
NM_017780.4(CHD7):c.5439C>T (p.Pro1813=) rs373869399 0.00008
NM_017780.4(CHD7):c.331C>T (p.Pro111Ser) rs147164392 0.00007
NM_017780.4(CHD7):c.5496G>A (p.Glu1832=) rs766542090 0.00007
NM_017780.4(CHD7):c.2680A>G (p.Thr894Ala) rs377662366 0.00006
NM_017780.4(CHD7):c.4534-20C>T rs727503866 0.00006
NM_017780.4(CHD7):c.5275A>C (p.Lys1759Gln) rs371988345 0.00006
NM_017780.4(CHD7):c.90G>A (p.Pro30=) rs374464240 0.00006
NM_017780.4(CHD7):c.911T>C (p.Ile304Thr) rs537091457 0.00006
NM_017780.4(CHD7):c.1104C>T (p.His368=) rs763250461 0.00005
NM_017780.4(CHD7):c.2960G>A (p.Arg987Gln) rs767390470 0.00005
NM_017780.4(CHD7):c.3366G>C (p.Lys1122Asn) rs41272440 0.00005
NM_017780.4(CHD7):c.5105G>A (p.Ser1702Asn) rs370599133 0.00005
NM_017780.4(CHD7):c.1170T>C (p.Tyr390=) rs554737227 0.00004
NM_017780.4(CHD7):c.4877C>T (p.Ser1626Phe) rs369608927 0.00004
NM_017780.4(CHD7):c.5115G>A (p.Pro1705=) rs191081055 0.00004
NM_017780.4(CHD7):c.5697C>G (p.Gly1899=) rs528130317 0.00004
NM_017780.4(CHD7):c.6571G>A (p.Glu2191Lys) rs727503867 0.00004
NM_017780.4(CHD7):c.7463G>A (p.Gly2488Asp) rs398124324 0.00004
NM_017780.4(CHD7):c.7848G>A (p.Leu2616=) rs188188906 0.00004
NM_017780.4(CHD7):c.8639C>T (p.Pro2880Leu) rs113938624 0.00004
NM_017780.4(CHD7):c.1644G>A (p.Pro548=) rs748842029 0.00003
NM_017780.4(CHD7):c.2614-7G>T rs762399977 0.00003
NM_017780.4(CHD7):c.272G>A (p.Ser91Asn) rs794727294 0.00003
NM_017780.4(CHD7):c.5824C>T (p.Arg1942Trp) rs200441929 0.00003
NM_017780.4(CHD7):c.6771C>T (p.Pro2257=) rs367615733 0.00003
NM_017780.4(CHD7):c.2945A>G (p.Asn982Ser) rs886044146 0.00002
NM_017780.4(CHD7):c.3487A>G (p.Met1163Val) rs886044534 0.00002
NM_017780.4(CHD7):c.500C>T (p.Pro167Leu) rs61742851 0.00002
NM_017780.4(CHD7):c.7346G>C (p.Arg2449Thr) rs727503870 0.00002
NM_017780.4(CHD7):c.8821A>G (p.Lys2941Glu) rs201793562 0.00002
NM_017780.4(CHD7):c.1327A>G (p.Met443Val) rs559364802 0.00001
NM_017780.4(CHD7):c.156A>G (p.Pro52=) rs398124315 0.00001
NM_017780.4(CHD7):c.2238+6A>G rs886042205 0.00001
NM_017780.4(CHD7):c.323C>A (p.Pro108His) rs369818702 0.00001
NM_017780.4(CHD7):c.3463C>T (p.Arg1155Cys) rs201769233 0.00001
NM_017780.4(CHD7):c.3712G>A (p.Val1238Ile) rs794727150 0.00001
NM_017780.4(CHD7):c.5828G>A (p.Arg1943Gln) rs753723769 0.00001
NM_017780.4(CHD7):c.6437T>C (p.Leu2146Pro) rs794727554 0.00001
NM_017780.4(CHD7):c.6747T>A (p.Asp2249Glu) rs751843304 0.00001
NM_017780.4(CHD7):c.7257T>C (p.Asn2419=) rs886042294 0.00001
NM_017780.4(CHD7):c.768C>T (p.Phe256=) rs727503859 0.00001
NM_017780.4(CHD7):c.8556C>T (p.Asp2852=) rs794727604 0.00001
NM_017780.4(CHD7):c.1090C>T (p.Gln364Ter) rs727503860
NM_017780.4(CHD7):c.1224_1234del (p.Pro409fs) rs794727295
NM_017780.4(CHD7):c.1369C>T (p.Gln457Ter) rs727503861
NM_017780.4(CHD7):c.1465C>T (p.Gln489Ter) rs794727298
NM_017780.4(CHD7):c.1499A>G (p.Gln500Arg) rs1465792260
NM_017780.4(CHD7):c.1534C>G (p.Pro512Ala) rs748635676
NM_017780.4(CHD7):c.2377-3dup rs752271550
NM_017780.4(CHD7):c.2839C>T (p.Arg947Ter) rs200220845
NM_017780.4(CHD7):c.2848del (p.Ala950fs) rs886043750
NM_017780.4(CHD7):c.2933G>A (p.Trp978Ter) rs727503863
NM_017780.4(CHD7):c.3082A>G (p.Ile1028Val) rs121434338
NM_017780.4(CHD7):c.380del (p.Pro127fs) rs886043945
NM_017780.4(CHD7):c.3868G>C (p.Gly1290Arg) rs398124318
NM_017780.4(CHD7):c.3949C>T (p.Arg1317Cys) rs373301291
NM_017780.4(CHD7):c.4015C>T (p.Arg1339Ter) rs1563644066
NM_017780.4(CHD7):c.4137T>C (p.Asp1379=) rs794727194
NM_017780.4(CHD7):c.4379_4380del (p.Ile1460fs) rs398124319
NM_017780.4(CHD7):c.469C>T (p.Arg157Ter) rs794727293
NM_017780.4(CHD7):c.4793C>G (p.Ser1598Ter) rs1563649180
NM_017780.4(CHD7):c.499C>A (p.Pro167Thr) rs1563559947
NM_017780.4(CHD7):c.5181C>G (p.Tyr1727Ter) rs398124320
NM_017780.4(CHD7):c.535G>A (p.Ala179Thr) rs794727296
NM_017780.4(CHD7):c.5405-17G>A rs794727423
NM_017780.4(CHD7):c.5405-7G>A rs398124321
NM_017780.4(CHD7):c.5895-1G>C rs398124322
NM_017780.4(CHD7):c.5971C>T (p.Gln1991Ter) rs1563659730
NM_017780.4(CHD7):c.5973A>G (p.Gln1991=) rs768313777
NM_017780.4(CHD7):c.6148C>T (p.Arg2050Ter) rs886040996
NM_017780.4(CHD7):c.6308G>A (p.Gly2103Asp) rs794727555
NM_017780.4(CHD7):c.6529G>T (p.Glu2177Ter) rs750047137
NM_017780.4(CHD7):c.656G>A (p.Gly219Asp) rs794727297
NM_017780.4(CHD7):c.6995G>A (p.Trp2332Ter) rs794727569
NM_017780.4(CHD7):c.7145dup (p.Ser2383fs) rs786200969
NM_017780.4(CHD7):c.7447G>A (p.Glu2483Lys) rs398124323
NM_017780.4(CHD7):c.7641_7651del (p.Glu2547fs) rs886042312
NM_017780.4(CHD7):c.8076+8C>A rs1554606381
NM_017780.4(CHD7):c.8105G>A (p.Arg2702His) rs1563673267
NM_017780.4(CHD7):c.8453_8463dup (p.Ala2822fs) rs797044725
NM_017780.4(CHD7):c.8672A>C (p.Asn2891Thr) rs202039728

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