ClinVar Miner

List of variants in gene CHD7 reported as benign for not provided

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Gene type:
ClinVar version:
Total variants: 165
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HGVS dbSNP gnomAD frequency
NM_017780.4(CHD7):c.2442+93A>G rs10448027 0.84035
NM_017780.4(CHD7):c.2238+39G>A rs4540437 0.83608
NM_017780.4(CHD7):c.3779-217G>A rs6471905 0.82328
NM_017780.4(CHD7):c.2614-45A>G rs6471902 0.79408
NM_017780.4(CHD7):c.4186-225A>G rs11986059 0.77691
NM_017780.4(CHD7):c.4533+46A>G rs7844902 0.77651
NM_017780.4(CHD7):c.5210+286G>A rs10957162 0.77594
NM_017780.4(CHD7):c.2376+43_2376+48dup rs5891777 0.76905
NM_017780.4(CHD7):c.3989+51C>A rs7005873 0.76795
NM_017780.4(CHD7):c.1665+34G>A rs7836586 0.76770
NM_017780.4(CHD7):c.2613+213T>G rs4737565 0.73414
NM_017780.4(CHD7):c.5665+198A>G rs4342642 0.68138
NM_017780.4(CHD7):c.6936+308G>C rs7839701 0.67922
NM_017780.4(CHD7):c.5666-189G>T rs3763591 0.62204
NM_017780.4(CHD7):c.7609-178C>T rs10094382 0.45245
NM_017780.4(CHD7):c.8076+163_8076+166dup rs75748074 0.45126
NM_017780.4(CHD7):c.2698-54A>G rs4509369 0.36787
NM_017780.4(CHD7):c.2499-268C>G rs368460945 0.35386
NM_017780.4(CHD7):c.2376+147C>A rs3890803 0.33902
NM_017780.4(CHD7):c.2239-332A>T rs10957160 0.25775
NM_017780.4(CHD7):c.4185+90G>C rs67670110 0.19417
NM_017780.4(CHD7):c.6103+8C>T rs3763592 0.14641
NM_017780.4(CHD7):c.2499-258C>G rs200026248 0.14632
NM_017780.4(CHD7):c.7609-227C>T rs35951521 0.13220
NM_017780.4(CHD7):c.6276G>A (p.Glu2092=) rs2068096 0.12528
NM_017780.4(CHD7):c.3378+208A>G rs28539276 0.07467
NM_017780.4(CHD7):c.2958-106C>T rs28539174 0.07458
NM_017780.4(CHD7):c.5535-68T>C rs73254571 0.06823
NM_017780.4(CHD7):c.3523-35C>G rs41272442 0.06176
NM_017780.4(CHD7):c.7356A>G (p.Thr2452=) rs2272727 0.04082
NM_017780.4(CHD7):c.-174-212C>A rs17825594 0.04073
NM_017780.4(CHD7):c.6135G>A (p.Pro2045=) rs6999971 0.03071
NM_017780.4(CHD7):c.2442+38A>T rs41272438 0.02567
NM_017780.4(CHD7):c.-174-222T>C rs16926450 0.02516
NM_017780.4(CHD7):c.4534-294C>T rs62526528 0.02421
NM_017780.4(CHD7):c.4850+102C>T rs75650362 0.01973
NM_017780.4(CHD7):c.2499-256C>G rs867185114 0.01949
NM_017780.4(CHD7):c.2124T>C (p.Ser708=) rs79302359 0.01911
NM_017780.4(CHD7):c.2097-199G>A rs77947624 0.01910
NM_017780.4(CHD7):c.5307C>T (p.Ala1769=) rs16926499 0.01905
NM_017780.4(CHD7):c.8076+147C>A rs542520736 0.01838
NM_017780.4(CHD7):c.6738G>A (p.Glu2246=) rs61729627 0.01533
NM_017780.4(CHD7):c.7608+68G>A rs115002476 0.01533
NM_017780.4(CHD7):c.3990-81G>T rs41304212 0.01532
NM_017780.4(CHD7):c.7609-57C>A rs77809919 0.01477
NM_017780.4(CHD7):c.307T>A (p.Ser103Thr) rs41272435 0.01358
NM_017780.4(CHD7):c.2498+70T>A rs74898457 0.01350
NM_017780.4(CHD7):c.3523-67A>G rs141939815 0.01313
NM_017780.4(CHD7):c.4534-13T>G rs114996731 0.01094
NM_017780.4(CHD7):c.4354-104A>G rs76518681 0.01078
NM_017780.4(CHD7):c.6776-237G>C rs117049687 0.00911
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.1665+130T>C rs151044908 0.00596
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.3379-33A>G rs45461501 0.00473
NM_017780.4(CHD7):c.2230G>A (p.Gly744Ser) rs141947938 0.00470
NM_017780.4(CHD7):c.2239-109G>A rs569349271 0.00419
NM_017780.4(CHD7):c.5210+129G>C rs191527057 0.00411
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.5210+115A>G rs143898806 0.00299
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.5895-78G>A rs145798437 0.00229
NM_017780.4(CHD7):c.8790C>T (p.Ala2930=) rs61736186 0.00229
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.2614-161A>C rs11782077 0.00186
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.4644+36C>T rs71640287 0.00161
NM_017780.4(CHD7):c.5757C>G (p.Ala1919=) rs79203206 0.00160
NM_017780.4(CHD7):c.5051-25A>G rs185141793 0.00153
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.3522+13T>A rs199581494 0.00126
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.6989G>C (p.Gly2330Ala) rs77704609 0.00094
NM_017780.4(CHD7):c.6990C>T (p.Gly2330=) rs559382275 0.00094
NM_017780.4(CHD7):c.2436A>T (p.Lys812Asn) rs61978638 0.00083
NM_017780.4(CHD7):c.2835+24A>T rs201381395 0.00081
NM_017780.4(CHD7):c.5404+41C>T rs190298202 0.00078
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.2829G>A (p.Glu943=) rs374877439 0.00051
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.2831G>A (p.Arg944His) rs117506164 0.00030
NM_017780.4(CHD7):c.6483T>A (p.His2161Gln) rs185505138 0.00030
NM_017780.4(CHD7):c.8672A>G (p.Asn2891Ser) rs202039728 0.00029
NM_017780.4(CHD7):c.444G>A (p.Arg148=) rs376455384 0.00028
NM_017780.4(CHD7):c.6822T>C (p.Ala2274=) rs61743849 0.00021
NM_017780.4(CHD7):c.8740G>A (p.Gly2914Arg) rs187751757 0.00019
NM_017780.4(CHD7):c.6103+6T>C rs371509438 0.00017
NM_017780.4(CHD7):c.4851T>C (p.Gly1617=) rs181927766 0.00016
NM_017780.4(CHD7):c.1326C>A (p.Ala442=) rs370097651 0.00014
NM_017780.4(CHD7):c.4851-31C>T rs149348445 0.00013
NM_017780.4(CHD7):c.1203A>G (p.Ala401=) rs147960212 0.00012
NM_017780.4(CHD7):c.4850+33T>C rs369422783 0.00011
NM_017780.4(CHD7):c.3201+21T>G rs575169079 0.00010
NM_017780.4(CHD7):c.1375C>T (p.Arg459Cys) rs753953205 0.00009
NM_017780.4(CHD7):c.127A>G (p.Ile43Val) rs201542180 0.00008
NM_017780.4(CHD7):c.3989+34A>G rs189935708 0.00008
NM_017780.4(CHD7):c.5439C>T (p.Pro1813=) rs373869399 0.00008
NM_017780.4(CHD7):c.8250T>G (p.Phe2750Leu) rs3750308 0.00008
NM_017780.4(CHD7):c.90G>A (p.Pro30=) rs374464240 0.00006
NM_017780.4(CHD7):c.5745G>A (p.Arg1915=) rs376993840 0.00005
NM_017780.4(CHD7):c.2498+12G>T rs557099951 0.00004
NM_017780.4(CHD7):c.3613A>G (p.Ile1205Val) rs751726519 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.7848G>A (p.Leu2616=) rs188188906 0.00004
NM_017780.4(CHD7):c.6468C>T (p.Val2156=) rs777858802 0.00003
NM_017780.4(CHD7):c.6529G>A (p.Glu2177Lys) rs750047137 0.00003
NM_017780.4(CHD7):c.6771C>T (p.Pro2257=) rs367615733 0.00003
NM_017780.4(CHD7):c.4185+46C>T rs758212430 0.00002
NM_017780.4(CHD7):c.8759G>C (p.Gly2920Ala) rs769008751 0.00002
NM_017780.4(CHD7):c.5689G>A (p.Glu1897Lys) rs766110936 0.00001
NM_017780.4(CHD7):c.6080G>A (p.Arg2027Gln) rs372077201 0.00001
NM_017780.4(CHD7):c.7485G>T (p.Arg2495Ser) rs547209998 0.00001
GRCh37/hg19 8q12.2(chr8:61656947-61670975)x1
GRCh37/hg19 8q12.2(chr8:61667280-61671071)x3
GRCh37/hg19 8q12.2(chr8:61667427-61670975)x4
GRCh37/hg19 8q12.2(chr8:61668289-61670975)x4
GRCh37/hg19 8q12.2(chr8:61704817-61732518)x3
GRCh37/hg19 8q12.2(chr8:61704817-61734962)x3
NM_017780.4(CHD7):c.*127del rs11322994
NM_017780.4(CHD7):c.2377-3dup rs752271550
NM_017780.4(CHD7):c.2499-270C>G rs7823623
NM_017780.4(CHD7):c.2499-291TGTC[6] rs749460189
NM_017780.4(CHD7):c.2613+93T>C rs1007714458
NM_017780.4(CHD7):c.2698-146AT[3] rs139974846
NM_017780.4(CHD7):c.2698-245TA[4] rs138906255
NM_017780.4(CHD7):c.3990-59del rs112949179
NM_017780.4(CHD7):c.3990-59dup rs112949179
NM_017780.4(CHD7):c.4850+76A>G rs79240930
NM_017780.4(CHD7):c.5210+57dup rs143263433
NM_017780.4(CHD7):c.5211-18C>T rs749368541
NM_017780.4(CHD7):c.5405-176C>G rs77454387
NM_017780.4(CHD7):c.5894+102C>G rs118161607
NM_017780.4(CHD7):c.6924G>A (p.Ser2308=) rs61733338
NM_017780.4(CHD7):c.6989_6990delinsCT (p.Gly2330Ala) rs1554604771
NM_017780.4(CHD7):c.8076+146del rs199514805
NM_017780.4(CHD7):c.8076+163_8076+164insATCA rs71844748
NM_017780.4(CHD7):c.8076+168_8076+169insTCTTACATCAATACATCATT rs71245526
NM_017780.4(CHD7):c.8077-60T>A rs539809651
NM_017780.4(CHD7):c.8477A>G (p.Asn2826Ser) rs370129047
NM_017780.4(CHD7):c.8488G>A (p.Ala2830Thr) rs533600930
NM_017780.4(CHD7):c.8879_8880insAGA (p.Glu2960dup) rs2129771691

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