ClinVar Miner

List of variants in gene CHD7 reported as uncertain significance for abdominal and pelvic region disorder

Included ClinVar conditions (913):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 234
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HGVS dbSNP
NM_017780.4(CHD7):c.*1469G>T rs886063051
NM_017780.4(CHD7):c.*1577C>G rs886063052
NM_017780.4(CHD7):c.*1644A>G rs886063053
NM_017780.4(CHD7):c.*1663_*1664AG[1] rs761460675
NM_017780.4(CHD7):c.*1698T>G rs544498983
NM_017780.4(CHD7):c.*1788C>T rs527801100
NM_017780.4(CHD7):c.*1832A>G rs886063055
NM_017780.4(CHD7):c.*19C>A rs371417969
NM_017780.4(CHD7):c.*251T>C rs529121143
NM_017780.4(CHD7):c.*293G>C rs886063044
NM_017780.4(CHD7):c.*338del rs886063045
NM_017780.4(CHD7):c.*505C>T rs886063046
NM_017780.4(CHD7):c.*622G>A rs886063047
NM_017780.4(CHD7):c.*659T>C rs886063048
NM_017780.4(CHD7):c.*731G>A rs886063049
NM_017780.4(CHD7):c.*839A>G rs886063050
NM_017780.4(CHD7):c.*965G>A rs575515698
NM_017780.4(CHD7):c.-230G>C rs886063030
NM_017780.4(CHD7):c.-249C>G rs886063029
NM_017780.4(CHD7):c.-298C>A rs886063028
NM_017780.4(CHD7):c.-327C>G rs531113504
NM_017780.4(CHD7):c.-465_-463GCG[8] rs71245513
NM_017780.4(CHD7):c.-466A>G rs71513464
NM_017780.4(CHD7):c.-466_-461del rs886063025
NM_017780.4(CHD7):c.-466delinsGGCGGCAGCG rs886063026
NM_017780.4(CHD7):c.-466delinsGGCGGCGGCG rs886063026
NM_017780.4(CHD7):c.-466delinsGGCGGCGGCGGCAGCG rs886063026
NM_017780.4(CHD7):c.-466delinsGGCGGCGGCGGCG rs886063026
NM_017780.4(CHD7):c.-466delinsGGCGGCGGCGGCGGCGGCG rs886063026
NM_017780.4(CHD7):c.-466delinsGGCGGCGGCGGCGGCGGCGGCG rs886063026
NM_017780.4(CHD7):c.-466delinsGGCGGCGGCGGCGGCGGCGGCGGCG rs886063026
NM_017780.4(CHD7):c.-467_-466insGGCAGC rs1554568913
NM_017780.4(CHD7):c.-469G>A rs868087197
NM_017780.4(CHD7):c.-472G>A rs865775134
NM_017780.4(CHD7):c.-481G>A rs886063024
NM_017780.4(CHD7):c.-490_-488GGC[10] rs886063023
NM_017780.4(CHD7):c.-490_-488GGC[9] rs886063023
NM_017780.4(CHD7):c.1006A>G (p.Asn336Asp) rs886040979
NM_017780.4(CHD7):c.1030G>A (p.Val344Ile) rs199919181
NM_017780.4(CHD7):c.1046A>G (p.Asn349Ser) rs200644351
NM_017780.4(CHD7):c.1175C>T (p.Ser392Phe)
NM_017780.4(CHD7):c.1188G>T (p.Met396Ile) rs201653177
NM_017780.4(CHD7):c.1193C>A (p.Pro398His)
NM_017780.4(CHD7):c.1243C>T (p.Pro415Ser)
NM_017780.4(CHD7):c.1375C>T (p.Arg459Cys)
NM_017780.4(CHD7):c.1397C>T (p.Ser466Leu) rs71640285
NM_017780.4(CHD7):c.13G>C (p.Gly5Arg) rs886063031
NM_017780.4(CHD7):c.1423A>T (p.Met475Leu) rs773039925
NM_017780.4(CHD7):c.1512A>G (p.Gln504=) rs587783430
NM_017780.4(CHD7):c.1554G>C (p.Gln518His)
NM_017780.4(CHD7):c.1566C>T (p.Gly522=) rs759347960
NM_017780.4(CHD7):c.1622A>G (p.His541Arg)
NM_017780.4(CHD7):c.1657G>T (p.Val553Leu)
NM_017780.4(CHD7):c.1672C>G (p.Pro558Ala)
NM_017780.4(CHD7):c.1703C>T (p.Pro568Leu)
NM_017780.4(CHD7):c.1727C>T (p.Pro576Leu) rs746633621
NM_017780.4(CHD7):c.1768A>G (p.Ile590Val)
NM_017780.4(CHD7):c.1791_1793GAA[2] (p.Lys602del) rs757119372
NM_017780.4(CHD7):c.1802A>G (p.Lys601Arg)
NM_017780.4(CHD7):c.1812C>A (p.Asn604Lys) rs764607908
NM_017780.4(CHD7):c.1908G>A (p.Gly636=) rs923306494
NM_017780.4(CHD7):c.1921A>G (p.Lys641Glu)
NM_017780.4(CHD7):c.1977C>T (p.Pro659=) rs886063034
NM_017780.4(CHD7):c.2012C>T (p.Pro671Leu) rs370588681
NM_017780.4(CHD7):c.202C>T (p.His68Tyr) rs886063032
NM_017780.4(CHD7):c.2062G>A (p.Ala688Thr) rs1187193827
NM_017780.4(CHD7):c.2066C>T (p.Thr689Met) rs373706363
NM_017780.4(CHD7):c.2096G>A (p.Ser699Asn) rs1563595388
NM_017780.4(CHD7):c.2147_2148delinsTT (p.Lys716Ile) rs1563606900
NM_017780.4(CHD7):c.216T>C (p.Tyr72=) rs16926453
NM_017780.4(CHD7):c.2189C>T (p.Thr730Ile) rs552946889
NM_017780.4(CHD7):c.2238+12A>G rs752854030
NM_017780.4(CHD7):c.2360C>T (p.Ser787Phe) rs1331824961
NM_017780.4(CHD7):c.2375A>G (p.Gln792Arg)
NM_017780.4(CHD7):c.2376+4A>G rs864622519
NM_017780.4(CHD7):c.2436A>T (p.Lys812Asn) rs61978638
NM_017780.4(CHD7):c.2613+4C>T rs779615403
NM_017780.4(CHD7):c.2726_2728del (p.Cys909del) rs1554597381
NM_017780.4(CHD7):c.277A>G (p.Thr93Ala) rs398124317
NM_017780.4(CHD7):c.2787C>T (p.Ile929=) rs771367272
NM_017780.4(CHD7):c.2820G>A (p.Pro940=) rs539734440
NM_017780.4(CHD7):c.2824A>G (p.Thr942Ala) rs370194460
NM_017780.4(CHD7):c.2830C>A (p.Arg944Ser) rs587783435
NM_017780.4(CHD7):c.2840G>A (p.Arg947Gln) rs768481542
NM_017780.4(CHD7):c.2880G>T (p.Arg960Ser) rs1554597489
NM_017780.4(CHD7):c.2905A>G (p.Arg969Gly) rs1554597501
NM_017780.4(CHD7):c.295G>C (p.Ala99Pro) rs779024959
NM_017780.4(CHD7):c.2986G>A (p.Gly996Ser) rs1554597672
NM_017780.4(CHD7):c.3030A>G (p.Ile1010Met) rs1206578296
NM_017780.4(CHD7):c.3047A>G (p.His1016Arg)
NM_017780.4(CHD7):c.3064A>G (p.Ile1022Val) rs767043440
NM_017780.4(CHD7):c.3089A>C (p.Asn1030Thr) rs886041167
NM_017780.4(CHD7):c.3201+3A>T rs587783437
NM_017780.4(CHD7):c.3222C>T (p.Ser1074=) rs199675568
NM_017780.4(CHD7):c.323C>A (p.Pro108His) rs369818702
NM_017780.4(CHD7):c.3299G>A (p.Arg1100His) rs767259131
NM_017780.4(CHD7):c.3347A>G (p.Lys1116Arg) rs750214154
NM_017780.4(CHD7):c.3366G>C (p.Lys1122Asn) rs41272440
NM_017780.4(CHD7):c.3379-9T>A
NM_017780.4(CHD7):c.3463C>T (p.Arg1155Cys) rs201769233
NM_017780.4(CHD7):c.3613A>G (p.Ile1205Val) rs751726519
NM_017780.4(CHD7):c.361G>A (p.Gly121Ser) rs587783439
NM_017780.4(CHD7):c.3710A>T (p.Asn1237Ile)
NM_017780.4(CHD7):c.3779-10A>G rs886063035
NM_017780.4(CHD7):c.3835G>A (p.Asp1279Asn) rs864622150
NM_017780.4(CHD7):c.3851C>T (p.Ala1284Val)
NM_017780.4(CHD7):c.3949C>T (p.Arg1317Cys) rs373301291
NM_017780.4(CHD7):c.3973T>C (p.Tyr1325His) rs377535841
NM_017780.4(CHD7):c.3988C>T (p.Arg1330Trp) rs369542138
NM_017780.4(CHD7):c.3989G>A (p.Arg1330Gln) rs1060503186
NM_017780.4(CHD7):c.4033C>T (p.Arg1345Cys) rs1563644113
NM_017780.4(CHD7):c.4075A>T (p.Arg1359Trp)
NM_017780.4(CHD7):c.444G>A (p.Arg148=) rs376455384
NM_017780.4(CHD7):c.4534-13T>G rs114996731
NM_017780.4(CHD7):c.4541T>G (p.Phe1514Cys) rs1554601592
NM_017780.4(CHD7):c.4639G>C (p.Gly1547Arg) rs1563648680
NM_017780.4(CHD7):c.4645-9T>C rs766575601
NM_017780.4(CHD7):c.4760C>T (p.Pro1587Leu) rs587783444
NM_017780.4(CHD7):c.4778G>A (p.Arg1593His) rs766632082
NM_017780.4(CHD7):c.4811G>C (p.Ser1604Thr) rs367722051
NM_017780.4(CHD7):c.482A>G (p.Gln161Arg) rs755340969
NM_017780.4(CHD7):c.4846T>C (p.Tyr1616His)
NM_017780.4(CHD7):c.4849G>A (p.Gly1617Ser) rs886040993
NM_017780.4(CHD7):c.4903A>G (p.Thr1635Ala) rs372587744
NM_017780.4(CHD7):c.503A>G (p.Gln168Arg)
NM_017780.4(CHD7):c.509C>T (p.Pro170Leu)
NM_017780.4(CHD7):c.5131G>A (p.Asp1711Asn)
NM_017780.4(CHD7):c.5211-11T>G rs886063036
NM_017780.4(CHD7):c.5243T>C (p.Leu1748Pro)
NM_017780.4(CHD7):c.524C>T (p.Ser175Leu) rs370305211
NM_017780.4(CHD7):c.5270C>T (p.Ala1757Val)
NM_017780.4(CHD7):c.5309A>G (p.Asp1770Gly) rs766488157
NM_017780.4(CHD7):c.532C>G (p.Pro178Ala)
NM_017780.4(CHD7):c.5343T>C (p.Val1781=) rs886063037
NM_017780.4(CHD7):c.5371G>A (p.Asp1791Asn) rs1554603283
NM_017780.4(CHD7):c.5390G>C (p.Gly1797Ala) rs780597592
NM_017780.4(CHD7):c.5440G>A (p.Ala1814Thr) rs368609862
NM_017780.4(CHD7):c.5446T>A (p.Cys1816Ser) rs1563657431
NM_017780.4(CHD7):c.5459G>A (p.Arg1820Gln) rs372644599
NM_017780.4(CHD7):c.5588C>A (p.Pro1863Gln)
NM_017780.4(CHD7):c.5633A>G (p.Asp1878Gly) rs749861487
NM_017780.4(CHD7):c.5722A>C (p.Thr1908Pro) rs1329534393
NM_017780.4(CHD7):c.5759A>G (p.Tyr1920Cys) rs768950252
NM_017780.4(CHD7):c.575A>G (p.Tyr192Cys) rs749792505
NM_017780.4(CHD7):c.577A>G (p.Met193Val)
NM_017780.4(CHD7):c.5824C>T (p.Arg1942Trp) rs200441929
NM_017780.4(CHD7):c.5848G>A (p.Ala1950Thr) rs201423234
NM_017780.4(CHD7):c.5859G>A (p.Ala1953=) rs587783449
NM_017780.4(CHD7):c.608A>G (p.His203Arg)
NM_017780.4(CHD7):c.6098A>G (p.Asp2033Gly)
NM_017780.4(CHD7):c.6112G>A (p.Asp2038Asn) rs747846723
NM_017780.4(CHD7):c.6184C>T (p.Arg2062Trp) rs886063038
NM_017780.4(CHD7):c.6195C>T (p.Arg2065=)
NM_017780.4(CHD7):c.6236A>C (p.Lys2079Thr)
NM_017780.4(CHD7):c.6250A>G (p.Ser2084Gly) rs201083157
NM_017780.4(CHD7):c.6255G>T (p.Leu2085Phe) rs561398606
NM_017780.4(CHD7):c.6278G>A (p.Cys2093Tyr) rs766776212
NM_017780.4(CHD7):c.6304G>T (p.Val2102Phe) rs753559567
NM_017780.4(CHD7):c.6308G>A (p.Gly2103Asp) rs794727555
NM_017780.4(CHD7):c.6321C>T (p.His2107=) rs778800676
NM_017780.4(CHD7):c.6353A>G (p.Asn2118Ser) rs199614124
NM_017780.4(CHD7):c.6356A>G (p.Asp2119Gly) rs587783452
NM_017780.4(CHD7):c.6407G>A (p.Gly2136Glu) rs1563660814
NM_017780.4(CHD7):c.6469A>G (p.Ile2157Val) rs886063039
NM_017780.4(CHD7):c.6513C>T (p.Ala2171=) rs376020564
NM_017780.4(CHD7):c.657C>T (p.Gly219=) rs113483301
NM_017780.4(CHD7):c.6598G>A (p.Gly2200Arg)
NM_017780.4(CHD7):c.6673G>A (p.Ala2225Thr)
NM_017780.4(CHD7):c.676T>C (p.Phe226Leu) rs1294102203
NM_017780.4(CHD7):c.6775+6G>T rs773804340
NM_017780.4(CHD7):c.6775G>A (p.Ala2259Thr) rs200806228
NM_017780.4(CHD7):c.6793G>A (p.Gly2265Arg)
NM_017780.4(CHD7):c.6936+6C>T rs762730711
NM_017780.4(CHD7):c.6965A>G (p.Asn2322Ser)
NM_017780.4(CHD7):c.7015A>G (p.Met2339Val) rs1184188163
NM_017780.4(CHD7):c.7018T>C (p.Phe2340Leu)
NM_017780.4(CHD7):c.702C>G (p.His234Gln)
NM_017780.4(CHD7):c.7043G>A (p.Gly2348Asp)
NM_017780.4(CHD7):c.7044T>G (p.Gly2348=) rs886063040
NM_017780.4(CHD7):c.7082G>A (p.Arg2361Lys) rs777753993
NM_017780.4(CHD7):c.7085G>A (p.Ser2362Asn) rs139876661
NM_017780.4(CHD7):c.7097T>C (p.Leu2366Pro)
NM_017780.4(CHD7):c.7107C>A (p.Val2369=) rs773674773
NM_017780.4(CHD7):c.7108G>A (p.Gly2370Ser) rs185940313
NM_017780.4(CHD7):c.7120A>G (p.Ile2374Val)
NM_017780.4(CHD7):c.712G>A (p.Val238Met) rs200898742
NM_017780.4(CHD7):c.7170T>G (p.Asp2390Glu)
NM_017780.4(CHD7):c.7179C>A (p.Asn2393Lys) rs753446252
NM_017780.4(CHD7):c.7199G>A (p.Arg2400Gln) rs534510177
NM_017780.4(CHD7):c.7297G>A (p.Val2433Ile)
NM_017780.4(CHD7):c.7411T>C (p.Ser2471Pro) rs769178123
NM_017780.4(CHD7):c.7414A>G (p.Thr2472Ala)
NM_017780.4(CHD7):c.7481C>T (p.Thr2494Ile) rs201514840
NM_017780.4(CHD7):c.7537C>T (p.Arg2513Trp)
NM_017780.4(CHD7):c.7551A>G (p.Lys2517=) rs202020722
NM_017780.4(CHD7):c.755C>T (p.Ser252Leu) rs371930390
NM_017780.4(CHD7):c.7590A>G (p.Lys2530=) rs61742801
NM_017780.4(CHD7):c.7595C>T (p.Thr2532Met) rs201032343
NM_017780.4(CHD7):c.7673C>T (p.Pro2558Leu) rs776711005
NM_017780.4(CHD7):c.7702C>T (p.Arg2568Trp)
NM_017780.4(CHD7):c.7775T>C (p.Val2592Ala)
NM_017780.4(CHD7):c.7844T>C (p.Val2615Ala)
NM_017780.4(CHD7):c.7848G>A (p.Leu2616=) rs188188906
NM_017780.4(CHD7):c.7866A>C (p.Lys2622Asn)
NM_017780.4(CHD7):c.7952A>G (p.Asn2651Ser) rs780161032
NM_017780.4(CHD7):c.7971+6C>T
NM_017780.4(CHD7):c.805G>A (p.Val269Ile)
NM_017780.4(CHD7):c.8077-1G>C
NM_017780.4(CHD7):c.8077G>C (p.Gly2693Arg) rs1563673201
NM_017780.4(CHD7):c.8164A>G (p.Lys2722Glu)
NM_017780.4(CHD7):c.8213C>T (p.Thr2738Met) rs761409446
NM_017780.4(CHD7):c.8240A>G (p.Asn2747Ser)
NM_017780.4(CHD7):c.8278_8286AATCTCCAG[1] (p.2760_2762NLQ[1]) rs747665912
NM_017780.4(CHD7):c.8322C>G (p.Gly2774=) rs376063472
NM_017780.4(CHD7):c.8326C>T (p.Pro2776Ser) rs773045619
NM_017780.4(CHD7):c.8332G>A (p.Gly2778Arg)
NM_017780.4(CHD7):c.8364T>C (p.Asp2788=) rs886063041
NM_017780.4(CHD7):c.8366C>T (p.Ala2789Val) rs376934539
NM_017780.4(CHD7):c.8413G>A (p.Gly2805Ser)
NM_017780.4(CHD7):c.8440G>A (p.Gly2814Arg)
NM_017780.4(CHD7):c.8488G>A (p.Ala2830Thr) rs533600930
NM_017780.4(CHD7):c.8492C>G (p.Ser2831Cys) rs1399809223
NM_017780.4(CHD7):c.8580C>T (p.Ser2860=) rs767368987
NM_017780.4(CHD7):c.8610G>T (p.Ala2870=) rs375459176
NM_017780.4(CHD7):c.862C>A (p.Gln288Lys) rs1554581399
NM_017780.4(CHD7):c.8663T>C (p.Leu2888Pro)
NM_017780.4(CHD7):c.8672A>G (p.Asn2891Ser) rs202039728
NM_017780.4(CHD7):c.8774C>T (p.Ala2925Val) rs1563674763
NM_017780.4(CHD7):c.8786A>G (p.Asn2929Ser)
NM_017780.4(CHD7):c.8792T>C (p.Val2931Ala)
NM_017780.4(CHD7):c.8855C>G (p.Thr2952Ser) rs748655442
NM_017780.4(CHD7):c.892A>G (p.Thr298Ala) rs886063033
NM_017780.4(CHD7):c.8960_8962del (p.Gly2987del) rs771806027
NM_017780.4(CHD7):c.986A>G (p.Asn329Ser) rs777040556

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