ClinVar Miner

List of variants in gene CHD7 reported as uncertain significance by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 159
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HGVS dbSNP gnomAD frequency
NM_017780.4(CHD7):c.2835+8T>C rs202141372 0.00060
NM_017780.4(CHD7):c.6247C>T (p.Pro2083Ser) rs370972259 0.00017
NM_017780.4(CHD7):c.3988C>T (p.Arg1330Trp) rs369542138 0.00016
NM_017780.4(CHD7):c.2182G>C (p.Asp728His) rs756365280 0.00009
NM_017780.4(CHD7):c.608A>G (p.His203Arg) rs375277827 0.00009
NM_017780.4(CHD7):c.3241A>G (p.Ile1081Val) rs768184220 0.00008
NM_017780.4(CHD7):c.676T>C (p.Phe226Leu) rs1294102203 0.00008
NM_017780.4(CHD7):c.805G>A (p.Val269Ile) rs747972265 0.00007
NM_017780.4(CHD7):c.8692A>G (p.Met2898Val) rs755028719 0.00007
NM_017780.4(CHD7):c.5105G>A (p.Ser1702Asn) rs370599133 0.00005
NM_017780.4(CHD7):c.7082G>A (p.Arg2361Lys) rs777753993 0.00005
NM_017780.4(CHD7):c.748C>T (p.Arg250Cys) rs368934543 0.00005
NM_017780.4(CHD7):c.8356G>A (p.Gly2786Arg) rs765315726 0.00005
NM_017780.4(CHD7):c.2840G>A (p.Arg947Gln) rs768481542 0.00004
NM_017780.4(CHD7):c.4877C>T (p.Ser1626Phe) rs369608927 0.00004
NM_017780.4(CHD7):c.6088G>A (p.Val2030Ile) rs143796440 0.00004
NM_017780.4(CHD7):c.6248C>T (p.Pro2083Leu) rs773859400 0.00004
NM_017780.4(CHD7):c.7253G>A (p.Arg2418Gln) rs761410781 0.00004
NM_017780.4(CHD7):c.7463G>A (p.Gly2488Asp) rs398124324 0.00004
NM_017780.4(CHD7):c.7952A>G (p.Asn2651Ser) rs780161032 0.00004
NM_017780.4(CHD7):c.5824C>T (p.Arg1942Trp) rs200441929 0.00003
NM_017780.4(CHD7):c.8792T>C (p.Val2931Ala) rs754831415 0.00003
NM_017780.4(CHD7):c.2200T>C (p.Ser734Pro) rs760034081 0.00002
NM_017780.4(CHD7):c.2690G>A (p.Arg897Gln) rs773685788 0.00002
NM_017780.4(CHD7):c.296C>T (p.Ala99Val) rs772466277 0.00002
NM_017780.4(CHD7):c.3464G>A (p.Arg1155His) rs762669262 0.00002
NM_017780.4(CHD7):c.355G>T (p.Gly119Cys) rs764675280 0.00002
NM_017780.4(CHD7):c.4016G>A (p.Arg1339Gln) rs770876591 0.00002
NM_017780.4(CHD7):c.6167A>C (p.Tyr2056Ser) rs1189776580 0.00002
NM_017780.4(CHD7):c.7145C>T (p.Thr2382Met) rs189926848 0.00002
NM_017780.4(CHD7):c.7414A>G (p.Thr2472Ala) rs372546969 0.00002
NM_017780.4(CHD7):c.8507C>T (p.Pro2836Leu) rs925177812 0.00002
NM_017780.4(CHD7):c.8594C>T (p.Ser2865Leu) rs147534616 0.00002
NM_017780.4(CHD7):c.8605T>C (p.Ser2869Pro) rs778436403 0.00002
NM_017780.4(CHD7):c.8759G>C (p.Gly2920Ala) rs769008751 0.00002
NM_017780.4(CHD7):c.8821A>G (p.Lys2941Glu) rs201793562 0.00002
NM_017780.4(CHD7):c.1042C>A (p.Pro348Thr) rs747263275 0.00001
NM_017780.4(CHD7):c.1225C>T (p.Pro409Ser) rs1554581580 0.00001
NM_017780.4(CHD7):c.1622A>G (p.His541Arg) rs1388338640 0.00001
NM_017780.4(CHD7):c.2810C>G (p.Ser937Cys) rs775000989 0.00001
NM_017780.4(CHD7):c.289G>A (p.Gly97Arg) rs368160678 0.00001
NM_017780.4(CHD7):c.3023A>G (p.Tyr1008Cys) rs776900495 0.00001
NM_017780.4(CHD7):c.302C>T (p.Pro101Leu) rs769161426 0.00001
NM_017780.4(CHD7):c.3899C>A (p.Pro1300Gln) rs185150226 0.00001
NM_017780.4(CHD7):c.5429G>A (p.Arg1810Gln) rs755632561 0.00001
NM_017780.4(CHD7):c.5441C>T (p.Ala1814Val) rs1805407417 0.00001
NM_017780.4(CHD7):c.5459G>A (p.Arg1820Gln) rs372644599 0.00001
NM_017780.4(CHD7):c.556A>G (p.Met186Val) rs1320149797 0.00001
NM_017780.4(CHD7):c.5828G>A (p.Arg1943Gln) rs753723769 0.00001
NM_017780.4(CHD7):c.583C>T (p.Arg195Cys) rs773990845 0.00001
NM_017780.4(CHD7):c.5963T>C (p.Val1988Ala) rs1805501956 0.00001
NM_017780.4(CHD7):c.6437T>C (p.Leu2146Pro) rs794727554 0.00001
NM_017780.4(CHD7):c.6632C>T (p.Ala2211Val) rs1398262614 0.00001
NM_017780.4(CHD7):c.6914T>A (p.Phe2305Tyr) rs750003961 0.00001
NM_017780.4(CHD7):c.7017G>A (p.Met2339Ile) rs1247369056 0.00001
NM_017780.4(CHD7):c.7018T>C (p.Phe2340Leu) rs766773531 0.00001
NM_017780.4(CHD7):c.7673C>T (p.Pro2558Leu) rs776711005 0.00001
NM_017780.4(CHD7):c.7681G>A (p.Gly2561Arg) rs774255090 0.00001
NM_017780.4(CHD7):c.778C>T (p.Pro260Ser) rs766382878 0.00001
NM_017780.4(CHD7):c.839C>G (p.Pro280Arg) rs760775347 0.00001
NM_017780.4(CHD7):c.8413G>A (p.Gly2805Ser) rs759567393 0.00001
NM_017780.4(CHD7):c.8557G>A (p.Glu2853Lys) rs774843956 0.00001
NM_017780.4(CHD7):c.8798C>G (p.Ser2933Cys) rs374344463 0.00001
NM_017780.4(CHD7):c.8954A>G (p.Asp2985Gly) rs1308226776 0.00001
NM_017780.4(CHD7):c.8957G>C (p.Gly2986Ala) rs374004489 0.00001
NM_017780.4(CHD7):c.938A>G (p.Tyr313Cys) rs1472626804 0.00001
NM_017780.4(CHD7):c.1061C>T (p.Pro354Leu) rs2150579970
NM_017780.4(CHD7):c.1079G>A (p.Gly360Glu)
NM_017780.4(CHD7):c.1188G>A (p.Met396Ile)
NM_017780.4(CHD7):c.1195A>G (p.Met399Val)
NM_017780.4(CHD7):c.1285A>C (p.Asn429His) rs771200821
NM_017780.4(CHD7):c.1349T>G (p.Met450Arg)
NM_017780.4(CHD7):c.1384A>G (p.Ile462Val)
NM_017780.4(CHD7):c.1466A>C (p.Gln489Pro)
NM_017780.4(CHD7):c.1503T>A (p.His501Gln)
NM_017780.4(CHD7):c.1543C>A (p.Pro515Thr) rs1210884047
NM_017780.4(CHD7):c.1630C>T (p.Pro544Ser)
NM_017780.4(CHD7):c.2203CCT[2] (p.Pro737del) rs748363597
NM_017780.4(CHD7):c.2295C>G (p.Phe765Leu)
NM_017780.4(CHD7):c.2357C>T (p.Thr786Ile) rs1563611998
NM_017780.4(CHD7):c.2381C>T (p.Ser794Phe) rs1180700295
NM_017780.4(CHD7):c.2399C>T (p.Pro800Leu)
NM_017780.4(CHD7):c.2449T>C (p.Ser817Pro)
NM_017780.4(CHD7):c.2520_2521delinsTC (p.Trp840_Ala841delinsCysPro) rs1563625272
NM_017780.4(CHD7):c.257C>G (p.Pro86Arg) rs1355349547
NM_017780.4(CHD7):c.2711A>G (p.Tyr904Cys)
NM_017780.4(CHD7):c.2782A>G (p.Lys928Glu)
NM_017780.4(CHD7):c.2813G>C (p.Arg938Thr) rs763978472
NM_017780.4(CHD7):c.2830C>A (p.Arg944Ser) rs587783435
NM_017780.4(CHD7):c.3007T>A (p.Ser1003Thr)
NM_017780.4(CHD7):c.3241A>T (p.Ile1081Phe) rs768184220
NM_017780.4(CHD7):c.3344G>A (p.Cys1115Tyr) rs1563632581
NM_017780.4(CHD7):c.3372G>A (p.Met1124Ile)
NM_017780.4(CHD7):c.3379-5C>G
NM_017780.4(CHD7):c.3437G>C (p.Ser1146Thr)
NM_017780.4(CHD7):c.3461G>T (p.Ser1154Ile)
NM_017780.4(CHD7):c.3504T>G (p.Asp1168Glu)
NM_017780.4(CHD7):c.3541A>G (p.Ile1181Val)
NM_017780.4(CHD7):c.3820A>C (p.Asn1274His)
NM_017780.4(CHD7):c.3848A>G (p.Gln1283Arg)
NM_017780.4(CHD7):c.3887A>T (p.Asp1296Val)
NM_017780.4(CHD7):c.3910G>A (p.Ala1304Thr)
NM_017780.4(CHD7):c.3928C>T (p.Leu1310Phe) rs1563643440
NM_017780.4(CHD7):c.399G>T (p.Arg133Ser) rs1261424171
NM_017780.4(CHD7):c.4076G>A (p.Arg1359Lys)
NM_017780.4(CHD7):c.4159G>A (p.Asp1387Asn) rs1804770146
NM_017780.4(CHD7):c.4187C>T (p.Ala1396Val)
NM_017780.4(CHD7):c.4313T>G (p.Val1438Gly)
NM_017780.4(CHD7):c.443G>A (p.Arg148Lys)
NM_017780.4(CHD7):c.4531A>G (p.Lys1511Glu)
NM_017780.4(CHD7):c.4858C>T (p.Arg1620Trp) rs986373484
NM_017780.4(CHD7):c.4868A>G (p.Asp1623Gly)
NM_017780.4(CHD7):c.5092G>A (p.Val1698Met)
NM_017780.4(CHD7):c.5108C>T (p.Thr1703Ile) rs1236442873
NM_017780.4(CHD7):c.5284G>C (p.Glu1762Gln)
NM_017780.4(CHD7):c.530C>G (p.Pro177Arg)
NM_017780.4(CHD7):c.5360A>C (p.Asp1787Ala) rs1554603278
NM_017780.4(CHD7):c.5380C>G (p.Leu1794Val) rs1554603285
NM_017780.4(CHD7):c.5387T>A (p.Ile1796Asn) rs1554603290
NM_017780.4(CHD7):c.5389G>A (p.Gly1797Arg) rs1563656016
NM_017780.4(CHD7):c.5420A>G (p.Asn1807Ser)
NM_017780.4(CHD7):c.5569T>C (p.Tyr1857His)
NM_017780.4(CHD7):c.5617A>G (p.Asn1873Asp) rs1403279129
NM_017780.4(CHD7):c.5720C>T (p.Ser1907Leu)
NM_017780.4(CHD7):c.5791C>G (p.Gln1931Glu)
NM_017780.4(CHD7):c.5887C>T (p.Arg1963Trp)
NM_017780.4(CHD7):c.5C>G (p.Ala2Gly)
NM_017780.4(CHD7):c.6026A>C (p.Glu2009Ala)
NM_017780.4(CHD7):c.6047G>A (p.Ser2016Asn)
NM_017780.4(CHD7):c.6109C>A (p.Pro2037Thr)
NM_017780.4(CHD7):c.6122C>T (p.Ser2041Phe)
NM_017780.4(CHD7):c.6134C>T (p.Pro2045Leu)
NM_017780.4(CHD7):c.6259C>A (p.Leu2087Met)
NM_017780.4(CHD7):c.6273G>T (p.Trp2091Cys) rs2150809927
NM_017780.4(CHD7):c.6325G>T (p.Val2109Phe)
NM_017780.4(CHD7):c.6629A>G (p.Glu2210Gly)
NM_017780.4(CHD7):c.6758A>T (p.Glu2253Val)
NM_017780.4(CHD7):c.6989_6990delinsCT (p.Gly2330Ala) rs1554604771
NM_017780.4(CHD7):c.7262T>C (p.Met2421Thr)
NM_017780.4(CHD7):c.7345A>G (p.Arg2449Gly)
NM_017780.4(CHD7):c.7514G>A (p.Gly2505Glu)
NM_017780.4(CHD7):c.7516G>C (p.Glu2506Gln) rs1805738026
NM_017780.4(CHD7):c.772C>T (p.His258Tyr)
NM_017780.4(CHD7):c.785C>T (p.Thr262Ile)
NM_017780.4(CHD7):c.8077-4C>G
NM_017780.4(CHD7):c.8140G>A (p.Ala2714Thr)
NM_017780.4(CHD7):c.8176G>A (p.Ala2726Thr)
NM_017780.4(CHD7):c.8231T>C (p.Leu2744Ser) rs1806181643
NM_017780.4(CHD7):c.8259G>A (p.Met2753Ile)
NM_017780.4(CHD7):c.8270G>T (p.Ser2757Ile)
NM_017780.4(CHD7):c.8295G>C (p.Gln2765His)
NM_017780.4(CHD7):c.8620G>T (p.Val2874Phe)
NM_017780.4(CHD7):c.8776G>A (p.Gly2926Arg) rs1806214950
NM_017780.4(CHD7):c.8844A>C (p.Lys2948Asn)
NM_017780.4(CHD7):c.8866A>G (p.Ser2956Gly)
NM_017780.4(CHD7):c.8909T>C (p.Leu2970Pro)
NM_017780.4(CHD7):c.8932G>A (p.Gly2978Ser) rs1320946658
NM_017780.4(CHD7):c.8947T>G (p.Ser2983Ala)
NM_017780.4(CHD7):c.965T>C (p.Leu322Ser)

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