ClinVar Miner

List of variants in gene CHD7 reported as uncertain significance by GeneDx

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 258
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HGVS dbSNP gnomAD frequency
NM_017780.4(CHD7):c.2613+5G>A rs202143667 0.00008
NM_017780.4(CHD7):c.8580C>T (p.Ser2860=) rs767368987 0.00007
NM_017780.4(CHD7):c.5015C>T (p.Ala1672Val) rs61737194 0.00006
NM_017780.4(CHD7):c.6034G>A (p.Glu2012Lys) rs904822604 0.00006
NM_017780.4(CHD7):c.5105G>A (p.Ser1702Asn) rs370599133 0.00005
NM_017780.4(CHD7):c.2840G>A (p.Arg947Gln) rs768481542 0.00004
NM_017780.4(CHD7):c.4516G>A (p.Gly1506Ser) rs750258756 0.00004
NM_017780.4(CHD7):c.4885C>T (p.Arg1629Cys) rs745837768 0.00004
NM_017780.4(CHD7):c.5399A>G (p.Lys1800Arg) rs1481262806 0.00004
NM_017780.4(CHD7):c.6278G>A (p.Cys2093Tyr) rs766776212 0.00004
NM_017780.4(CHD7):c.6304G>T (p.Val2102Phe) rs753559567 0.00004
NM_017780.4(CHD7):c.7952A>G (p.Asn2651Ser) rs780161032 0.00004
NM_017780.4(CHD7):c.8639C>T (p.Pro2880Leu) rs113938624 0.00004
NM_017780.4(CHD7):c.3190A>G (p.Lys1064Glu) rs200565677 0.00003
NM_017780.4(CHD7):c.7261A>G (p.Met2421Val) rs1064794834 0.00003
NM_017780.4(CHD7):c.215A>G (p.Tyr72Cys) rs767819417 0.00002
NM_017780.4(CHD7):c.2830C>T (p.Arg944Cys) rs587783435 0.00002
NM_017780.4(CHD7):c.3238A>G (p.Ile1080Val) rs1271767085 0.00002
NM_017780.4(CHD7):c.3487A>G (p.Met1163Val) rs886044534 0.00002
NM_017780.4(CHD7):c.5017G>A (p.Asp1673Asn) rs769563309 0.00002
NM_017780.4(CHD7):c.5336C>T (p.Ala1779Val) rs753913368 0.00002
NM_017780.4(CHD7):c.5467A>G (p.Met1823Val) rs769931428 0.00002
NM_017780.4(CHD7):c.755C>T (p.Ser252Leu) rs371930390 0.00002
NM_017780.4(CHD7):c.8767G>A (p.Ala2923Thr) rs1242867481 0.00002
NM_017780.4(CHD7):c.1060C>G (p.Pro354Ala) rs878893652 0.00001
NM_017780.4(CHD7):c.1225C>T (p.Pro409Ser) rs1554581580 0.00001
NM_017780.4(CHD7):c.1264A>G (p.Met422Val) rs1064795809 0.00001
NM_017780.4(CHD7):c.1346A>G (p.Asn449Ser) rs1208556547 0.00001
NM_017780.4(CHD7):c.1445G>C (p.Gly482Ala) rs911422083 0.00001
NM_017780.4(CHD7):c.1493G>A (p.Gly498Asp) rs547298242 0.00001
NM_017780.4(CHD7):c.2192C>T (p.Pro731Leu) rs1064794416 0.00001
NM_017780.4(CHD7):c.2656C>T (p.Arg886Trp) rs772260091 0.00001
NM_017780.4(CHD7):c.2657G>A (p.Arg886Gln) rs1384228127 0.00001
NM_017780.4(CHD7):c.2759G>A (p.Arg920Gln) rs1014640333 0.00001
NM_017780.4(CHD7):c.2839C>A (p.Arg947=) rs200220845 0.00001
NM_017780.4(CHD7):c.2900A>T (p.Lys967Ile) rs1345463010 0.00001
NM_017780.4(CHD7):c.3043A>G (p.Ile1015Val) rs1415116812 0.00001
NM_017780.4(CHD7):c.3202-7C>G rs376893919 0.00001
NM_017780.4(CHD7):c.3591C>G (p.Asn1197Lys) rs750556683 0.00001
NM_017780.4(CHD7):c.3712G>A (p.Val1238Ile) rs794727150 0.00001
NM_017780.4(CHD7):c.3994C>T (p.Pro1332Ser) rs1804764382 0.00001
NM_017780.4(CHD7):c.4477C>T (p.Arg1493Cys) rs1009126876 0.00001
NM_017780.4(CHD7):c.4795C>G (p.Gln1599Glu) rs267606724 0.00001
NM_017780.4(CHD7):c.5390G>C (p.Gly1797Ala) rs780597592 0.00001
NM_017780.4(CHD7):c.5442G>A (p.Ala1814=) rs558567843 0.00001
NM_017780.4(CHD7):c.5446T>A (p.Cys1816Ser) rs1563657431 0.00001
NM_017780.4(CHD7):c.5459G>A (p.Arg1820Gln) rs372644599 0.00001
NM_017780.4(CHD7):c.5735G>A (p.Arg1912His) rs767326758 0.00001
NM_017780.4(CHD7):c.5816G>A (p.Arg1939Gln) rs1024797402 0.00001
NM_017780.4(CHD7):c.5834G>A (p.Arg1945Gln) rs374040699 0.00001
NM_017780.4(CHD7):c.5863A>G (p.Arg1955Gly) rs1805484724 0.00001
NM_017780.4(CHD7):c.6169C>T (p.Arg2057Cys) rs192260844 0.00001
NM_017780.4(CHD7):c.6194G>A (p.Arg2065His) rs1197494895 0.00001
NM_017780.4(CHD7):c.6284G>A (p.Arg2095Gln) rs773114816 0.00001
NM_017780.4(CHD7):c.6377A>T (p.Asp2126Val) rs1064794182 0.00001
NM_017780.4(CHD7):c.6596G>A (p.Ser2199Asn) rs1064794854 0.00001
NM_017780.4(CHD7):c.6782C>T (p.Ala2261Val) rs1047690374 0.00001
NM_017780.4(CHD7):c.6914T>A (p.Phe2305Tyr) rs750003961 0.00001
NM_017780.4(CHD7):c.6956G>A (p.Arg2319His) rs765943226 0.00001
NM_017780.4(CHD7):c.7140C>G (p.Ile2380Met) rs1287878235 0.00001
NM_017780.4(CHD7):c.733A>G (p.Met245Val) rs768507639 0.00001
NM_017780.4(CHD7):c.7538G>A (p.Arg2513Gln) rs1064794649 0.00001
NM_017780.4(CHD7):c.7868C>T (p.Pro2623Leu) rs1468230389 0.00001
NM_017780.4(CHD7):c.7972A>G (p.Met2658Val) rs1056534038 0.00001
NM_017780.4(CHD7):c.8077-12C>G rs558533630 0.00001
NM_017780.4(CHD7):c.8128C>T (p.Arg2710Trp) rs1418386669 0.00001
NM_017780.4(CHD7):c.8141C>T (p.Ala2714Val) rs573554562 0.00001
NM_017780.4(CHD7):c.839C>G (p.Pro280Arg) rs760775347 0.00001
NM_017780.4(CHD7):c.8557G>A (p.Glu2853Lys) rs774843956 0.00001
NM_017780.4(CHD7):c.8588C>A (p.Ala2863Asp) rs970020036 0.00001
NM_017780.4(CHD7):c.89C>T (p.Pro30Leu) rs768014298 0.00001
NM_017780.4(CHD7):c.-174-1G>A
NM_017780.4(CHD7):c.107C>G (p.Pro36Arg) rs2150577446
NM_017780.4(CHD7):c.109A>G (p.Met37Val) rs1416709395
NM_017780.4(CHD7):c.1122C>T (p.Asn374=)
NM_017780.4(CHD7):c.1163G>A (p.Gly388Glu) rs757050240
NM_017780.4(CHD7):c.1271_1273del (p.Val424del) rs1466152038
NM_017780.4(CHD7):c.1423A>T (p.Met475Leu) rs773039925
NM_017780.4(CHD7):c.1428G>T (p.Arg476Ser) rs766339850
NM_017780.4(CHD7):c.1454T>C (p.Leu485Pro) rs1313748646
NM_017780.4(CHD7):c.1514A>G (p.Gln505Arg) rs1001211309
NM_017780.4(CHD7):c.1535C>T (p.Pro512Leu) rs2150581214
NM_017780.4(CHD7):c.1646A>G (p.Gln549Arg) rs2150581508
NM_017780.4(CHD7):c.1654C>T (p.Pro552Ser)
NM_017780.4(CHD7):c.2097-19G>A rs559713378
NM_017780.4(CHD7):c.2107C>A (p.Pro703Thr)
NM_017780.4(CHD7):c.2134A>G (p.Lys712Glu)
NM_017780.4(CHD7):c.2147_2148delinsTT (p.Lys716Ile) rs1563606900
NM_017780.4(CHD7):c.2212G>C (p.Glu738Gln) rs375850262
NM_017780.4(CHD7):c.22A>T (p.Ser8Cys)
NM_017780.4(CHD7):c.2309AGG[1] (p.Glu771del) rs761153051
NM_017780.4(CHD7):c.236A>G (p.Lys79Arg) rs1064796792
NM_017780.4(CHD7):c.2425C>T (p.Arg809Cys) rs2150711196
NM_017780.4(CHD7):c.2466A>T (p.Glu822Asp) rs2150723930
NM_017780.4(CHD7):c.2516A>G (p.Gln839Arg) rs2150738931
NM_017780.4(CHD7):c.2644G>A (p.Val882Met)
NM_017780.4(CHD7):c.2674C>T (p.Arg892Cys) rs768961973
NM_017780.4(CHD7):c.2713C>G (p.Leu905Val) rs2150748752
NM_017780.4(CHD7):c.2726_2728dup (p.Cys909dup) rs1554597381
NM_017780.4(CHD7):c.2779G>A (p.Ala927Thr)
NM_017780.4(CHD7):c.2783A>G (p.Lys928Arg)
NM_017780.4(CHD7):c.2801A>C (p.Lys934Thr) rs767217637
NM_017780.4(CHD7):c.2808G>A (p.Met936Ile)
NM_017780.4(CHD7):c.2852A>T (p.Asp951Val) rs768456277
NM_017780.4(CHD7):c.2968A>G (p.Ile990Val) rs774245379
NM_017780.4(CHD7):c.2977G>T (p.Asp993Tyr) rs1057518227
NM_017780.4(CHD7):c.3077C>A (p.Ser1026Tyr)
NM_017780.4(CHD7):c.311A>G (p.Gln104Arg)
NM_017780.4(CHD7):c.3157C>T (p.Arg1053Cys) rs1064794432
NM_017780.4(CHD7):c.3158G>A (p.Arg1053His)
NM_017780.4(CHD7):c.3166A>T (p.Ile1056Phe)
NM_017780.4(CHD7):c.3191A>G (p.Lys1064Arg) rs771941657
NM_017780.4(CHD7):c.3200A>C (p.Gln1067Pro)
NM_017780.4(CHD7):c.3314A>G (p.Asp1105Gly)
NM_017780.4(CHD7):c.3319G>A (p.Ala1107Thr)
NM_017780.4(CHD7):c.3372_3373delinsAT (p.Met1124_Asp1125delinsIleTyr) rs1804159058
NM_017780.4(CHD7):c.3398C>T (p.Thr1133Met) rs1064793083
NM_017780.4(CHD7):c.3403A>G (p.Thr1135Ala)
NM_017780.4(CHD7):c.3433T>C (p.Phe1145Leu) rs1131691908
NM_017780.4(CHD7):c.3523G>A (p.Val1175Met) rs2150764579
NM_017780.4(CHD7):c.3650A>G (p.Tyr1217Cys) rs2150764796
NM_017780.4(CHD7):c.3716C>T (p.Pro1239Leu) rs2150765007
NM_017780.4(CHD7):c.3746G>A (p.Arg1249Gln) rs369298165
NM_017780.4(CHD7):c.3967G>A (p.Glu1323Lys) rs886041168
NM_017780.4(CHD7):c.4026C>T (p.Gly1342=) rs1057524839
NM_017780.4(CHD7):c.4033C>T (p.Arg1345Cys) rs1563644113
NM_017780.4(CHD7):c.4034G>T (p.Arg1345Leu) rs1804766911
NM_017780.4(CHD7):c.4056C>A (p.Phe1352Leu) rs2150777183
NM_017780.4(CHD7):c.4072G>A (p.Asp1358Asn)
NM_017780.4(CHD7):c.4115_4116delinsTT (p.Gly1372Val) rs2150777287
NM_017780.4(CHD7):c.4136A>C (p.Asp1379Ala) rs1085307453
NM_017780.4(CHD7):c.4136A>T (p.Asp1379Val)
NM_017780.4(CHD7):c.4199_4201del (p.Cys1400_His1401delinsTyr)
NM_017780.4(CHD7):c.4215G>C (p.Gln1405His)
NM_017780.4(CHD7):c.4247C>T (p.Thr1416Ile)
NM_017780.4(CHD7):c.425G>C (p.Ser142Thr)
NM_017780.4(CHD7):c.4291A>G (p.Lys1431Glu) rs1554600817
NM_017780.4(CHD7):c.4319A>G (p.Gln1440Arg)
NM_017780.4(CHD7):c.443G>A (p.Arg148Lys)
NM_017780.4(CHD7):c.4469T>C (p.Ile1490Thr)
NM_017780.4(CHD7):c.451C>G (p.Gln151Glu)
NM_017780.4(CHD7):c.4533+5G>C
NM_017780.4(CHD7):c.4541T>G (p.Phe1514Cys) rs1554601592
NM_017780.4(CHD7):c.4547C>T (p.Ala1516Val)
NM_017780.4(CHD7):c.4561A>G (p.Thr1521Ala) rs1804981976
NM_017780.4(CHD7):c.4565A>G (p.Asp1522Gly) rs2150786072
NM_017780.4(CHD7):c.4574T>C (p.Leu1525Ser) rs2150786094
NM_017780.4(CHD7):c.4577A>G (p.Asp1526Gly)
NM_017780.4(CHD7):c.4594C>G (p.Gln1532Glu) rs2150786112
NM_017780.4(CHD7):c.4666C>G (p.Pro1556Ala)
NM_017780.4(CHD7):c.472G>A (p.Ala158Thr)
NM_017780.4(CHD7):c.4734C>G (p.Asp1578Glu) rs1434566381
NM_017780.4(CHD7):c.475C>G (p.Pro159Ala) rs1064794560
NM_017780.4(CHD7):c.4784A>G (p.Gln1595Arg)
NM_017780.4(CHD7):c.4816_4818delinsGGC (p.Cys1606Gly) rs2150786931
NM_017780.4(CHD7):c.4850+4A>G
NM_017780.4(CHD7):c.4851-7T>G rs1057524753
NM_017780.4(CHD7):c.4858C>T (p.Arg1620Trp) rs986373484
NM_017780.4(CHD7):c.4889A>G (p.Tyr1630Cys)
NM_017780.4(CHD7):c.4972G>C (p.Glu1658Gln) rs1805142705
NM_017780.4(CHD7):c.504G>C (p.Gln168His) rs2150578451
NM_017780.4(CHD7):c.5066T>C (p.Val1689Ala) rs2150793920
NM_017780.4(CHD7):c.5070A>C (p.Pro1690=) rs2150793937
NM_017780.4(CHD7):c.5103G>C (p.Gln1701His) rs2150793981
NM_017780.4(CHD7):c.5108C>T (p.Thr1703Ile) rs1236442873
NM_017780.4(CHD7):c.512A>G (p.Gln171Arg) rs2150578491
NM_017780.4(CHD7):c.5250A>C (p.Gln1750His)
NM_017780.4(CHD7):c.5381T>C (p.Leu1794Pro) rs1064795943
NM_017780.4(CHD7):c.5426T>C (p.Met1809Thr) rs1554603550
NM_017780.4(CHD7):c.546C>G (p.His182Gln)
NM_017780.4(CHD7):c.547C>T (p.Pro183Ser) rs2150578600
NM_017780.4(CHD7):c.5521G>C (p.Asp1841His)
NM_017780.4(CHD7):c.5633A>G (p.Asp1878Gly) rs749861487
NM_017780.4(CHD7):c.5701C>T (p.Leu1901Phe)
NM_017780.4(CHD7):c.5747T>C (p.Leu1916Pro) rs2150807717
NM_017780.4(CHD7):c.5770T>C (p.Tyr1924His)
NM_017780.4(CHD7):c.5771A>G (p.Tyr1924Cys) rs769144470
NM_017780.4(CHD7):c.5798C>A (p.Ala1933Asp) rs773867024
NM_017780.4(CHD7):c.5849C>T (p.Ala1950Val)
NM_017780.4(CHD7):c.5875A>T (p.Ile1959Leu)
NM_017780.4(CHD7):c.5995G>A (p.Ala1999Thr) rs1064794548
NM_017780.4(CHD7):c.5995G>C (p.Ala1999Pro) rs1064794548
NM_017780.4(CHD7):c.6116T>G (p.Leu2039Arg) rs2150809452
NM_017780.4(CHD7):c.6166T>C (p.Tyr2056His)
NM_017780.4(CHD7):c.6178C>G (p.Leu2060Val) rs1302545775
NM_017780.4(CHD7):c.6190A>G (p.Ile2064Val)
NM_017780.4(CHD7):c.6193C>G (p.Arg2065Gly) rs1064794250
NM_017780.4(CHD7):c.6196G>A (p.Glu2066Lys)
NM_017780.4(CHD7):c.61_62delinsTC (p.Leu21Ser)
NM_017780.4(CHD7):c.6202G>A (p.Val2068Ile)
NM_017780.4(CHD7):c.6241T>C (p.Cys2081Arg) rs2150809854
NM_017780.4(CHD7):c.6323G>A (p.Gly2108Glu)
NM_017780.4(CHD7):c.6331C>T (p.Arg2111Trp)
NM_017780.4(CHD7):c.635A>G (p.Gln212Arg)
NM_017780.4(CHD7):c.6372C>G (p.Phe2124Leu)
NM_017780.4(CHD7):c.6401A>G (p.Asn2134Ser)
NM_017780.4(CHD7):c.641C>T (p.Ser214Phe)
NM_017780.4(CHD7):c.6431A>C (p.Asn2144Thr)
NM_017780.4(CHD7):c.6466G>A (p.Val2156Ile)
NM_017780.4(CHD7):c.6557A>T (p.Lys2186Ile) rs754943887
NM_017780.4(CHD7):c.6626C>T (p.Ala2209Val)
NM_017780.4(CHD7):c.6632C>A (p.Ala2211Asp) rs1398262614
NM_017780.4(CHD7):c.6691T>C (p.Ser2231Pro)
NM_017780.4(CHD7):c.6740A>G (p.Asp2247Gly)
NM_017780.4(CHD7):c.6746A>G (p.Asp2249Gly)
NM_017780.4(CHD7):c.6749A>G (p.Lys2250Arg)
NM_017780.4(CHD7):c.6772G>A (p.Glu2258Lys)
NM_017780.4(CHD7):c.6880C>T (p.Pro2294Ser) rs767696409
NM_017780.4(CHD7):c.706T>C (p.Ser236Pro)
NM_017780.4(CHD7):c.7070C>T (p.Pro2357Leu)
NM_017780.4(CHD7):c.7107C>A (p.Val2369=) rs773674773
NM_017780.4(CHD7):c.7108G>C (p.Gly2370Arg)
NM_017780.4(CHD7):c.7155G>T (p.Gln2385His)
NM_017780.4(CHD7):c.7180C>T (p.Leu2394Phe) rs1168283468
NM_017780.4(CHD7):c.722A>G (p.Gln241Arg)
NM_017780.4(CHD7):c.7274C>G (p.Ala2425Gly) rs2129648417
NM_017780.4(CHD7):c.7312C>G (p.Gln2438Glu) rs1060503188
NM_017780.4(CHD7):c.7328A>G (p.Asp2443Gly) rs2129649399
NM_017780.4(CHD7):c.732_739delinsTATGGCAT (p.Pro247Ser) rs2150579026
NM_017780.4(CHD7):c.7460C>T (p.Ala2487Val) rs1349434680
NM_017780.4(CHD7):c.7468T>C (p.Ser2490Pro) rs1319276265
NM_017780.4(CHD7):c.7469C>G (p.Ser2490Trp) rs371595770
NM_017780.4(CHD7):c.7519C>T (p.Pro2507Ser)
NM_017780.4(CHD7):c.7526T>A (p.Met2509Lys)
NM_017780.4(CHD7):c.7543A>G (p.Arg2515Gly) rs1805740102
NM_017780.4(CHD7):c.7602G>T (p.Leu2534Phe)
NM_017780.4(CHD7):c.7608+6T>C
NM_017780.4(CHD7):c.7652C>A (p.Thr2551Asn) rs942070972
NM_017780.4(CHD7):c.7971G>T (p.Lys2657Asn) rs2129721996
NM_017780.4(CHD7):c.8104C>T (p.Arg2702Cys) rs1373315351
NM_017780.4(CHD7):c.8194G>A (p.Ala2732Thr) rs1806179701
NM_017780.4(CHD7):c.8198C>A (p.Ala2733Asp)
NM_017780.4(CHD7):c.8224A>C (p.Asn2742His)
NM_017780.4(CHD7):c.8225A>G (p.Asn2742Ser) rs1416636387
NM_017780.4(CHD7):c.8233C>G (p.Leu2745Val) rs2129759389
NM_017780.4(CHD7):c.8270G>T (p.Ser2757Ile)
NM_017780.4(CHD7):c.8284C>G (p.Gln2762Glu) rs1286287151
NM_017780.4(CHD7):c.8294A>T (p.Gln2765Leu) rs1806184554
NM_017780.4(CHD7):c.8295G>T (p.Gln2765His) rs375083875
NM_017780.4(CHD7):c.8324T>C (p.Phe2775Ser)
NM_017780.4(CHD7):c.8325C>G (p.Phe2775Leu) rs2129761150
NM_017780.4(CHD7):c.8411C>T (p.Ala2804Val) rs770781688
NM_017780.4(CHD7):c.8651C>G (p.Pro2884Arg) rs775800575
NM_017780.4(CHD7):c.8674C>G (p.Pro2892Ala) rs1806208860
NM_017780.4(CHD7):c.8713C>A (p.Pro2905Thr) rs2129768643
NM_017780.4(CHD7):c.8717C>T (p.Ser2906Phe)
NM_017780.4(CHD7):c.877A>G (p.Ser293Gly)
NM_017780.4(CHD7):c.879T>A (p.Ser293Arg)
NM_017780.4(CHD7):c.8871T>A (p.Asp2957Glu) rs2129771538
NM_017780.4(CHD7):c.892A>G (p.Thr298Ala) rs886063033
NM_017780.4(CHD7):c.8939A>G (p.Glu2980Gly) rs2129772587
NM_017780.4(CHD7):c.8946C>T (p.Asp2982=)
NM_017780.4(CHD7):c.8949_8957del (p.Leu2984_Gly2986del)
NM_017780.4(CHD7):c.8957G>T (p.Gly2986Val) rs374004489
NM_017780.4(CHD7):c.8960_8962del (p.Gly2987del) rs771806027
NM_017780.4(CHD7):c.8965G>A (p.Glu2989Lys) rs1455036121
NM_017780.4(CHD7):c.905CTA[1] (p.Thr303del)
NM_017780.4(CHD7):c.908C>G (p.Thr303Ser) rs2150579546

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