ClinVar Miner

List of variants reported as uncertain significance for CHARGE association by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 328
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HGVS dbSNP
NC_000007.14:g.(?_83367566)_(83648562_?)del
NC_000008.11:g.(?_60741413)_(60865953_?)dup
NM_012431.3(SEMA3E):c.1017T>A (p.His339Gln) rs746431820
NM_012431.3(SEMA3E):c.1043G>A (p.Ser348Asn) rs1293541067
NM_012431.3(SEMA3E):c.1048C>T (p.Arg350Trp)
NM_012431.3(SEMA3E):c.1049G>A (p.Arg350Gln) rs748722795
NM_012431.3(SEMA3E):c.1075C>G (p.His359Asp)
NM_012431.3(SEMA3E):c.1076A>G (p.His359Arg)
NM_012431.3(SEMA3E):c.1076A>T (p.His359Leu)
NM_012431.3(SEMA3E):c.1081G>A (p.Glu361Lys) rs754754690
NM_012431.3(SEMA3E):c.1084G>A (p.Gly362Arg) rs751565672
NM_012431.3(SEMA3E):c.116-10T>A rs1562804630
NM_012431.3(SEMA3E):c.1172A>T (p.Tyr391Phe)
NM_012431.3(SEMA3E):c.1198G>T (p.Asp400Tyr)
NM_012431.3(SEMA3E):c.1216A>G (p.Arg406Gly) rs1584221582
NM_012431.3(SEMA3E):c.1243A>T (p.Ile415Leu)
NM_012431.3(SEMA3E):c.1290A>T (p.Lys430Asn)
NM_012431.3(SEMA3E):c.1303C>G (p.Gln435Glu) rs752774852
NM_012431.3(SEMA3E):c.1309G>A (p.Ala437Thr)
NM_012431.3(SEMA3E):c.1341A>G (p.Gln447=)
NM_012431.3(SEMA3E):c.1411A>G (p.Met471Val)
NM_012431.3(SEMA3E):c.1429G>A (p.Val477Ile) rs1327334624
NM_012431.3(SEMA3E):c.1498C>T (p.Arg500Trp) rs111300014
NM_012431.3(SEMA3E):c.149A>G (p.His50Arg)
NM_012431.3(SEMA3E):c.1500G>A (p.Arg500=)
NM_012431.3(SEMA3E):c.1500G>T (p.Arg500=)
NM_012431.3(SEMA3E):c.1506G>T (p.Gln502His) rs1170846873
NM_012431.3(SEMA3E):c.154C>A (p.Pro52Thr)
NM_012431.3(SEMA3E):c.1637G>A (p.Arg546Gln) rs769248913
NM_012431.3(SEMA3E):c.167T>C (p.Leu56Pro) rs375067711
NM_012431.3(SEMA3E):c.1690C>T (p.Arg564Ter) rs1420638220
NM_012431.3(SEMA3E):c.1733T>C (p.Val578Ala)
NM_012431.3(SEMA3E):c.1753A>G (p.Thr585Ala)
NM_012431.3(SEMA3E):c.1855C>T (p.Arg619Cys) rs143631464
NM_012431.3(SEMA3E):c.1909C>G (p.Leu637Val) rs771976054
NM_012431.3(SEMA3E):c.1918C>T (p.Leu640Phe) rs1246755098
NM_012431.3(SEMA3E):c.196T>C (p.Tyr66His)
NM_012431.3(SEMA3E):c.1991C>T (p.Thr664Met) rs375536813
NM_012431.3(SEMA3E):c.2048A>G (p.Asn683Ser) rs144370841
NM_012431.3(SEMA3E):c.2053G>A (p.Asp685Asn)
NM_012431.3(SEMA3E):c.2133G>T (p.Lys711Asn) rs768818178
NM_012431.3(SEMA3E):c.214G>T (p.Val72Leu) rs371960755
NM_012431.3(SEMA3E):c.2152G>A (p.Gly718Ser) rs148649507
NM_012431.3(SEMA3E):c.2188G>T (p.Glu730Ter) rs752107396
NM_012431.3(SEMA3E):c.2208T>G (p.Asp736Glu)
NM_012431.3(SEMA3E):c.2320G>T (p.Asp774Tyr) rs767621375
NM_012431.3(SEMA3E):c.265G>A (p.Gly89Ser)
NM_012431.3(SEMA3E):c.320T>A (p.Met107Lys)
NM_012431.3(SEMA3E):c.321G>A (p.Met107Ile)
NM_012431.3(SEMA3E):c.322A>C (p.Lys108Gln) rs201465097
NM_012431.3(SEMA3E):c.359G>A (p.Arg120Gln) rs781381659
NM_012431.3(SEMA3E):c.371A>G (p.His124Arg)
NM_012431.3(SEMA3E):c.446A>G (p.Tyr149Cys)
NM_012431.3(SEMA3E):c.447T>A (p.Tyr149Ter)
NM_012431.3(SEMA3E):c.475G>C (p.Glu159Gln)
NM_012431.3(SEMA3E):c.511C>T (p.Pro171Ser) rs145249878
NM_012431.3(SEMA3E):c.520C>T (p.Pro174Ser) rs1441322114
NM_012431.3(SEMA3E):c.550+6T>A
NM_012431.3(SEMA3E):c.5C>G (p.Ala2Gly)
NM_012431.3(SEMA3E):c.615C>T (p.Ser205=)
NM_012431.3(SEMA3E):c.635T>C (p.Ile212Thr)
NM_012431.3(SEMA3E):c.713A>G (p.Asp238Gly) rs1554320716
NM_012431.3(SEMA3E):c.716G>C (p.Arg239Thr) rs1295531534
NM_012431.3(SEMA3E):c.718G>T (p.Asp240Tyr) rs777910966
NM_012431.3(SEMA3E):c.796G>A (p.Val266Ile)
NM_012431.3(SEMA3E):c.869C>T (p.Ala290Val)
NM_012431.3(SEMA3E):c.949A>T (p.Thr317Ser) rs752718717
NM_012431.3(SEMA3E):c.955G>A (p.Asp319Asn)
NM_012431.3(SEMA3E):c.995C>G (p.Thr332Ser) rs1554320452
NM_012431.3(SEMA3E):c.999-3C>T
NM_017780.4(CHD7):c.1046A>G (p.Asn349Ser) rs200644351
NM_017780.4(CHD7):c.1051G>A (p.Val351Ile)
NM_017780.4(CHD7):c.1060C>G (p.Pro354Ala) rs878893652
NM_017780.4(CHD7):c.1108A>G (p.Ser370Gly)
NM_017780.4(CHD7):c.1175C>T (p.Ser392Phe) rs373112189
NM_017780.4(CHD7):c.1193C>A (p.Pro398His) rs1586250714
NM_017780.4(CHD7):c.1243C>T (p.Pro415Ser) rs1313265725
NM_017780.4(CHD7):c.1244C>T (p.Pro415Leu)
NM_017780.4(CHD7):c.124C>T (p.Pro42Ser)
NM_017780.4(CHD7):c.1260A>G (p.Ile420Met)
NM_017780.4(CHD7):c.1261C>A (p.Pro421Thr)
NM_017780.4(CHD7):c.1310A>G (p.His437Arg)
NM_017780.4(CHD7):c.1315C>G (p.Pro439Ala)
NM_017780.4(CHD7):c.1373C>G (p.Ser458Cys)
NM_017780.4(CHD7):c.1405A>G (p.Arg469Gly)
NM_017780.4(CHD7):c.1423A>T (p.Met475Leu) rs773039925
NM_017780.4(CHD7):c.1454T>C (p.Leu485Pro)
NM_017780.4(CHD7):c.1496_1497delinsGC (p.Gln499Arg)
NM_017780.4(CHD7):c.152A>G (p.Gln51Arg)
NM_017780.4(CHD7):c.1534C>G (p.Pro512Ala) rs748635676
NM_017780.4(CHD7):c.1554G>C (p.Gln518His) rs369284507
NM_017780.4(CHD7):c.1604A>T (p.Gln535Leu)
NM_017780.4(CHD7):c.1622A>G (p.His541Arg) rs1388338640
NM_017780.4(CHD7):c.1639A>C (p.Thr547Pro)
NM_017780.4(CHD7):c.1657G>T (p.Val553Leu) rs745476515
NM_017780.4(CHD7):c.1672C>G (p.Pro558Ala) rs746837682
NM_017780.4(CHD7):c.1696C>G (p.Pro566Ala)
NM_017780.4(CHD7):c.1703C>T (p.Pro568Leu) rs757689264
NM_017780.4(CHD7):c.1727C>T (p.Pro576Leu) rs746633621
NM_017780.4(CHD7):c.1768A>G (p.Ile590Val) rs769625033
NM_017780.4(CHD7):c.1791_1793GAA[2] (p.Lys602del) rs757119372
NM_017780.4(CHD7):c.1802A>G (p.Lys601Arg) rs1467028739
NM_017780.4(CHD7):c.1867G>C (p.Gly623Arg) rs375905260
NM_017780.4(CHD7):c.1921A>G (p.Lys641Glu) rs1335682527
NM_017780.4(CHD7):c.1966C>T (p.Pro656Ser)
NM_017780.4(CHD7):c.2062G>A (p.Ala688Thr) rs1187193827
NM_017780.4(CHD7):c.207T>G (p.Phe69Leu)
NM_017780.4(CHD7):c.2147_2148delinsTT (p.Lys716Ile) rs1563606900
NM_017780.4(CHD7):c.215A>G (p.Tyr72Cys)
NM_017780.4(CHD7):c.2194C>G (p.Pro732Ala) rs200277422
NM_017780.4(CHD7):c.2245C>T (p.Arg749Trp)
NM_017780.4(CHD7):c.2273G>A (p.Arg758His) rs202208393
NM_017780.4(CHD7):c.2309AGG[1] (p.Glu771del)
NM_017780.4(CHD7):c.2360C>T (p.Ser787Phe) rs1331824961
NM_017780.4(CHD7):c.2375A>G (p.Gln792Arg) rs1441258013
NM_017780.4(CHD7):c.2376+4A>G rs864622519
NM_017780.4(CHD7):c.2468T>C (p.Ile823Thr)
NM_017780.4(CHD7):c.257C>A (p.Pro86Gln)
NM_017780.4(CHD7):c.2665G>A (p.Asp889Asn)
NM_017780.4(CHD7):c.2689C>T (p.Arg897Trp)
NM_017780.4(CHD7):c.2690G>A (p.Arg897Gln)
NM_017780.4(CHD7):c.2698C>T (p.Pro900Ser)
NM_017780.4(CHD7):c.2699C>G (p.Pro900Arg)
NM_017780.4(CHD7):c.2726_2728del (p.Cys909del) rs1554597381
NM_017780.4(CHD7):c.2758C>T (p.Arg920Trp)
NM_017780.4(CHD7):c.277A>G (p.Thr93Ala) rs398124317
NM_017780.4(CHD7):c.2788G>A (p.Glu930Lys) rs377330239
NM_017780.4(CHD7):c.2803C>G (p.Leu935Val)
NM_017780.4(CHD7):c.2810C>G (p.Ser937Cys)
NM_017780.4(CHD7):c.2827G>A (p.Glu943Lys)
NM_017780.4(CHD7):c.2840G>A (p.Arg947Gln) rs768481542
NM_017780.4(CHD7):c.2867C>T (p.Ser956Leu)
NM_017780.4(CHD7):c.2880G>T (p.Arg960Ser) rs1554597489
NM_017780.4(CHD7):c.289G>A (p.Gly97Arg) rs368160678
NM_017780.4(CHD7):c.2905A>G (p.Arg969Gly) rs1554597501
NM_017780.4(CHD7):c.2919_2927del (p.Glu974_Val976del)
NM_017780.4(CHD7):c.295G>C (p.Ala99Pro) rs779024959
NM_017780.4(CHD7):c.2960G>A (p.Arg987Gln) rs767390470
NM_017780.4(CHD7):c.2986G>A (p.Gly996Ser) rs1554597672
NM_017780.4(CHD7):c.3001A>G (p.Ile1001Val)
NM_017780.4(CHD7):c.3025G>A (p.Glu1009Lys)
NM_017780.4(CHD7):c.3030A>G (p.Ile1010Met) rs1206578296
NM_017780.4(CHD7):c.3047A>G (p.His1016Arg) rs750785243
NM_017780.4(CHD7):c.3064A>G (p.Ile1022Val) rs767043440
NM_017780.4(CHD7):c.3190A>G (p.Lys1064Glu)
NM_017780.4(CHD7):c.3206G>A (p.Arg1069Gln)
NM_017780.4(CHD7):c.3224A>G (p.Tyr1075Cys)
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.3372_3373delinsAT (p.Met1124_Asp1125delinsIleTyr)
NM_017780.4(CHD7):c.3379-9T>A rs1586401989
NM_017780.4(CHD7):c.33C>T (p.Gly11=)
NM_017780.4(CHD7):c.3463C>T (p.Arg1155Cys) rs201769233
NM_017780.4(CHD7):c.3464G>A (p.Arg1155His)
NM_017780.4(CHD7):c.355G>T (p.Gly119Cys)
NM_017780.4(CHD7):c.3601A>G (p.Lys1201Glu)
NM_017780.4(CHD7):c.361G>A (p.Gly121Ser) rs587783439
NM_017780.4(CHD7):c.3835G>A (p.Asp1279Asn) rs864622150
NM_017780.4(CHD7):c.3851C>T (p.Ala1284Val) rs1586416413
NM_017780.4(CHD7):c.3949C>T (p.Arg1317Cys) rs373301291
NM_017780.4(CHD7):c.395_400delinsCAA (p.Glu132_His134delinsAlaAsn)
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.4030C>T (p.Leu1344Phe)
NM_017780.4(CHD7):c.4033C>T (p.Arg1345Cys) rs1563644113
NM_017780.4(CHD7):c.4039G>A (p.Ala1347Thr)
NM_017780.4(CHD7):c.4075A>T (p.Arg1359Trp) rs1586417903
NM_017780.4(CHD7):c.4277A>G (p.Asp1426Gly)
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.4659T>A (p.Ile1553=)
NM_017780.4(CHD7):c.476C>T (p.Pro159Leu)
NM_017780.4(CHD7):c.4777C>T (p.Arg1593Cys)
NM_017780.4(CHD7):c.4778G>A (p.Arg1593His) rs766632082
NM_017780.4(CHD7):c.4804G>A (p.Ala1602Thr)
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) rs1249078741
NM_017780.4(CHD7):c.4877C>T (p.Ser1626Phe) rs369608927
NM_017780.4(CHD7):c.4885C>T (p.Arg1629Cys)
NM_017780.4(CHD7):c.4894C>T (p.Arg1632Cys)
NM_017780.4(CHD7):c.4903A>G (p.Thr1635Ala) rs372587744
NM_017780.4(CHD7):c.4972G>C (p.Glu1658Gln)
NM_017780.4(CHD7):c.503A>G (p.Gln168Arg) rs921201693
NM_017780.4(CHD7):c.5082G>T (p.Lys1694Asn)
NM_017780.4(CHD7):c.509C>T (p.Pro170Leu) rs369545523
NM_017780.4(CHD7):c.5131G>A (p.Asp1711Asn) rs748590759
NM_017780.4(CHD7):c.521C>T (p.Pro174Leu)
NM_017780.4(CHD7):c.524C>T (p.Ser175Leu) rs370305211
NM_017780.4(CHD7):c.5263G>C (p.Asp1755His)
NM_017780.4(CHD7):c.5270C>T (p.Ala1757Val) rs368747227
NM_017780.4(CHD7):c.5308G>A (p.Asp1770Asn)
NM_017780.4(CHD7):c.5309A>G (p.Asp1770Gly) rs766488157
NM_017780.4(CHD7):c.532C>G (p.Pro178Ala) rs766416900
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.5399A>G (p.Lys1800Arg)
NM_017780.4(CHD7):c.53G>A (p.Ser18Asn)
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.5527G>A (p.Gly1843Ser)
NM_017780.4(CHD7):c.5533G>A (p.Gly1845Arg) rs753347128
NM_017780.4(CHD7):c.5588C>A (p.Pro1863Gln) rs753437069
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.577A>G (p.Met193Val) rs542672517
NM_017780.4(CHD7):c.5789G>A (p.Arg1930Lys)
NM_017780.4(CHD7):c.57A>C (p.Glu19Asp)
NM_017780.4(CHD7):c.5815C>G (p.Arg1939Gly)
NM_017780.4(CHD7):c.5818C>G (p.Arg1940Gly)
NM_017780.4(CHD7):c.5824C>T (p.Arg1942Trp) rs200441929
NM_017780.4(CHD7):c.5828G>A (p.Arg1943Gln) rs753723769
NM_017780.4(CHD7):c.5833C>G (p.Arg1945Gly)
NM_017780.4(CHD7):c.5848G>A (p.Ala1950Thr) rs201423234
NM_017780.4(CHD7):c.584G>A (p.Arg195His)
NM_017780.4(CHD7):c.5895-3C>T
NM_017780.4(CHD7):c.5895-5A>T
NM_017780.4(CHD7):c.5895-8T>G
NM_017780.4(CHD7):c.5979C>G (p.Asp1993Glu)
NM_017780.4(CHD7):c.602A>G (p.Gln201Arg)
NM_017780.4(CHD7):c.6034G>A (p.Glu2012Lys)
NM_017780.4(CHD7):c.608A>G (p.His203Arg) rs375277827
NM_017780.4(CHD7):c.6098A>G (p.Asp2033Gly) rs369023995
NM_017780.4(CHD7):c.6192C>G (p.Ile2064Met)
NM_017780.4(CHD7):c.6195C>T (p.Arg2065=) rs750835437
NM_017780.4(CHD7):c.6205C>G (p.Leu2069Val)
NM_017780.4(CHD7):c.6236A>C (p.Lys2079Thr) rs377497122
NM_017780.4(CHD7):c.6248C>T (p.Pro2083Leu) rs773859400
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.630G>C (p.Met210Ile)
NM_017780.4(CHD7):c.6349C>T (p.Leu2117Phe)
NM_017780.4(CHD7):c.6376G>T (p.Asp2126Tyr)
NM_017780.4(CHD7):c.6454C>G (p.Gln2152Glu)
NM_017780.4(CHD7):c.6463C>T (p.Pro2155Ser)
NM_017780.4(CHD7):c.6536A>G (p.Glu2179Gly)
NM_017780.4(CHD7):c.6577G>A (p.Glu2193Lys)
NM_017780.4(CHD7):c.6598G>A (p.Gly2200Arg) rs747357928
NM_017780.4(CHD7):c.6619T>C (p.Cys2207Arg)
NM_017780.4(CHD7):c.6670G>A (p.Gly2224Ser)
NM_017780.4(CHD7):c.6673G>A (p.Ala2225Thr) rs374408098
NM_017780.4(CHD7):c.6694A>G (p.Ile2232Val) rs1329751221
NM_017780.4(CHD7):c.6720T>G (p.Asp2240Glu)
NM_017780.4(CHD7):c.676T>C (p.Phe226Leu) rs1294102203
NM_017780.4(CHD7):c.6775G>A (p.Ala2259Thr) rs200806228
NM_017780.4(CHD7):c.6793G>A (p.Gly2265Arg) rs368750638
NM_017780.4(CHD7):c.67G>A (p.Gly23Ser)
NM_017780.4(CHD7):c.6818A>G (p.Asn2273Ser)
NM_017780.4(CHD7):c.6850C>G (p.Arg2284Gly)
NM_017780.4(CHD7):c.6936+6C>T rs762730711
NM_017780.4(CHD7):c.6937-9T>G
NM_017780.4(CHD7):c.6962A>G (p.Asp2321Gly)
NM_017780.4(CHD7):c.6965A>G (p.Asn2322Ser) rs201470035
NM_017780.4(CHD7):c.7015A>G (p.Met2339Val) rs1184188163
NM_017780.4(CHD7):c.7017G>A (p.Met2339Ile)
NM_017780.4(CHD7):c.7018T>C (p.Phe2340Leu) rs766773531
NM_017780.4(CHD7):c.7024T>C (p.Phe2342Leu)
NM_017780.4(CHD7):c.702C>G (p.His234Gln) rs565216093
NM_017780.4(CHD7):c.7043G>A (p.Gly2348Asp) rs754527047
NM_017780.4(CHD7):c.7082G>A (p.Arg2361Lys) rs777753993
NM_017780.4(CHD7):c.7097T>C (p.Leu2366Pro) rs541818422
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) rs142095932
NM_017780.4(CHD7):c.7145C>T (p.Thr2382Met)
NM_017780.4(CHD7):c.7170T>G (p.Asp2390Glu) rs199966549
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.7201A>T (p.Arg2401Trp)
NM_017780.4(CHD7):c.7240_7241delinsTT (p.Ala2414Phe)
NM_017780.4(CHD7):c.7253G>A (p.Arg2418Gln)
NM_017780.4(CHD7):c.7297G>A (p.Val2433Ile) rs766091347
NM_017780.4(CHD7):c.7346G>C (p.Arg2449Thr) rs727503870
NM_017780.4(CHD7):c.7411T>C (p.Ser2471Pro) rs769178123
NM_017780.4(CHD7):c.7414A>G (p.Thr2472Ala) rs372546969
NM_017780.4(CHD7):c.7447G>A (p.Glu2483Lys) rs398124323
NM_017780.4(CHD7):c.7472G>A (p.Arg2491His)
NM_017780.4(CHD7):c.748C>T (p.Arg250Cys)
NM_017780.4(CHD7):c.7516G>C (p.Glu2506Gln)
NM_017780.4(CHD7):c.7522C>T (p.Pro2508Ser)
NM_017780.4(CHD7):c.7537C>T (p.Arg2513Trp) rs529799008
NM_017780.4(CHD7):c.756G>A (p.Ser252=)
NM_017780.4(CHD7):c.7589A>G (p.Lys2530Arg)
NM_017780.4(CHD7):c.7634T>C (p.Phe2545Ser)
NM_017780.4(CHD7):c.7673C>T (p.Pro2558Leu) rs776711005
NM_017780.4(CHD7):c.7682G>A (p.Gly2561Glu)
NM_017780.4(CHD7):c.7702C>T (p.Arg2568Trp) rs775888715
NM_017780.4(CHD7):c.7745G>A (p.Gly2582Glu)
NM_017780.4(CHD7):c.7775T>C (p.Val2592Ala) rs754831330
NM_017780.4(CHD7):c.7844T>C (p.Val2615Ala) rs1586462216
NM_017780.4(CHD7):c.7866A>C (p.Lys2622Asn) rs1586462281
NM_017780.4(CHD7):c.7971+6C>G
NM_017780.4(CHD7):c.7971+6C>T rs769103057
NM_017780.4(CHD7):c.8020G>A (p.Glu2674Lys)
NM_017780.4(CHD7):c.805G>A (p.Val269Ile) rs747972265
NM_017780.4(CHD7):c.8077G>C (p.Gly2693Arg) rs1563673201
NM_017780.4(CHD7):c.8164A>G (p.Lys2722Glu) rs1586467143
NM_017780.4(CHD7):c.8240A>G (p.Asn2747Ser) rs1586467380
NM_017780.4(CHD7):c.8254G>A (p.Gly2752Arg)
NM_017780.4(CHD7):c.8326C>T (p.Pro2776Ser) rs773045619
NM_017780.4(CHD7):c.8332G>A (p.Gly2778Arg) rs1586467620
NM_017780.4(CHD7):c.8365G>A (p.Ala2789Thr)
NM_017780.4(CHD7):c.8366C>T (p.Ala2789Val) rs376934539
NM_017780.4(CHD7):c.83G>A (p.Gly28Asp)
NM_017780.4(CHD7):c.8413G>A (p.Gly2805Ser) rs759567393
NM_017780.4(CHD7):c.8423A>G (p.Asn2808Ser)
NM_017780.4(CHD7):c.8440G>A (p.Gly2814Arg) rs964405365
NM_017780.4(CHD7):c.8492C>G (p.Ser2831Cys) rs1399809223
NM_017780.4(CHD7):c.862C>A (p.Gln288Lys) rs1554581399
NM_017780.4(CHD7):c.8639C>T (p.Pro2880Leu) rs113938624
NM_017780.4(CHD7):c.8640G>A (p.Pro2880=) rs374937585
NM_017780.4(CHD7):c.8644G>A (p.Gly2882Arg)
NM_017780.4(CHD7):c.8663T>C (p.Leu2888Pro) rs764758566
NM_017780.4(CHD7):c.8672A>G (p.Asn2891Ser) rs202039728
NM_017780.4(CHD7):c.8672A>T (p.Asn2891Ile)
NM_017780.4(CHD7):c.8692A>G (p.Met2898Val) rs755028719
NM_017780.4(CHD7):c.8699C>A (p.Pro2900Gln)
NM_017780.4(CHD7):c.8773G>A (p.Ala2925Thr)
NM_017780.4(CHD7):c.8774C>T (p.Ala2925Val) rs1563674763
NM_017780.4(CHD7):c.8786A>G (p.Asn2929Ser) rs1586469053
NM_017780.4(CHD7):c.8792T>C (p.Val2931Ala) rs754831415
NM_017780.4(CHD7):c.8821A>G (p.Lys2941Glu) rs201793562
NM_017780.4(CHD7):c.910A>G (p.Ile304Val)
NM_017780.4(CHD7):c.980G>A (p.Gly327Glu)
NM_017780.4(CHD7):c.986A>G (p.Asn329Ser) rs777040556

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