ClinVar Miner

List of variants reported as likely benign for Nephronophthisis 15 by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 537
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HGVS dbSNP gnomAD frequency
NM_014956.5(CEP164):c.3496G>C (p.Glu1166Gln) rs61745877 0.00242
NM_014956.5(CEP164):c.3032T>C (p.Leu1011Pro) rs138868323 0.00177
NM_014956.5(CEP164):c.3365G>A (p.Arg1122His) rs144910893 0.00134
NM_014956.5(CEP164):c.3332G>A (p.Arg1111His) rs61740738 0.00110
NM_014956.5(CEP164):c.1691C>T (p.Ala564Val) rs144557388 0.00096
NM_014956.5(CEP164):c.3806G>A (p.Arg1269Gln) rs150963269 0.00080
NM_014956.5(CEP164):c.1438C>T (p.Arg480Trp) rs112209873 0.00077
NM_014956.5(CEP164):c.3019C>T (p.Arg1007Cys) rs115387935 0.00076
NM_014956.5(CEP164):c.2021G>A (p.Arg674Gln) rs142184414 0.00075
NM_014956.5(CEP164):c.3717G>A (p.Pro1239=) rs149567170 0.00068
NM_014956.5(CEP164):c.1692G>A (p.Ala564=) rs143512199 0.00058
NM_014956.5(CEP164):c.2617-18G>A rs199987090 0.00055
NM_014956.5(CEP164):c.2844+8A>G rs142545580 0.00052
NM_014956.5(CEP164):c.2617-13A>G rs372968944 0.00041
NM_014956.5(CEP164):c.3435G>A (p.Ala1145=) rs149964584 0.00029
NM_014956.5(CEP164):c.4131G>A (p.Pro1377=) rs141080271 0.00027
NM_014956.5(CEP164):c.553-11C>T rs200692234 0.00026
NM_014956.5(CEP164):c.3610-4A>G rs111915712 0.00025
NM_014956.5(CEP164):c.1152+16C>T rs375703035 0.00024
NM_014956.5(CEP164):c.3183C>A (p.Leu1061=) rs144700973 0.00022
NM_014956.5(CEP164):c.3042A>G (p.Gln1014=) rs149350006 0.00019
NM_014956.5(CEP164):c.315T>C (p.Thr105=) rs147988387 0.00018
NM_014956.5(CEP164):c.1245T>C (p.Phe415=) rs555876739 0.00017
NM_014956.5(CEP164):c.2311A>G (p.Ser771Gly) rs143601082 0.00017
NM_014956.5(CEP164):c.696C>T (p.His232=) rs201189268 0.00017
NM_014956.5(CEP164):c.4144C>T (p.Leu1382=) rs142927104 0.00016
NM_014956.5(CEP164):c.2744G>A (p.Arg915His) rs147802563 0.00014
NM_014956.5(CEP164):c.3912G>A (p.Arg1304=) rs146634951 0.00014
NM_014956.5(CEP164):c.1320C>T (p.Ala440=) rs145815710 0.00011
NM_014956.5(CEP164):c.1401G>A (p.Leu467=) rs138093785 0.00011
NM_014956.5(CEP164):c.3278+11A>G rs761420267 0.00011
NM_014956.5(CEP164):c.3279-20C>T rs375870273 0.00011
NM_014956.5(CEP164):c.534G>A (p.Gln178=) rs148498531 0.00010
NM_014956.5(CEP164):c.3748+17C>T rs373984666 0.00009
NM_014956.5(CEP164):c.4371G>A (p.Val1457=) rs781453124 0.00009
NM_014956.5(CEP164):c.4104C>T (p.Ile1368=) rs371631049 0.00008
NM_014956.5(CEP164):c.2284-8C>G rs761454104 0.00007
NM_014956.5(CEP164):c.2845-6T>G rs201515694 0.00007
NM_014956.5(CEP164):c.2914-20A>G rs201736952 0.00007
NM_014956.5(CEP164):c.3217-8G>A rs374823549 0.00007
NM_014956.5(CEP164):c.3749-15C>T rs370837032 0.00007
NM_014956.5(CEP164):c.1935-20G>A rs200518210 0.00006
NM_014956.5(CEP164):c.2067-15A>G rs767292266 0.00006
NM_014956.5(CEP164):c.231C>T (p.Phe77=) rs538937913 0.00006
NM_014956.5(CEP164):c.3867G>A (p.Ser1289=) rs752083526 0.00006
NM_014956.5(CEP164):c.501G>A (p.Val167=) rs770213078 0.00006
NM_014956.5(CEP164):c.552+8C>T rs368573245 0.00006
NM_014956.5(CEP164):c.1410-12C>T rs779681613 0.00005
NM_014956.5(CEP164):c.237C>T (p.Asn79=) rs149281923 0.00005
NM_014956.5(CEP164):c.1158G>A (p.Leu386=) rs199723361 0.00004
NM_014956.5(CEP164):c.1380G>A (p.Gln460=) rs559473249 0.00004
NM_014956.5(CEP164):c.1431C>T (p.His477=) rs539441637 0.00004
NM_014956.5(CEP164):c.1506C>T (p.Pro502=) rs369224299 0.00004
NM_014956.5(CEP164):c.150G>A (p.Ala50=) rs367761983 0.00004
NM_014956.5(CEP164):c.2086C>T (p.Leu696=) rs934960506 0.00004
NM_014956.5(CEP164):c.2340A>G (p.Ser780=) rs908435695 0.00004
NM_014956.5(CEP164):c.2379G>A (p.Gln793=) rs190692742 0.00004
NM_014956.5(CEP164):c.2494-9C>T rs373873905 0.00004
NM_014956.5(CEP164):c.2517G>A (p.Lys839=) rs760170526 0.00004
NM_014956.5(CEP164):c.2853C>T (p.Thr951=) rs140641176 0.00004
NM_014956.5(CEP164):c.3012G>T (p.Leu1004=) rs368609037 0.00004
NM_014956.5(CEP164):c.3786C>T (p.His1262=) rs373372717 0.00004
NM_014956.5(CEP164):c.4096+15G>A rs200690593 0.00004
NM_014956.5(CEP164):c.4265G>A (p.Arg1422His) rs74653460 0.00004
NM_014956.5(CEP164):c.4287-11C>T rs199682751 0.00004
NM_014956.5(CEP164):c.4323T>C (p.Thr1441=) rs992995160 0.00004
NM_014956.5(CEP164):c.688-8del rs1304697768 0.00004
NM_014956.5(CEP164):c.1233+9G>A rs1042105817 0.00003
NM_014956.5(CEP164):c.129A>G (p.Glu43=) rs762888111 0.00003
NM_014956.5(CEP164):c.2583G>A (p.Val861=) rs747640551 0.00003
NM_014956.5(CEP164):c.2760+10C>T rs1441985433 0.00003
NM_014956.5(CEP164):c.3045G>A (p.Val1015=) rs201873800 0.00003
NM_014956.5(CEP164):c.3278+16C>G rs900461612 0.00003
NM_014956.5(CEP164):c.3279-5T>C rs768653923 0.00003
NM_014956.5(CEP164):c.3501+7A>G rs569367999 0.00003
NM_014956.5(CEP164):c.3586T>C (p.Leu1196=) rs759744930 0.00003
NM_014956.5(CEP164):c.390G>A (p.Ser130=) rs773045906 0.00003
NM_014956.5(CEP164):c.4097-9C>T rs1362686273 0.00003
NM_014956.5(CEP164):c.4107G>A (p.Pro1369=) rs774656364 0.00003
NM_014956.5(CEP164):c.1191C>G (p.Leu397=) rs763602671 0.00002
NM_014956.5(CEP164):c.1569C>G (p.Ser523=) rs747829353 0.00002
NM_014956.5(CEP164):c.1704C>T (p.Thr568=) rs755780242 0.00002
NM_014956.5(CEP164):c.2196G>A (p.Ser732=) rs139610925 0.00002
NM_014956.5(CEP164):c.2208G>A (p.Glu736=) rs762963600 0.00002
NM_014956.5(CEP164):c.2283+14G>T rs545525973 0.00002
NM_014956.5(CEP164):c.2367C>G (p.Val789=) rs747171653 0.00002
NM_014956.5(CEP164):c.2541T>C (p.His847=) rs947190507 0.00002
NM_014956.5(CEP164):c.2631G>A (p.Arg877=) rs1339335729 0.00002
NM_014956.5(CEP164):c.3217-12A>G rs779406287 0.00002
NM_014956.5(CEP164):c.3246C>T (p.Leu1082=) rs201698235 0.00002
NM_014956.5(CEP164):c.3663C>T (p.Phe1221=) rs150819563 0.00002
NM_014956.5(CEP164):c.3882C>T (p.Leu1294=) rs768274034 0.00002
NM_014956.5(CEP164):c.396C>T (p.Ala132=) rs145551039 0.00002
NM_014956.5(CEP164):c.4023G>A (p.Gly1341=) rs748085058 0.00002
NM_014956.5(CEP164):c.4086G>A (p.Lys1362=) rs200916484 0.00002
NM_014956.5(CEP164):c.4096+18C>T rs533863973 0.00002
NM_014956.5(CEP164):c.510G>A (p.Gly170=) rs145771994 0.00002
NM_014956.5(CEP164):c.552+9G>A rs1278586123 0.00002
NM_014956.5(CEP164):c.714T>G (p.Leu238=) rs745843938 0.00002
NM_014956.5(CEP164):c.762T>C (p.Tyr254=) rs766308731 0.00002
NM_014956.5(CEP164):c.1047G>A (p.Glu349=) rs777528550 0.00001
NM_014956.5(CEP164):c.1071G>A (p.Glu357=) rs1247651761 0.00001
NM_014956.5(CEP164):c.1104A>G (p.Pro368=) rs2042179714 0.00001
NM_014956.5(CEP164):c.1143C>T (p.Asp381=) rs375647094 0.00001
NM_014956.5(CEP164):c.1152+8A>T rs1277594291 0.00001
NM_014956.5(CEP164):c.1153-18G>A rs1490620046 0.00001
NM_014956.5(CEP164):c.1239C>T (p.Phe413=) rs535461023 0.00001
NM_014956.5(CEP164):c.1317+11G>A rs370606132 0.00001
NM_014956.5(CEP164):c.1318-14C>T rs1397653828 0.00001
NM_014956.5(CEP164):c.1326A>G (p.Gln442=) rs1052978293 0.00001
NM_014956.5(CEP164):c.1409+17G>T rs773833785 0.00001
NM_014956.5(CEP164):c.1413A>G (p.Leu471=) rs1196721000 0.00001
NM_014956.5(CEP164):c.1479G>A (p.Glu493=) rs778285049 0.00001
NM_014956.5(CEP164):c.1577+17G>A rs1382927463 0.00001
NM_014956.5(CEP164):c.1716T>A (p.Ser572=) rs2043508189 0.00001
NM_014956.5(CEP164):c.171A>G (p.Pro57=) rs2038560708 0.00001
NM_014956.5(CEP164):c.1809C>T (p.Leu603=) rs372777703 0.00001
NM_014956.5(CEP164):c.1934+12C>T rs952168733 0.00001
NM_014956.5(CEP164):c.194+15G>A rs1423887740 0.00001
NM_014956.5(CEP164):c.194+19C>T rs374708089 0.00001
NM_014956.5(CEP164):c.2118A>G (p.Gln706=) rs771918921 0.00001
NM_014956.5(CEP164):c.2268A>G (p.Glu756=) rs750395570 0.00001
NM_014956.5(CEP164):c.2284-18C>T rs1423509328 0.00001
NM_014956.5(CEP164):c.2448C>T (p.His816=) rs183208808 0.00001
NM_014956.5(CEP164):c.2469T>C (p.Tyr823=) rs779997647 0.00001
NM_014956.5(CEP164):c.2493+16T>C rs772114437 0.00001
NM_014956.5(CEP164):c.2616+18C>T rs754039492 0.00001
NM_014956.5(CEP164):c.2736C>T (p.Asp912=) rs368860298 0.00001
NM_014956.5(CEP164):c.276T>C (p.Tyr92=) rs373403222 0.00001
NM_014956.5(CEP164):c.2845-15T>C rs757233980 0.00001
NM_014956.5(CEP164):c.2850G>A (p.Glu950=) rs942030231 0.00001
NM_014956.5(CEP164):c.2914-9T>G rs201787792 0.00001
NM_014956.5(CEP164):c.3093C>T (p.Ser1031=) rs766181500 0.00001
NM_014956.5(CEP164):c.3159T>G (p.Ala1053=) rs2045422912 0.00001
NM_014956.5(CEP164):c.3162C>T (p.Ser1054=) rs777528751 0.00001
NM_014956.5(CEP164):c.3217-18T>C rs1474346753 0.00001
NM_014956.5(CEP164):c.3234G>A (p.Val1078=) rs929056136 0.00001
NM_014956.5(CEP164):c.3237T>G (p.Ser1079=) rs780381724 0.00001
NM_014956.5(CEP164):c.3278+15C>A rs2045507329 0.00001
NM_014956.5(CEP164):c.3279-12C>T rs749577674 0.00001
NM_014956.5(CEP164):c.3402C>T (p.Ala1134=) rs779234423 0.00001
NM_014956.5(CEP164):c.3531G>A (p.Ser1177=) rs776927406 0.00001
NM_014956.5(CEP164):c.3546C>G (p.Gly1182=) rs1412204537 0.00001
NM_014956.5(CEP164):c.3558G>A (p.Leu1186=) rs1295395116 0.00001
NM_014956.5(CEP164):c.3681C>T (p.Asp1227=) rs371592315 0.00001
NM_014956.5(CEP164):c.3749-4T>C rs1198441378 0.00001
NM_014956.5(CEP164):c.3873G>A (p.Pro1291=) rs777863291 0.00001
NM_014956.5(CEP164):c.3876G>A (p.Pro1292=) rs1319957926 0.00001
NM_014956.5(CEP164):c.3888C>T (p.Ser1296=) rs2047118133 0.00001
NM_014956.5(CEP164):c.394-16G>A rs367677064 0.00001
NM_014956.5(CEP164):c.394-18A>G rs201463212 0.00001
NM_014956.5(CEP164):c.3993C>G (p.Ser1331=) rs768029564 0.00001
NM_014956.5(CEP164):c.4163+13G>C rs981960517 0.00001
NM_014956.5(CEP164):c.4164-12C>T rs1003217826 0.00001
NM_014956.5(CEP164):c.4180C>T (p.Leu1394=) rs895081745 0.00001
NM_014956.5(CEP164):c.4233C>A (p.Gly1411=) rs779295738 0.00001
NM_014956.5(CEP164):c.4248C>T (p.Asn1416=) rs1367798627 0.00001
NM_014956.5(CEP164):c.504C>T (p.Ser168=) rs2041032743 0.00001
NM_014956.5(CEP164):c.552+16T>C rs753063818 0.00001
NM_014956.5(CEP164):c.552+19G>A rs756643754 0.00001
NM_014956.5(CEP164):c.591T>C (p.Gly197=) rs1401888374 0.00001
NM_014956.5(CEP164):c.627C>T (p.Leu209=) rs754357397 0.00001
NM_014956.5(CEP164):c.900G>C (p.Gly300=) rs754494197 0.00001
NM_014956.5(CEP164):c.1017T>C (p.Pro339=)
NM_014956.5(CEP164):c.1035G>A (p.Lys345=)
NM_014956.5(CEP164):c.1116T>G (p.Ala372=) rs2042180843
NM_014956.5(CEP164):c.1123C>T (p.Leu375=)
NM_014956.5(CEP164):c.1152+15C>T rs2135919720
NM_014956.5(CEP164):c.1152+18A>G
NM_014956.5(CEP164):c.1153-10G>A
NM_014956.5(CEP164):c.1153-15G>A
NM_014956.5(CEP164):c.1153-15G>T rs372749388
NM_014956.5(CEP164):c.1153-4C>T
NM_014956.5(CEP164):c.1155A>G (p.Glu385=) rs1318886330
NM_014956.5(CEP164):c.1164T>C (p.Ile388=)
NM_014956.5(CEP164):c.1194A>T (p.Ser398=)
NM_014956.5(CEP164):c.1215C>T (p.Pro405=)
NM_014956.5(CEP164):c.1230C>T (p.Gly410=)
NM_014956.5(CEP164):c.1233+16G>A
NM_014956.5(CEP164):c.1233+18del rs2135973306
NM_014956.5(CEP164):c.1233+19C>T
NM_014956.5(CEP164):c.1233+7T>G
NM_014956.5(CEP164):c.1234-16T>C
NM_014956.5(CEP164):c.1257C>T (p.Ile419=) rs2136010416
NM_014956.5(CEP164):c.1260G>A (p.Ser420=)
NM_014956.5(CEP164):c.1267C>T (p.Leu423=)
NM_014956.5(CEP164):c.1270C>T (p.Leu424=)
NM_014956.5(CEP164):c.12A>G (p.Arg4=)
NM_014956.5(CEP164):c.1314G>A (p.Arg438=)
NM_014956.5(CEP164):c.1317+10T>G
NM_014956.5(CEP164):c.1317+15G>A rs2136012033
NM_014956.5(CEP164):c.1317+16T>G
NM_014956.5(CEP164):c.1318-9C>G rs576006225
NM_014956.5(CEP164):c.1323G>A (p.Gln441=)
NM_014956.5(CEP164):c.1347G>A (p.Lys449=)
NM_014956.5(CEP164):c.1353C>T (p.Asp451=)
NM_014956.5(CEP164):c.1362C>T (p.Ser454=) rs1163809267
NM_014956.5(CEP164):c.1409+11T>A
NM_014956.5(CEP164):c.1409+15A>G rs2136118708
NM_014956.5(CEP164):c.1410-11G>T rs537713728
NM_014956.5(CEP164):c.1410-15G>T
NM_014956.5(CEP164):c.1410-17C>T
NM_014956.5(CEP164):c.1410-20G>A rs749252841
NM_014956.5(CEP164):c.1452C>T (p.Pro484=) rs373736623
NM_014956.5(CEP164):c.1491C>T (p.Gly497=) rs762218626
NM_014956.5(CEP164):c.1494C>T (p.Pro498=)
NM_014956.5(CEP164):c.1530T>C (p.Leu510=)
NM_014956.5(CEP164):c.1566G>C (p.Leu522=)
NM_014956.5(CEP164):c.1577+13G>A
NM_014956.5(CEP164):c.1577+19A>T
NM_014956.5(CEP164):c.1577+20T>C
NM_014956.5(CEP164):c.1577+9G>A rs953315440
NM_014956.5(CEP164):c.1578-17T>G rs2136164009
NM_014956.5(CEP164):c.1578-4C>T
NM_014956.5(CEP164):c.1578-6A>C
NM_014956.5(CEP164):c.1578-6A>G
NM_014956.5(CEP164):c.15C>T (p.Pro5=)
NM_014956.5(CEP164):c.1608T>C (p.Cys536=) rs750310170
NM_014956.5(CEP164):c.162C>T (p.Ile54=)
NM_014956.5(CEP164):c.1638C>G (p.Ala546=) rs144199348
NM_014956.5(CEP164):c.1638C>T (p.Ala546=) rs144199348
NM_014956.5(CEP164):c.1645C>T (p.Leu549=)
NM_014956.5(CEP164):c.1647G>A (p.Leu549=) rs1248770335
NM_014956.5(CEP164):c.165G>C (p.Val55=)
NM_014956.5(CEP164):c.1662A>G (p.Glu554=)
NM_014956.5(CEP164):c.1707G>T (p.Pro569=)
NM_014956.5(CEP164):c.1713C>G (p.Val571=)
NM_014956.5(CEP164):c.1724+11G>T
NM_014956.5(CEP164):c.1724+15TG[2] rs2136168451
NM_014956.5(CEP164):c.1724+18G>A rs763203356
NM_014956.5(CEP164):c.1725-11A>C
NM_014956.5(CEP164):c.1725-13C>T
NM_014956.5(CEP164):c.1725-4G>A rs2136244171
NM_014956.5(CEP164):c.1749C>G (p.Pro583=)
NM_014956.5(CEP164):c.1776A>G (p.Leu592=)
NM_014956.5(CEP164):c.1830G>C (p.Leu610=)
NM_014956.5(CEP164):c.1839C>T (p.Ser613=)
NM_014956.5(CEP164):c.183G>A (p.Glu61=) rs745920052
NM_014956.5(CEP164):c.1857G>A (p.Gln619=)
NM_014956.5(CEP164):c.1863G>A (p.Leu621=) rs775253337
NM_014956.5(CEP164):c.1905G>A (p.Arg635=)
NM_014956.5(CEP164):c.192A>C (p.Pro64=)
NM_014956.5(CEP164):c.192A>G (p.Pro64=)
NM_014956.5(CEP164):c.1934+14C>T rs2136247656
NM_014956.5(CEP164):c.1934+8C>G
NM_014956.5(CEP164):c.1935-14C>T rs2044543490
NM_014956.5(CEP164):c.1935-15del
NM_014956.5(CEP164):c.1935-8C>T
NM_014956.5(CEP164):c.194+10C>T rs1468150420
NM_014956.5(CEP164):c.194+11A>G
NM_014956.5(CEP164):c.194+12G>A rs749099996
NM_014956.5(CEP164):c.194+15G>T rs1423887740
NM_014956.5(CEP164):c.194+16G>T rs574862830
NM_014956.5(CEP164):c.194+19C>A
NM_014956.5(CEP164):c.194+20_194+25del
NM_014956.5(CEP164):c.194+7C>A
NM_014956.5(CEP164):c.194+9G>C
NM_014956.5(CEP164):c.1947G>A (p.Glu649=)
NM_014956.5(CEP164):c.1980C>A (p.Ala660=)
NM_014956.5(CEP164):c.1983G>T (p.Arg661=)
NM_014956.5(CEP164):c.1998A>G (p.Glu666=)
NM_014956.5(CEP164):c.2025T>C (p.Ala675=)
NM_014956.5(CEP164):c.2066+11_2066+12del
NM_014956.5(CEP164):c.2066+20T>C rs2136319924
NM_014956.5(CEP164):c.2066+9G>A rs374648188
NM_014956.5(CEP164):c.2067-16C>T rs758674918
NM_014956.5(CEP164):c.2067-6A>G
NM_014956.5(CEP164):c.2085C>T (p.Ser695=)
NM_014956.5(CEP164):c.2133G>A (p.Arg711=)
NM_014956.5(CEP164):c.2169G>A (p.Glu723=)
NM_014956.5(CEP164):c.2184G>A (p.Glu728=)
NM_014956.5(CEP164):c.2199G>A (p.Glu733=) rs2136324303
NM_014956.5(CEP164):c.2202G>A (p.Lys734=)
NM_014956.5(CEP164):c.2229A>G (p.Ala743=)
NM_014956.5(CEP164):c.2238G>A (p.Lys746=)
NM_014956.5(CEP164):c.2259G>A (p.Glu753=) rs761803143
NM_014956.5(CEP164):c.2284-16C>T
NM_014956.5(CEP164):c.2284-6C>T
NM_014956.5(CEP164):c.2292A>C (p.Ala764=)
NM_014956.5(CEP164):c.2295G>A (p.Thr765=)
NM_014956.5(CEP164):c.2295G>T (p.Thr765=)
NM_014956.5(CEP164):c.2320C>T (p.Leu774=)
NM_014956.5(CEP164):c.2341T>C (p.Leu781=)
NM_014956.5(CEP164):c.2358G>A (p.Arg786=) rs2136351691
NM_014956.5(CEP164):c.2361+12C>T
NM_014956.5(CEP164):c.2361+15C>T rs775505362
NM_014956.5(CEP164):c.2361+16C>T rs2044762724
NM_014956.5(CEP164):c.2361+19G>A
NM_014956.5(CEP164):c.2362-10dup rs1565579377
NM_014956.5(CEP164):c.2362-5_2362-3del
NM_014956.5(CEP164):c.2362-8C>T
NM_014956.5(CEP164):c.2367C>T (p.Val789=) rs747171653
NM_014956.5(CEP164):c.2376C>T (p.Leu792=) rs2044797581
NM_014956.5(CEP164):c.2418G>A (p.Gln806=) rs759540777
NM_014956.5(CEP164):c.2427G>A (p.Lys809=) rs201002987
NM_014956.5(CEP164):c.2439A>G (p.Gln813=)
NM_014956.5(CEP164):c.2445G>A (p.Glu815=)
NM_014956.5(CEP164):c.2466T>G (p.Ser822=) rs563608251
NM_014956.5(CEP164):c.2478T>G (p.Ala826=) rs2136360090
NM_014956.5(CEP164):c.2490C>T (p.His830=)
NM_014956.5(CEP164):c.2493+7G>T
NM_014956.5(CEP164):c.2493+8C>T
NM_014956.5(CEP164):c.2505C>T (p.Leu835=) rs1368347260
NM_014956.5(CEP164):c.2506C>T (p.Leu836=) rs2044887722
NM_014956.5(CEP164):c.2509C>A (p.Arg837=)
NM_014956.5(CEP164):c.2519G>T (p.Arg840Leu) rs201901144
NM_014956.5(CEP164):c.2529G>T (p.Val843=)
NM_014956.5(CEP164):c.2601G>A (p.Glu867=)
NM_014956.5(CEP164):c.2604G>A (p.Gln868=)
NM_014956.5(CEP164):c.2607T>C (p.Tyr869=)
NM_014956.5(CEP164):c.2613T>C (p.Ala871=) rs768196435
NM_014956.5(CEP164):c.2616+11C>G
NM_014956.5(CEP164):c.2616+11C>T
NM_014956.5(CEP164):c.2616+12A>G
NM_014956.5(CEP164):c.2616+15T>G
NM_014956.5(CEP164):c.2616+16C>A
NM_014956.5(CEP164):c.2617-11C>G
NM_014956.5(CEP164):c.2617-17G>A
NM_014956.5(CEP164):c.2617-17G>T
NM_014956.5(CEP164):c.2620A>C (p.Arg874=)
NM_014956.5(CEP164):c.2625G>A (p.Lys875=) rs953747200
NM_014956.5(CEP164):c.2671C>T (p.Leu891=)
NM_014956.5(CEP164):c.267C>T (p.Asp89=)
NM_014956.5(CEP164):c.2685T>C (p.His895=) rs2136419237
NM_014956.5(CEP164):c.2688A>G (p.Glu896=)
NM_014956.5(CEP164):c.2697G>A (p.Leu899=)
NM_014956.5(CEP164):c.270A>G (p.Glu90=)
NM_014956.5(CEP164):c.2724G>A (p.Lys908=)
NM_014956.5(CEP164):c.2746C>A (p.Arg916=) rs1055666351
NM_014956.5(CEP164):c.2754G>A (p.Arg918=)
NM_014956.5(CEP164):c.2760+13G>A
NM_014956.5(CEP164):c.2760+18G>T
NM_014956.5(CEP164):c.2760+19G>C
NM_014956.5(CEP164):c.2761-12C>G
NM_014956.5(CEP164):c.2769G>A (p.Lys923=) rs758053625
NM_014956.5(CEP164):c.2781A>G (p.Leu927=)
NM_014956.5(CEP164):c.2784G>A (p.Glu928=)
NM_014956.5(CEP164):c.2793T>G (p.Leu931=)
NM_014956.5(CEP164):c.282C>T (p.Ser94=)
NM_014956.5(CEP164):c.2844+13C>T
NM_014956.5(CEP164):c.2844+20C>T
NM_014956.5(CEP164):c.2845-7C>A
NM_014956.5(CEP164):c.2845-9C>G
NM_014956.5(CEP164):c.2845-9C>T
NM_014956.5(CEP164):c.2859G>A (p.Arg953=)
NM_014956.5(CEP164):c.2913+10C>T rs1221685717
NM_014956.5(CEP164):c.2913+20C>T
NM_014956.5(CEP164):c.2914-13C>T rs370773217
NM_014956.5(CEP164):c.2914-14C>T
NM_014956.5(CEP164):c.2914-4C>T
NM_014956.5(CEP164):c.2914-5C>T rs2136450157
NM_014956.5(CEP164):c.2914-6C>T
NM_014956.5(CEP164):c.2937G>A (p.Gln979=) rs2136450553
NM_014956.5(CEP164):c.2946G>A (p.Glu982=)
NM_014956.5(CEP164):c.2970G>A (p.Leu990=)
NM_014956.5(CEP164):c.2971T>C (p.Leu991=)
NM_014956.5(CEP164):c.2985G>A (p.Gln995=)
NM_014956.5(CEP164):c.2991C>G (p.Leu997=)
NM_014956.5(CEP164):c.2991C>T (p.Leu997=) rs765549940
NM_014956.5(CEP164):c.3039C>G (p.Ser1013=) rs778620459
NM_014956.5(CEP164):c.3089+10G>A
NM_014956.5(CEP164):c.3089+11C>A rs773782390
NM_014956.5(CEP164):c.3089+16T>C
NM_014956.5(CEP164):c.3089+19A>C
NM_014956.5(CEP164):c.3090-10C>G
NM_014956.5(CEP164):c.3096G>A (p.Leu1032=)
NM_014956.5(CEP164):c.3111A>G (p.Gln1037=)
NM_014956.5(CEP164):c.3126G>A (p.Leu1042=)
NM_014956.5(CEP164):c.3144T>A (p.Val1048=) rs886038608
NM_014956.5(CEP164):c.3216+10G>C rs768750499
NM_014956.5(CEP164):c.3217-19T>C
NM_014956.5(CEP164):c.3217-20T>A
NM_014956.5(CEP164):c.321G>C (p.Gly107=)
NM_014956.5(CEP164):c.3270C>T (p.Tyr1090=)
NM_014956.5(CEP164):c.3278+12T>C rs2136483935
NM_014956.5(CEP164):c.3279-12C>A
NM_014956.5(CEP164):c.3279-7G>A
NM_014956.5(CEP164):c.3279-7G>T
NM_014956.5(CEP164):c.3279-8T>C rs771735947
NM_014956.5(CEP164):c.3279-8_3279-3del rs2136498231
NM_014956.5(CEP164):c.3285C>T (p.Ser1095=)
NM_014956.5(CEP164):c.3294T>C (p.Asn1098=)
NM_014956.5(CEP164):c.3297C>G (p.Val1099=)
NM_014956.5(CEP164):c.3303C>T (p.His1101=) rs2136499348
NM_014956.5(CEP164):c.3324A>G (p.Val1108=)
NM_014956.5(CEP164):c.3336T>C (p.Ser1112=)
NM_014956.5(CEP164):c.333G>A (p.Lys111=) rs568554283
NM_014956.5(CEP164):c.3373C>A (p.Arg1125=) rs372830445
NM_014956.5(CEP164):c.3387A>G (p.Thr1129=) rs2136502466
NM_014956.5(CEP164):c.3396A>G (p.Lys1132=)
NM_014956.5(CEP164):c.339A>G (p.Lys113=) rs1443066781
NM_014956.5(CEP164):c.3411T>C (p.His1137=) rs2045591121
NM_014956.5(CEP164):c.3426G>A (p.Leu1142=)
NM_014956.5(CEP164):c.3435G>T (p.Ala1145=) rs149964584
NM_014956.5(CEP164):c.3459A>G (p.Pro1153=) rs1168571708
NM_014956.5(CEP164):c.3471C>A (p.Ala1157=) rs1045099586
NM_014956.5(CEP164):c.3471C>T (p.Ala1157=)
NM_014956.5(CEP164):c.3501+17A>G
NM_014956.5(CEP164):c.3501+8G>A rs568399224
NM_014956.5(CEP164):c.3502-12C>T
NM_014956.5(CEP164):c.3502-14C>T
NM_014956.5(CEP164):c.3502-6C>T
NM_014956.5(CEP164):c.3510G>A (p.Arg1170=) rs2136879549
NM_014956.5(CEP164):c.3534C>T (p.Ala1178=)
NM_014956.5(CEP164):c.3538C>A (p.Arg1180=) rs557730163
NM_014956.5(CEP164):c.3543A>G (p.Lys1181=)
NM_014956.5(CEP164):c.3549C>T (p.His1183=)
NM_014956.5(CEP164):c.3570G>A (p.Glu1190=)
NM_014956.5(CEP164):c.3579G>A (p.Leu1193=)
NM_014956.5(CEP164):c.3609+20T>A
NM_014956.5(CEP164):c.3610-11T>C
NM_014956.5(CEP164):c.3610-13C>T
NM_014956.5(CEP164):c.3610-19T>G
NM_014956.5(CEP164):c.3610-5C>T
NM_014956.5(CEP164):c.3610-8C>T
NM_014956.5(CEP164):c.3654A>G (p.Ala1218=)
NM_014956.5(CEP164):c.3684C>T (p.Ser1228=)
NM_014956.5(CEP164):c.36G>T (p.Leu12=)
NM_014956.5(CEP164):c.3708T>C (p.Ser1236=) rs1457505922
NM_014956.5(CEP164):c.3738G>A (p.Arg1246=)
NM_014956.5(CEP164):c.3748+11G>A
NM_014956.5(CEP164):c.3748+17C>A rs373984666
NM_014956.5(CEP164):c.3748+7G>A rs767096820
NM_014956.5(CEP164):c.3748+7G>C rs767096820
NM_014956.5(CEP164):c.3748+7G>T rs767096820
NM_014956.5(CEP164):c.3750C>T (p.Ile1250=)
NM_014956.5(CEP164):c.3762G>A (p.Pro1254=)
NM_014956.5(CEP164):c.3768C>T (p.Leu1256=) rs779372158
NM_014956.5(CEP164):c.3771C>T (p.Thr1257=)
NM_014956.5(CEP164):c.3789G>A (p.Gly1263=)
NM_014956.5(CEP164):c.378C>G (p.Pro126=)
NM_014956.5(CEP164):c.3798C>T (p.His1266=)
NM_014956.5(CEP164):c.3801C>T (p.Ser1267=) rs2136934357
NM_014956.5(CEP164):c.380C>A (p.Pro127His) rs143659874
NM_014956.5(CEP164):c.380C>T (p.Pro127Leu) rs143659874
NM_014956.5(CEP164):c.3819C>T (p.Ser1273=)
NM_014956.5(CEP164):c.381C>A (p.Pro127=) rs375951540
NM_014956.5(CEP164):c.381C>G (p.Pro127=) rs375951540
NM_014956.5(CEP164):c.381C>T (p.Pro127=)
NM_014956.5(CEP164):c.3837C>T (p.Leu1279=)
NM_014956.5(CEP164):c.3843C>T (p.Ile1281=) rs2136935341
NM_014956.5(CEP164):c.3855C>T (p.Leu1285=)
NM_014956.5(CEP164):c.3870G>A (p.Pro1290=)
NM_014956.5(CEP164):c.387T>C (p.Ser129=)
NM_014956.5(CEP164):c.394-18A>C rs201463212
NM_014956.5(CEP164):c.394-6G>T rs2135688046
NM_014956.5(CEP164):c.394-7T>C rs2135687974
NM_014956.5(CEP164):c.394-9G>A
NM_014956.5(CEP164):c.3951C>T (p.Ser1317=)
NM_014956.5(CEP164):c.3975A>G (p.Ser1325=)
NM_014956.5(CEP164):c.3990G>A (p.Thr1330=)
NM_014956.5(CEP164):c.3996C>T (p.Thr1332=) rs199648719
NM_014956.5(CEP164):c.4059C>T (p.Asp1353=)
NM_014956.5(CEP164):c.4096+12T>A
NM_014956.5(CEP164):c.4096+17G>A
NM_014956.5(CEP164):c.4097-13C>T
NM_014956.5(CEP164):c.4097-18G>C rs2136968340
NM_014956.5(CEP164):c.4113C>T (p.Leu1371=) rs998316543
NM_014956.5(CEP164):c.4122C>T (p.Ser1374=)
NM_014956.5(CEP164):c.4131G>T (p.Pro1377=) rs141080271
NM_014956.5(CEP164):c.4132C>T (p.Leu1378=)
NM_014956.5(CEP164):c.4137G>A (p.Glu1379=) rs2136970360
NM_014956.5(CEP164):c.4140C>T (p.Ser1380=) rs746720978
NM_014956.5(CEP164):c.4152C>T (p.Tyr1384=)
NM_014956.5(CEP164):c.4163+14G>A
NM_014956.5(CEP164):c.4163+16G>T rs2136971795
NM_014956.5(CEP164):c.4163+7C>T
NM_014956.5(CEP164):c.4164-10T>G
NM_014956.5(CEP164):c.4164-17C>T
NM_014956.5(CEP164):c.4164-9C>A
NM_014956.5(CEP164):c.4203C>T (p.Val1401=)
NM_014956.5(CEP164):c.4212G>C (p.Ala1404=) rs369998799
NM_014956.5(CEP164):c.4224C>T (p.Thr1408=) rs1423587348
NM_014956.5(CEP164):c.4249C>A (p.Arg1417=) rs745904143
NM_014956.5(CEP164):c.4260G>A (p.Leu1420=)
NM_014956.5(CEP164):c.4260G>T (p.Leu1420=)
NM_014956.5(CEP164):c.4269C>G (p.Val1423=)
NM_014956.5(CEP164):c.4281C>T (p.Pro1427=)
NM_014956.5(CEP164):c.4284G>A (p.Arg1428=) rs774452782
NM_014956.5(CEP164):c.4286+12C>T
NM_014956.5(CEP164):c.4286+16G>T
NM_014956.5(CEP164):c.4287-6G>A rs2137006602
NM_014956.5(CEP164):c.4299G>C (p.Ser1433=)
NM_014956.5(CEP164):c.429T>C (p.Pro143=)
NM_014956.5(CEP164):c.4308C>G (p.Pro1436=)
NM_014956.5(CEP164):c.4356C>T (p.His1452=)
NM_014956.5(CEP164):c.4362A>G (p.Arg1454=)
NM_014956.5(CEP164):c.444T>G (p.Ala148=) rs2135689461
NM_014956.5(CEP164):c.456T>C (p.Gly152=) rs2135689791
NM_014956.5(CEP164):c.495A>G (p.Gln165=)
NM_014956.5(CEP164):c.516A>G (p.Ser172=) rs2135691137
NM_014956.5(CEP164):c.519G>A (p.Val173=) rs2135691164
NM_014956.5(CEP164):c.522G>A (p.Glu174=)
NM_014956.5(CEP164):c.528A>T (p.Gly176=)
NM_014956.5(CEP164):c.552+14C>G rs754626177
NM_014956.5(CEP164):c.552+14C>T
NM_014956.5(CEP164):c.553-14_553-12del
NM_014956.5(CEP164):c.553-7T>C
NM_014956.5(CEP164):c.553-8T>C rs2135702598
NM_014956.5(CEP164):c.561G>A (p.Gln187=)
NM_014956.5(CEP164):c.564T>C (p.Gly188=) rs2135703118
NM_014956.5(CEP164):c.567C>T (p.Leu189=)
NM_014956.5(CEP164):c.573C>T (p.Thr191=)
NM_014956.5(CEP164):c.595T>C (p.Leu199=)
NM_014956.5(CEP164):c.687+12G>A
NM_014956.5(CEP164):c.687+16T>C
NM_014956.5(CEP164):c.687+19C>T
NM_014956.5(CEP164):c.687+7A>G
NM_014956.5(CEP164):c.687+8T>C
NM_014956.5(CEP164):c.688-15C>T rs2135722788
NM_014956.5(CEP164):c.688-17A>C
NM_014956.5(CEP164):c.688-4C>T
NM_014956.5(CEP164):c.693C>G (p.Val231=)
NM_014956.5(CEP164):c.705T>C (p.Ser235=) rs1316790259
NM_014956.5(CEP164):c.708G>A (p.Glu236=) rs770827539
NM_014956.5(CEP164):c.720C>T (p.Asn240=)
NM_014956.5(CEP164):c.765+12A>G
NM_014956.5(CEP164):c.765+17C>T
NM_014956.5(CEP164):c.765+19A>G
NM_014956.5(CEP164):c.765+20C>T
NM_014956.5(CEP164):c.765+7_765+16del
NM_014956.5(CEP164):c.765+8C>T rs2041253275
NM_014956.5(CEP164):c.766-15T>C
NM_014956.5(CEP164):c.766-16_766-9del
NM_014956.5(CEP164):c.766-5C>T
NM_014956.5(CEP164):c.771T>C (p.Ser257=)
NM_014956.5(CEP164):c.82+11dup
NM_014956.5(CEP164):c.82+16del
NM_014956.5(CEP164):c.82+19G>C
NM_014956.5(CEP164):c.83-15T>G
NM_014956.5(CEP164):c.852C>T (p.Pro284=)
NM_014956.5(CEP164):c.861A>C (p.Pro287=)
NM_014956.5(CEP164):c.867A>G (p.Ala289=)
NM_014956.5(CEP164):c.942G>A (p.Glu314=) rs2042169087
NM_014956.5(CEP164):c.948T>C (p.Asn316=)
NM_014956.5(CEP164):c.954G>A (p.Lys318=) rs1311734878
NM_014956.5(CEP164):c.99C>G (p.Ala33=)

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