ClinVar Miner

List of variants in gene SUN1 studied for Emery-Dreifuss muscular dystrophy

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Gene type:
ClinVar version:
Total variants: 476
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HGVS dbSNP gnomAD frequency
NM_001130965.3(SUN1):c.352C>T (p.His118Tyr) rs6461378 0.50005
NM_001130965.3(SUN1):c.451+91C>T rs6415241 0.45739
NM_001130965.3(SUN1):c.1422A>G (p.Thr474=) rs10950789 0.40179
NM_001130965.3(SUN1):c.1779+16G>A rs4276575 0.16511
NM_001130965.3(SUN1):c.1426G>A (p.Glu476Lys) rs59910530 0.14947
NM_001130965.3(SUN1):c.606C>T (p.Pro202=) rs113652875 0.04063
NM_001130965.3(SUN1):c.911-12C>G rs117540096 0.02102
NM_001130965.3(SUN1):c.2148+13G>A rs142058474 0.01673
NM_001130965.3(SUN1):c.278A>C (p.Gln93Pro) rs78842948 0.01508
NM_001130965.3(SUN1):c.1646C>T (p.Thr549Met) rs114015310 0.01300
NM_001130965.3(SUN1):c.452-12T>G rs201328717 0.01291
NM_001130965.3(SUN1):c.2043G>A (p.Arg681=) rs61744747 0.01135
NM_001130965.3(SUN1):c.366C>T (p.Val122=) rs41273066 0.01042
NM_001130965.3(SUN1):c.911-15G>A rs117993725 0.00961
NM_001130965.3(SUN1):c.2149-19T>C rs116897811 0.00874
NM_001130965.3(SUN1):c.452-14del rs200016671 0.00674
NM_001130965.3(SUN1):c.589G>A (p.Val197Met) rs116520953 0.00634
NM_001130965.3(SUN1):c.114G>A (p.Thr38=) rs76073621 0.00603
NM_001130965.3(SUN1):c.2114A>G (p.Asn705Ser) rs138051124 0.00549
NM_001130965.3(SUN1):c.738G>T (p.Trp246Cys) rs142011077 0.00518
NM_001130965.3(SUN1):c.78-4C>T rs145390365 0.00515
NM_001130965.3(SUN1):c.608C>T (p.Ala203Val) rs144929525 0.00496
NM_001130965.3(SUN1):c.1133A>G (p.His378Arg) rs77831520 0.00384
NM_001130965.3(SUN1):c.1580G>T (p.Gly527Val) rs77058871 0.00335
NM_001130965.3(SUN1):c.2199G>A (p.Thr733=) rs200378884 0.00236
NM_001130965.3(SUN1):c.2148+17G>A rs202146795 0.00226
NM_001130965.3(SUN1):c.1760C>T (p.Ala587Val) rs114701323 0.00206
NM_001130965.3(SUN1):c.2250C>T (p.Pro750=) rs61741990 0.00203
NM_001130965.3(SUN1):c.358G>A (p.Gly120Ser) rs199666815 0.00195
NM_001130965.3(SUN1):c.2067C>T (p.Ala689=) rs143436648 0.00178
NM_001130965.3(SUN1):c.1980+14G>A rs192967321 0.00174
NM_001130965.3(SUN1):c.226G>T (p.Gly76Cys) rs114826023 0.00170
NM_001130965.3(SUN1):c.2239C>T (p.Leu747=) rs143543329 0.00158
NM_001130965.3(SUN1):c.2237C>T (p.Ala746Val) rs189728809 0.00133
NM_001130965.3(SUN1):c.1980+11G>A rs374700287 0.00127
NM_001130965.3(SUN1):c.2148+20C>G rs202040489 0.00101
NM_001130965.3(SUN1):c.78-3T>C rs77466627 0.00096
NM_001130965.3(SUN1):c.2251G>A (p.Asp751Asn) rs200503893 0.00083
NM_001130965.3(SUN1):c.1525-17G>A rs150769189 0.00074
NM_001130965.3(SUN1):c.2143G>A (p.Val715Ile) rs200907784 0.00074
NM_001130965.3(SUN1):c.235A>G (p.Ser79Gly) rs199999269 0.00068
NM_001130965.3(SUN1):c.1264-6C>A rs201254301 0.00056
NM_001130965.3(SUN1):c.1995C>T (p.Pro665=) rs369315584 0.00051
NM_001130965.3(SUN1):c.257G>C (p.Arg86Pro) rs375668872 0.00051
NM_001130965.3(SUN1):c.1732G>T (p.Val578Leu) rs201804636 0.00048
NM_001130965.3(SUN1):c.728C>T (p.Ser243Leu) rs372849423 0.00048
NM_001130965.3(SUN1):c.179C>T (p.Thr60Met) rs112200342 0.00047
NM_001130965.3(SUN1):c.1861G>A (p.Gly621Ser) rs145337558 0.00046
NM_001130965.3(SUN1):c.733C>G (p.Leu245Val) rs377094306 0.00039
NM_001130965.3(SUN1):c.335C>T (p.Thr112Met) rs183872262 0.00031
NM_001130965.3(SUN1):c.543C>T (p.Asn181=) rs372377655 0.00024
NM_001130965.3(SUN1):c.2282G>A (p.Arg761Gln) rs199515429 0.00021
NM_001130965.3(SUN1):c.362C>G (p.Thr121Ser) rs541487561 0.00019
NM_001130965.3(SUN1):c.451+13G>A rs376973725 0.00019
NM_001130965.3(SUN1):c.496A>G (p.Ile166Val) rs201949393 0.00019
NM_001130965.3(SUN1):c.1216G>A (p.Gly406Arg) rs201437034 0.00017
NM_001130965.3(SUN1):c.535G>A (p.Ala179Thr) rs200430189 0.00017
NM_001130965.3(SUN1):c.695C>T (p.Ala232Val) rs181988140 0.00017
NM_001130965.3(SUN1):c.1531G>A (p.Val511Met) rs369117433 0.00015
NM_001130965.3(SUN1):c.599C>T (p.Ala200Val) rs368907584 0.00015
NM_001130965.3(SUN1):c.1754C>T (p.Ala585Val) rs377135952 0.00014
NM_001130965.3(SUN1):c.1398G>A (p.Ala466=) rs752157539 0.00013
NM_001130965.3(SUN1):c.203G>A (p.Gly68Asp) rs188935423 0.00013
NM_001130965.3(SUN1):c.289A>T (p.Thr97Ser) rs536026654 0.00013
NM_001130965.3(SUN1):c.233G>A (p.Ser78Asn) rs780522800 0.00012
NM_001130965.3(SUN1):c.1230G>A (p.Ser410=) rs377176751 0.00011
NM_001130965.3(SUN1):c.1513G>A (p.Val505Ile) rs371879209 0.00011
NM_001130965.3(SUN1):c.1647G>A (p.Thr549=) rs369056112 0.00011
NM_001130965.3(SUN1):c.1921A>G (p.Met641Val) rs374040275 0.00011
NM_001130965.3(SUN1):c.319G>A (p.Val107Met) rs376335038 0.00011
NM_001130965.3(SUN1):c.478+15C>T rs199865981 0.00011
NM_001130965.3(SUN1):c.581G>A (p.Arg194His) rs369326753 0.00011
NM_001130965.3(SUN1):c.992G>A (p.Arg331Gln) rs374902623 0.00011
NM_001130965.3(SUN1):c.1221G>A (p.Pro407=) rs373057888 0.00010
NM_001130965.3(SUN1):c.227G>C (p.Gly76Ala) rs149038179 0.00010
NM_001130965.3(SUN1):c.260C>T (p.Ala87Val) rs371152290 0.00010
NM_001130965.3(SUN1):c.267-17T>G rs527315917 0.00010
NM_001130965.3(SUN1):c.1747A>G (p.Ser583Gly) rs200128195 0.00009
NM_001130965.3(SUN1):c.241G>A (p.Val81Ile) rs536171212 0.00009
NM_001130965.3(SUN1):c.424G>C (p.Glu142Gln) rs369804846 0.00009
NM_001130965.3(SUN1):c.1002C>T (p.Asp334=) rs201953343 0.00008
NM_001130965.3(SUN1):c.1026G>A (p.Thr342=) rs370468947 0.00008
NM_001130965.3(SUN1):c.1240G>A (p.Ala414Thr) rs574113932 0.00008
NM_001130965.3(SUN1):c.1264-14T>G rs1554263715 0.00008
NM_001130965.3(SUN1):c.1787G>A (p.Arg596His) rs372947867 0.00008
NM_001130965.3(SUN1):c.2344G>A (p.Glu782Lys) rs373928196 0.00008
NM_001130965.3(SUN1):c.683G>A (p.Arg228His) rs773328901 0.00008
NM_001130965.3(SUN1):c.807G>A (p.Gln269=) rs531500002 0.00008
NM_001130965.3(SUN1):c.962T>G (p.Leu321Trp) rs199719259 0.00008
NM_001130965.3(SUN1):c.1676T>C (p.Leu559Pro) rs370324367 0.00007
NM_001130965.3(SUN1):c.1968C>T (p.Arg656=) rs774990499 0.00007
NM_001130965.3(SUN1):c.2198C>T (p.Thr733Met) rs201199820 0.00007
NM_001130965.3(SUN1):c.1263+7G>T rs758135165 0.00006
NM_001130965.3(SUN1):c.1301G>A (p.Arg434His) rs776823974 0.00006
NM_001130965.3(SUN1):c.1768A>T (p.Ile590Leu) rs374725863 0.00006
NM_001130965.3(SUN1):c.266+10G>A rs369172026 0.00006
NM_001130965.3(SUN1):c.281G>A (p.Arg94His) rs112598200 0.00006
NM_001130965.3(SUN1):c.537G>A (p.Ala179=) rs778621413 0.00006
NM_001130965.3(SUN1):c.621C>T (p.Pro207=) rs367825879 0.00006
NM_001130965.3(SUN1):c.622G>A (p.Val208Met) rs539058781 0.00006
NM_001130965.3(SUN1):c.729G>A (p.Ser243=) rs770542036 0.00006
NM_001130965.3(SUN1):c.900C>G (p.Phe300Leu) rs377260468 0.00006
NM_001130965.3(SUN1):c.958G>A (p.Val320Met) rs555876242 0.00006
NM_001130965.3(SUN1):c.1362G>T (p.Lys454Asn) rs202122012 0.00005
NM_001130965.3(SUN1):c.163A>G (p.Ser55Gly) rs777193403 0.00005
NM_001130965.3(SUN1):c.2220G>A (p.Ser740=) rs375028589 0.00005
NM_001130965.3(SUN1):c.452-14G>T rs200870545 0.00005
NM_001130965.3(SUN1):c.597G>A (p.Thr199=) rs374832216 0.00005
NM_001130965.3(SUN1):c.722C>T (p.Ala241Val) rs369311027 0.00005
NM_001130965.3(SUN1):c.763G>A (p.Ala255Thr) rs201864272 0.00005
NM_001130965.3(SUN1):c.1210G>A (p.Ala404Thr) rs757340477 0.00004
NM_001130965.3(SUN1):c.1372C>G (p.Gln458Glu) rs547404802 0.00004
NM_001130965.3(SUN1):c.1390A>G (p.Ile464Val) rs199915497 0.00004
NM_001130965.3(SUN1):c.1455A>G (p.Leu485=) rs1025148320 0.00004
NM_001130965.3(SUN1):c.1683C>T (p.Asn561=) rs775680958 0.00004
NM_001130965.3(SUN1):c.180G>A (p.Thr60=) rs775796501 0.00004
NM_001130965.3(SUN1):c.1902C>T (p.Tyr634=) rs770512687 0.00004
NM_001130965.3(SUN1):c.1923G>A (p.Met641Ile) rs750658890 0.00004
NM_001130965.3(SUN1):c.2010A>G (p.Ala670=) rs765841616 0.00004
NM_001130965.3(SUN1):c.220G>A (p.Asp74Asn) rs374767640 0.00004
NM_001130965.3(SUN1):c.2227A>G (p.Met743Val) rs368333285 0.00004
NM_001130965.3(SUN1):c.2238C>T (p.Ala746=) rs199630068 0.00004
NM_001130965.3(SUN1):c.389G>A (p.Arg130Gln) rs781471011 0.00004
NM_001130965.3(SUN1):c.408C>T (p.Asp136=) rs575219579 0.00004
NM_001130965.3(SUN1):c.873G>A (p.Lys291=) rs373974517 0.00004
NM_001130965.3(SUN1):c.1025C>T (p.Thr342Met) rs544208812 0.00003
NM_001130965.3(SUN1):c.1053+8G>T rs750944051 0.00003
NM_001130965.3(SUN1):c.1239C>T (p.Asp413=) rs373058985 0.00003
NM_001130965.3(SUN1):c.1326G>T (p.Leu442=) rs375435638 0.00003
NM_001130965.3(SUN1):c.1420A>C (p.Thr474Pro) rs781596220 0.00003
NM_001130965.3(SUN1):c.1854G>C (p.Leu618=) rs544613266 0.00003
NM_001130965.3(SUN1):c.1903G>A (p.Glu635Lys) rs376317036 0.00003
NM_001130965.3(SUN1):c.386C>T (p.Thr129Ile) rs199937447 0.00003
NM_001130965.3(SUN1):c.948G>A (p.Ser316=) rs776253918 0.00003
NM_001130965.3(SUN1):c.1092C>T (p.Gly364=) rs777887455 0.00002
NM_001130965.3(SUN1):c.1229C>T (p.Ser410Leu) rs963866352 0.00002
NM_001130965.3(SUN1):c.1296A>G (p.Glu432=) rs761026434 0.00002
NM_001130965.3(SUN1):c.1525-18C>T rs768301493 0.00002
NM_001130965.3(SUN1):c.1659C>T (p.Asp553=) rs752578715 0.00002
NM_001130965.3(SUN1):c.1780-8C>T rs755436273 0.00002
NM_001130965.3(SUN1):c.1941G>A (p.Pro647=) rs199720270 0.00002
NM_001130965.3(SUN1):c.1958A>G (p.Gln653Arg) rs573186073 0.00002
NM_001130965.3(SUN1):c.1959G>A (p.Gln653=) rs745489333 0.00002
NM_001130965.3(SUN1):c.2034G>T (p.Leu678=) rs1160213850 0.00002
NM_001130965.3(SUN1):c.2142C>T (p.Ala714=) rs561697837 0.00002
NM_001130965.3(SUN1):c.345C>T (p.Gly115=) rs538774385 0.00002
NM_001130965.3(SUN1):c.525C>T (p.Ala175=) rs368543045 0.00002
NM_001130965.3(SUN1):c.555C>G (p.Cys185Trp) rs776947421 0.00002
NM_001130965.3(SUN1):c.720G>A (p.Thr240=) rs186121469 0.00002
NM_001130965.3(SUN1):c.885G>C (p.Leu295Phe) rs187616677 0.00002
NM_001130965.3(SUN1):c.1018A>G (p.Lys340Glu) rs770728287 0.00001
NM_001130965.3(SUN1):c.1053+13A>G rs1823649625 0.00001
NM_001130965.3(SUN1):c.1072C>A (p.Pro358Thr) rs1402655652 0.00001
NM_001130965.3(SUN1):c.1075T>G (p.Trp359Gly) rs1824104633 0.00001
NM_001130965.3(SUN1):c.1112C>T (p.Ser371Phe) rs779987779 0.00001
NM_001130965.3(SUN1):c.1137T>C (p.His379=) rs1275509881 0.00001
NM_001130965.3(SUN1):c.1194C>T (p.Asp398=) rs1403321463 0.00001
NM_001130965.3(SUN1):c.1195C>T (p.Gln399Ter) rs1287838591 0.00001
NM_001130965.3(SUN1):c.1209C>T (p.Gly403=) rs376921792 0.00001
NM_001130965.3(SUN1):c.1263+12C>T rs777780305 0.00001
NM_001130965.3(SUN1):c.1270T>C (p.Phe424Leu) rs548117640 0.00001
NM_001130965.3(SUN1):c.1400T>C (p.Val467Ala) rs1191867046 0.00001
NM_001130965.3(SUN1):c.1483G>A (p.Val495Met) rs750763397 0.00001
NM_001130965.3(SUN1):c.148C>T (p.Arg50Trp) rs1019819580 0.00001
NM_001130965.3(SUN1):c.1512C>T (p.Ala504=) rs748209663 0.00001
NM_001130965.3(SUN1):c.1525-4C>T rs1831070967 0.00001
NM_001130965.3(SUN1):c.1582G>T (p.Gly528Cys) rs549897796 0.00001
NM_001130965.3(SUN1):c.1634G>T (p.Gly545Val) rs751586546 0.00001
NM_001130965.3(SUN1):c.1679G>A (p.Arg560Gln) rs374707736 0.00001
NM_001130965.3(SUN1):c.1696G>A (p.Val566Ile) rs910379771 0.00001
NM_001130965.3(SUN1):c.1749C>T (p.Ser583=) rs780539401 0.00001
NM_001130965.3(SUN1):c.1755G>A (p.Ala585=) rs749583423 0.00001
NM_001130965.3(SUN1):c.1779+10C>A rs751444425 0.00001
NM_001130965.3(SUN1):c.1785A>T (p.Ala595=) rs1554264398 0.00001
NM_001130965.3(SUN1):c.1827T>C (p.Asp609=) rs1351990939 0.00001
NM_001130965.3(SUN1):c.189C>T (p.Cys63=) rs764562577 0.00001
NM_001130965.3(SUN1):c.1955C>T (p.Ser652Leu) rs747017149 0.00001
NM_001130965.3(SUN1):c.1980+10C>T rs750855204 0.00001
NM_001130965.3(SUN1):c.1980+13C>T rs367667307 0.00001
NM_001130965.3(SUN1):c.1980+20C>T rs755016066 0.00001
NM_001130965.3(SUN1):c.2115C>T (p.Asn705=) rs1265067455 0.00001
NM_001130965.3(SUN1):c.2124C>T (p.Ser708=) rs376370215 0.00001
NM_001130965.3(SUN1):c.2139C>T (p.Phe713=) rs777094056 0.00001
NM_001130965.3(SUN1):c.2140G>A (p.Ala714Thr) rs759639292 0.00001
NM_001130965.3(SUN1):c.2254G>A (p.Asp752Asn) rs768700424 0.00001
NM_001130965.3(SUN1):c.225C>T (p.Ser75=) rs777759377 0.00001
NM_001130965.3(SUN1):c.2281C>T (p.Arg761Trp) rs769875681 0.00001
NM_001130965.3(SUN1):c.2307T>C (p.Pro769=) rs201787522 0.00001
NM_001130965.3(SUN1):c.2348C>A (p.Pro783His) rs755364227 0.00001
NM_001130965.3(SUN1):c.238G>A (p.Ala80Thr) rs775882448 0.00001
NM_001130965.3(SUN1):c.296A>G (p.Lys99Arg) rs1203009448 0.00001
NM_001130965.3(SUN1):c.346G>A (p.Val116Ile) rs374613091 0.00001
NM_001130965.3(SUN1):c.363T>C (p.Thr121=) rs1266147950 0.00001
NM_001130965.3(SUN1):c.368G>C (p.Ser123Thr) rs1320668240 0.00001
NM_001130965.3(SUN1):c.429G>A (p.Gln143=) rs776271425 0.00001
NM_001130965.3(SUN1):c.435A>G (p.Thr145=) rs372424923 0.00001
NM_001130965.3(SUN1):c.451+7C>T rs764595368 0.00001
NM_001130965.3(SUN1):c.478+9T>C rs1811934380 0.00001
NM_001130965.3(SUN1):c.479-15G>A rs1191123208 0.00001
NM_001130965.3(SUN1):c.531C>T (p.Ala177=) rs1264934996 0.00001
NM_001130965.3(SUN1):c.536C>T (p.Ala179Val) rs368473097 0.00001
NM_001130965.3(SUN1):c.592C>T (p.Leu198Phe) rs778995671 0.00001
NM_001130965.3(SUN1):c.607G>A (p.Ala203Thr) rs370867004 0.00001
NM_001130965.3(SUN1):c.616G>A (p.Gly206Arg) rs375261890 0.00001
NM_001130965.3(SUN1):c.656A>T (p.Lys219Ile) rs774555940 0.00001
NM_001130965.3(SUN1):c.682C>T (p.Arg228Cys) rs772936422 0.00001
NM_001130965.3(SUN1):c.690C>T (p.Ile230=) rs765886591 0.00001
NM_001130965.3(SUN1):c.758-9C>A rs776447528 0.00001
NM_001130965.3(SUN1):c.767C>T (p.Ala256Val) rs775206908 0.00001
NM_001130965.3(SUN1):c.773G>T (p.Gly258Val) rs1423385703 0.00001
NM_001130965.3(SUN1):c.815C>G (p.Thr272Ser) rs565641706 0.00001
NM_001130965.3(SUN1):c.849C>T (p.Thr283=) rs534584477 0.00001
NM_001130965.3(SUN1):c.852-7C>G rs372242822 0.00001
NM_001130965.3(SUN1):c.914G>A (p.Gly305Asp) rs781390393 0.00001
NM_001130965.3(SUN1):c.934G>A (p.Gly312Ser) rs768858283 0.00001
NM_001130965.3(SUN1):c.938A>G (p.Asn313Ser) rs774636827 0.00001
NM_001130965.3(SUN1):c.947C>T (p.Ser316Leu) rs1445945190 0.00001
NM_001130965.3(SUN1):c.957C>T (p.Pro319=) rs749410045 0.00001
NC_000007.14:g.(?_832495)_(873341_?)dup
NM_001130965.3(SUN1):c.1010A>C (p.Asp337Ala)
NM_001130965.3(SUN1):c.1024A>G (p.Thr342Ala) rs1584895416
NM_001130965.3(SUN1):c.1028C>T (p.Thr343Ile) rs1006896977
NM_001130965.3(SUN1):c.1033C>T (p.Arg345Cys)
NM_001130965.3(SUN1):c.1042C>A (p.Gln348Lys)
NM_001130965.3(SUN1):c.1053+7G>A rs2128396512
NM_001130965.3(SUN1):c.1068T>A (p.Ala356=) rs2128400415
NM_001130965.3(SUN1):c.1074G>A (p.Pro358=)
NM_001130965.3(SUN1):c.1080T>C (p.His360=) rs1554263560
NM_001130965.3(SUN1):c.1104G>A (p.Gln368=) rs1279863264
NM_001130965.3(SUN1):c.1106T>C (p.Val369Ala)
NM_001130965.3(SUN1):c.1116G>A (p.Leu372=)
NM_001130965.3(SUN1):c.1123C>G (p.Gln375Glu) rs1824133471
NM_001130965.3(SUN1):c.1123C>T (p.Gln375Ter)
NM_001130965.3(SUN1):c.1127G>A (p.Cys376Tyr)
NM_001130965.3(SUN1):c.1136A>G (p.His379Arg)
NM_001130965.3(SUN1):c.1151G>A (p.Arg384Gln)
NM_001130965.3(SUN1):c.1160C>A (p.Thr387Asn)
NM_001130965.3(SUN1):c.1205G>A (p.Gly402Asp) rs1554263579
NM_001130965.3(SUN1):c.1207G>A (p.Gly403Ser)
NM_001130965.3(SUN1):c.120C>G (p.His40Gln)
NM_001130965.3(SUN1):c.1215C>T (p.Ala405=)
NM_001130965.3(SUN1):c.1220_1263+16del rs2128401073
NM_001130965.3(SUN1):c.1228T>G (p.Ser410Ala) rs770565376
NM_001130965.3(SUN1):c.1230G>T (p.Ser410=)
NM_001130965.3(SUN1):c.1251G>A (p.Gln417=)
NM_001130965.3(SUN1):c.1257G>A (p.Pro419=) rs370495368
NM_001130965.3(SUN1):c.1263+4G>A
NM_001130965.3(SUN1):c.1263+4G>C
NM_001130965.3(SUN1):c.1265C>G (p.Thr422Ser)
NM_001130965.3(SUN1):c.1275G>T (p.Met425Ile) rs1584946287
NM_001130965.3(SUN1):c.1290A>G (p.Glu430=)
NM_001130965.3(SUN1):c.129C>T (p.Asp43=)
NM_001130965.3(SUN1):c.1300C>T (p.Arg434Cys)
NM_001130965.3(SUN1):c.132T>A (p.Pro44=) rs551076611
NM_001130965.3(SUN1):c.1350+13G>C rs368425106
NM_001130965.3(SUN1):c.1350+15C>G rs141644029
NM_001130965.3(SUN1):c.1350+15C>T rs141644029
NM_001130965.3(SUN1):c.1351-11A>G
NM_001130965.3(SUN1):c.1351-12C>G
NM_001130965.3(SUN1):c.1351-12C>T rs1342294473
NM_001130965.3(SUN1):c.1358A>G (p.Gln453Arg)
NM_001130965.3(SUN1):c.1394+20_1394+21del
NM_001130965.3(SUN1):c.1395-14C>T
NM_001130965.3(SUN1):c.1395-18C>G rs901766935
NM_001130965.3(SUN1):c.1395-8dup rs767286803
NM_001130965.3(SUN1):c.1410G>C (p.Gln470His)
NM_001130965.3(SUN1):c.1416G>A (p.Leu472=)
NM_001130965.3(SUN1):c.1420A>G (p.Thr474Ala) rs781596220
NM_001130965.3(SUN1):c.1425_1426delinsGA (p.Glu476Lys) rs2128441763
NM_001130965.3(SUN1):c.1435C>G (p.Gln479Glu)
NM_001130965.3(SUN1):c.1440G>A (p.Leu480=) rs1585023977
NM_001130965.3(SUN1):c.1452G>A (p.Gln484=) rs769379867
NM_001130965.3(SUN1):c.1465C>G (p.Leu489Val)
NM_001130965.3(SUN1):c.1478G>A (p.Arg493Gln)
NM_001130965.3(SUN1):c.1491C>G (p.Thr497=) rs756560984
NM_001130965.3(SUN1):c.1491C>T (p.Thr497=)
NM_001130965.3(SUN1):c.1492G>A (p.Gly498Ser)
NM_001130965.3(SUN1):c.149G>A (p.Arg50Gln)
NM_001130965.3(SUN1):c.1505T>C (p.Val502Ala) rs1829005584
NM_001130965.3(SUN1):c.1512C>A (p.Ala504=) rs748209663
NM_001130965.3(SUN1):c.1517A>G (p.Gln506Arg)
NM_001130965.3(SUN1):c.1519G>C (p.Glu507Gln)
NM_001130965.3(SUN1):c.1525-6T>C rs1831067148
NM_001130965.3(SUN1):c.1530C>A (p.Asp510Glu) rs369720300
NM_001130965.3(SUN1):c.1530C>T (p.Asp510=) rs369720300
NM_001130965.3(SUN1):c.1549G>A (p.Val517Met)
NM_001130965.3(SUN1):c.1561T>G (p.Phe521Val) rs1366892549
NM_001130965.3(SUN1):c.1577A>G (p.Gln526Arg)
NM_001130965.3(SUN1):c.157C>T (p.Arg53Cys)
NM_001130965.3(SUN1):c.1581C>T (p.Gly527=)
NM_001130965.3(SUN1):c.1582G>C (p.Gly528Arg) rs549897796
NM_001130965.3(SUN1):c.1587T>C (p.Ser529=) rs1033833962
NM_001130965.3(SUN1):c.1598T>A (p.Leu533Gln)
NM_001130965.3(SUN1):c.160C>T (p.Arg54Cys)
NM_001130965.3(SUN1):c.1612T>A (p.Ser538Thr)
NM_001130965.3(SUN1):c.1612T>C (p.Ser538Pro)
NM_001130965.3(SUN1):c.1613C>T (p.Ser538Leu) rs984369757
NM_001130965.3(SUN1):c.161G>A (p.Arg54His) rs772100423
NM_001130965.3(SUN1):c.1655G>A (p.Arg552Gln)
NM_001130965.3(SUN1):c.1659C>G (p.Asp553Glu) rs752578715
NM_001130965.3(SUN1):c.1666C>A (p.Leu556Met) rs777583914
NM_001130965.3(SUN1):c.1675C>T (p.Leu559=)
NM_001130965.3(SUN1):c.1684G>A (p.Val562Ile) rs749673318
NM_001130965.3(SUN1):c.1691A>G (p.His564Arg)
NM_001130965.3(SUN1):c.1693C>A (p.His565Asn) rs1421142069
NM_001130965.3(SUN1):c.1695C>T (p.His565=)
NM_001130965.3(SUN1):c.169C>T (p.Arg57Cys)
NM_001130965.3(SUN1):c.170G>A (p.Arg57His)
NM_001130965.3(SUN1):c.1715T>C (p.Leu572Pro)
NM_001130965.3(SUN1):c.1732G>A (p.Val578Met) rs201804636
NM_001130965.3(SUN1):c.1737G>A (p.Val579=)
NM_001130965.3(SUN1):c.174G>C (p.Leu58=) rs776352769
NM_001130965.3(SUN1):c.1750G>A (p.Glu584Lys)
NM_001130965.3(SUN1):c.1753G>A (p.Ala585Thr)
NM_001130965.3(SUN1):c.1777G>T (p.Ala593Ser) rs952938105
NM_001130965.3(SUN1):c.1778C>T (p.Ala593Val)
NM_001130965.3(SUN1):c.1779+15C>T
NM_001130965.3(SUN1):c.1779+7C>T rs775564962
NM_001130965.3(SUN1):c.1779+8G>A
NM_001130965.3(SUN1):c.1779+8G>T
NM_001130965.3(SUN1):c.177C>T (p.Ala59=) rs745467961
NM_001130965.3(SUN1):c.1780-12G>A
NM_001130965.3(SUN1):c.1780-19G>A
NM_001130965.3(SUN1):c.1780-20C>T
NM_001130965.3(SUN1):c.1833C>T (p.Thr611=) rs774347766
NM_001130965.3(SUN1):c.185C>T (p.Ala62Val)
NM_001130965.3(SUN1):c.1863T>G (p.Gly621=)
NM_001130965.3(SUN1):c.1864+14C>A
NM_001130965.3(SUN1):c.1864+14C>T rs369041055
NM_001130965.3(SUN1):c.1869C>T (p.Gly623=)
NM_001130965.3(SUN1):c.1902C>G (p.Tyr634Ter)
NM_001130965.3(SUN1):c.1906A>G (p.Thr636Ala) rs201361158
NM_001130965.3(SUN1):c.1913C>T (p.Thr638Met) rs539468692
NM_001130965.3(SUN1):c.193C>T (p.Leu65=) rs774353215
NM_001130965.3(SUN1):c.1956G>A (p.Ser652=)
NM_001130965.3(SUN1):c.1964C>T (p.Pro655Leu) rs1193272206
NM_001130965.3(SUN1):c.1971G>C (p.Val657=)
NM_001130965.3(SUN1):c.1980+12C>T
NM_001130965.3(SUN1):c.1981-6C>A rs766555403
NM_001130965.3(SUN1):c.200A>T (p.Asp67Val) rs371817690
NM_001130965.3(SUN1):c.2046C>T (p.Leu682=) rs1334345429
NM_001130965.3(SUN1):c.2054T>A (p.Met685Lys) rs1839819500
NM_001130965.3(SUN1):c.2057T>C (p.Ile686Thr)
NM_001130965.3(SUN1):c.2108C>G (p.Thr703Arg)
NM_001130965.3(SUN1):c.2119A>G (p.Ser707Gly) rs373518804
NM_001130965.3(SUN1):c.2127C>T (p.Ala709=)
NM_001130965.3(SUN1):c.2148+16C>T
NM_001130965.3(SUN1):c.2148+9C>G
NM_001130965.3(SUN1):c.2149-15T>C
NM_001130965.3(SUN1):c.2158A>G (p.Asn720Asp)
NM_001130965.3(SUN1):c.2161G>A (p.Glu721Lys)
NM_001130965.3(SUN1):c.2163G>C (p.Glu721Asp)
NM_001130965.3(SUN1):c.2199G>T (p.Thr733=)
NM_001130965.3(SUN1):c.219C>T (p.Ala73=)
NM_001130965.3(SUN1):c.2229G>C (p.Met743Ile)
NM_001130965.3(SUN1):c.2241+16G>A
NM_001130965.3(SUN1):c.2241+9T>C rs2128602540
NM_001130965.3(SUN1):c.2241+9dup
NM_001130965.3(SUN1):c.2242-10T>C
NM_001130965.3(SUN1):c.2242-14del rs760426388
NM_001130965.3(SUN1):c.2253C>T (p.Asp751=)
NM_001130965.3(SUN1):c.2265C>T (p.Phe755=)
NM_001130965.3(SUN1):c.2269A>G (p.Ile757Val)
NM_001130965.3(SUN1):c.226G>A (p.Gly76Ser) rs114826023
NM_001130965.3(SUN1):c.2271A>G (p.Ile757Met) rs1221855051
NM_001130965.3(SUN1):c.2277A>G (p.Glu759=)
NM_001130965.3(SUN1):c.2280_2281delinsAA (p.Leu760_Arg761=)
NM_001130965.3(SUN1):c.2295C>T (p.Asn765=) rs1465729615
NM_001130965.3(SUN1):c.2320C>G (p.Leu774Val)
NM_001130965.3(SUN1):c.2331C>A (p.Phe777Leu)
NM_001130965.3(SUN1):c.240T>C (p.Ala80=)
NM_001130965.3(SUN1):c.241G>C (p.Val81Leu)
NM_001130965.3(SUN1):c.243C>T (p.Val81=) rs774928207
NM_001130965.3(SUN1):c.251A>G (p.Lys84Arg)
NM_001130965.3(SUN1):c.254A>T (p.Asn85Ile)
NM_001130965.3(SUN1):c.257G>A (p.Arg86Gln) rs375668872
NM_001130965.3(SUN1):c.258A>G (p.Arg86=)
NM_001130965.3(SUN1):c.261G>A (p.Ala87=)
NM_001130965.3(SUN1):c.266+19C>G
NM_001130965.3(SUN1):c.266+20C>T
NM_001130965.3(SUN1):c.267-10T>C
NM_001130965.3(SUN1):c.267-16T>G rs2128296251
NM_001130965.3(SUN1):c.267-6del rs747866078
NM_001130965.3(SUN1):c.267-9del
NM_001130965.3(SUN1):c.267-9dup rs535135658
NM_001130965.3(SUN1):c.309T>C (p.Ser103=) rs1810486661
NM_001130965.3(SUN1):c.326G>C (p.Arg109Thr) rs778427452
NM_001130965.3(SUN1):c.355G>A (p.Gly119Ser)
NM_001130965.3(SUN1):c.357C>T (p.Gly119=)
NM_001130965.3(SUN1):c.369C>T (p.Ser123=)
NM_001130965.3(SUN1):c.385A>G (p.Thr129Ala) rs2128296982
NM_001130965.3(SUN1):c.388C>T (p.Arg130Ter)
NM_001130965.3(SUN1):c.389G>T (p.Arg130Leu) rs781471011
NM_001130965.3(SUN1):c.397C>T (p.Pro133Ser)
NM_001130965.3(SUN1):c.398C>A (p.Pro133His) rs367835809
NM_001130965.3(SUN1):c.402A>T (p.Val134=)
NM_001130965.3(SUN1):c.413C>G (p.Ser138Cys)
NM_001130965.3(SUN1):c.421C>T (p.Arg141Cys)
NM_001130965.3(SUN1):c.422G>A (p.Arg141His)
NM_001130965.3(SUN1):c.447C>A (p.Phe149Leu) rs1810622107
NM_001130965.3(SUN1):c.449G>C (p.Trp150Ser)
NM_001130965.3(SUN1):c.451+19_451+20del
NM_001130965.3(SUN1):c.452-11T>G
NM_001130965.3(SUN1):c.452-13T>G rs1562623023
NM_001130965.3(SUN1):c.452-13_452-12insG rs537734027
NM_001130965.3(SUN1):c.452-18G>A
NM_001130965.3(SUN1):c.452-3del rs34925195
NM_001130965.3(SUN1):c.452-3dup rs34925195
NM_001130965.3(SUN1):c.452-4_452-3del rs34925195
NM_001130965.3(SUN1):c.461A>G (p.Asp154Gly)
NM_001130965.3(SUN1):c.470A>G (p.Asp157Gly) rs780997836
NM_001130965.3(SUN1):c.510G>C (p.Gly170=) rs771738533
NM_001130965.3(SUN1):c.514G>A (p.Val172Met)
NM_001130965.3(SUN1):c.520GCC[5] (p.Ala177dup) rs1422408344
NM_001130965.3(SUN1):c.523G>A (p.Ala175Thr)
NM_001130965.3(SUN1):c.528C>T (p.Ala176=)
NM_001130965.3(SUN1):c.544G>A (p.Gly182Ser)
NM_001130965.3(SUN1):c.563G>A (p.Cys188Tyr)
NM_001130965.3(SUN1):c.569T>C (p.Met190Thr) rs932480227
NM_001130965.3(SUN1):c.576C>T (p.Ser192=)
NM_001130965.3(SUN1):c.577G>A (p.Glu193Lys)
NM_001130965.3(SUN1):c.588C>T (p.Asp196=) rs766319627
NM_001130965.3(SUN1):c.604C>A (p.Pro202Thr) rs2128306216
NM_001130965.3(SUN1):c.613C>T (p.Pro205Ser) rs912561766
NM_001130965.3(SUN1):c.615C>G (p.Pro205=)
NM_001130965.3(SUN1):c.615C>T (p.Pro205=)
NM_001130965.3(SUN1):c.622G>T (p.Val208Leu) rs539058781
NM_001130965.3(SUN1):c.624_625insGGGTGCTCACGGCGCACCCCGCGGCCCCCGGGCCCGTG (p.Ser209fs)
NM_001130965.3(SUN1):c.652C>A (p.Gln218Lys)
NM_001130965.3(SUN1):c.659-10C>T
NM_001130965.3(SUN1):c.659-20C>T
NM_001130965.3(SUN1):c.659-2A>G
NM_001130965.3(SUN1):c.659-2A>T rs1329817920
NM_001130965.3(SUN1):c.671T>G (p.Leu224Arg) rs2128381511
NM_001130965.3(SUN1):c.676_686del (p.Ile226fs) rs774843286
NM_001130965.3(SUN1):c.679C>G (p.Leu227Val)
NM_001130965.3(SUN1):c.687G>T (p.Arg229Ser)
NM_001130965.3(SUN1):c.691G>C (p.Gly231Arg) rs753073325
NM_001130965.3(SUN1):c.697G>C (p.Val233Leu) rs377582591
NM_001130965.3(SUN1):c.715A>G (p.Arg239Gly) rs879232845
NM_001130965.3(SUN1):c.722C>A (p.Ala241Glu)
NM_001130965.3(SUN1):c.723G>A (p.Ala241=) rs537602092
NM_001130965.3(SUN1):c.739C>G (p.Leu247Val) rs1368322510
NM_001130965.3(SUN1):c.743C>G (p.Ala248Gly) rs1393440678
NM_001130965.3(SUN1):c.744C>G (p.Ala248=) rs776155785
NM_001130965.3(SUN1):c.745G>A (p.Val249Met)
NM_001130965.3(SUN1):c.748G>T (p.Val250Phe) rs1562696580
NM_001130965.3(SUN1):c.757+11T>C
NM_001130965.3(SUN1):c.757+20G>A
NM_001130965.3(SUN1):c.757+9T>G rs1584857820
NM_001130965.3(SUN1):c.78-15G>A rs1806085115
NM_001130965.3(SUN1):c.78-19A>G
NM_001130965.3(SUN1):c.791G>A (p.Gly264Glu) rs2128387566
NM_001130965.3(SUN1):c.819G>T (p.Leu273Phe) rs2128387711
NM_001130965.3(SUN1):c.835G>C (p.Val279Leu) rs1241533008
NM_001130965.3(SUN1):c.851+11G>T
NM_001130965.3(SUN1):c.851+5G>A
NM_001130965.3(SUN1):c.851+9A>G rs1182624920
NM_001130965.3(SUN1):c.852-5C>T
NM_001130965.3(SUN1):c.852-7C>T rs372242822
NM_001130965.3(SUN1):c.859C>T (p.Arg287Ter) rs961930316
NM_001130965.3(SUN1):c.860G>A (p.Arg287Gln)
NM_001130965.3(SUN1):c.865A>G (p.Ile289Val) rs758027769
NM_001130965.3(SUN1):c.898T>G (p.Phe300Val)
NM_001130965.3(SUN1):c.904T>A (p.Leu302Ile)
NM_001130965.3(SUN1):c.910+2T>C rs1823355041
NM_001130965.3(SUN1):c.910+9A>G
NM_001130965.3(SUN1):c.910+9A>T rs1584888130
NM_001130965.3(SUN1):c.911-3T>C
NM_001130965.3(SUN1):c.918C>G (p.Leu306=)
NM_001130965.3(SUN1):c.932A>G (p.Gln311Arg)
NM_001130965.3(SUN1):c.945T>A (p.Phe315Leu) rs760512224
NM_001130965.3(SUN1):c.94G>A (p.Asp32Asn)
NM_001130965.3(SUN1):c.980A>G (p.His327Arg)
NM_001130965.3(SUN1):c.991C>T (p.Arg331Trp)
NM_001130965.3(SUN1):c.994G>C (p.Val332Leu)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.