List of variants in gene SUN1 reported as likely benign for Emery-Dreifuss muscular dystrophy

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 185

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HGVS	dbSNP	gnomAD frequency
NM_001130965.3(SUN1):c.1760C>T (p.Ala587Val)	rs114701323	0.00206
NM_001130965.3(SUN1):c.2237C>T (p.Ala746Val)	rs189728809	0.00133
NM_001130965.3(SUN1):c.2148+20C>G	rs202040489	0.00101
NM_001130965.3(SUN1):c.2251G>A (p.Asp751Asn)	rs200503893	0.00083
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.543C>T (p.Asn181=)	rs372377655	0.00024
NM_001130965.3(SUN1):c.2282G>A (p.Arg761Gln)	rs199515429	0.00021
NM_001130965.3(SUN1):c.451+13G>A	rs376973725	0.00019
NM_001130965.3(SUN1):c.1398G>A (p.Ala466=)	rs752157539	0.00013
NM_001130965.3(SUN1):c.1230G>A (p.Ser410=)	rs377176751	0.00011
NM_001130965.3(SUN1):c.1647G>A (p.Thr549=)	rs369056112	0.00011
NM_001130965.3(SUN1):c.478+15C>T	rs199865981	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.267-17T>G	rs527315917	0.00010
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.1264-14T>G	rs1554263715	0.00008
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.266+10G>A	rs369172026	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.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.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.2010A>G (p.Ala670=)	rs765841616	0.00004
NM_001130965.3(SUN1):c.2238C>T (p.Ala746=)	rs199630068	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.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.1854G>C (p.Leu618=)	rs544613266	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.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.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.885G>C (p.Leu295Phe)	rs187616677	0.00002
NM_001130965.3(SUN1):c.1053+13A>G	rs1823649625	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.1209C>T (p.Gly403=)	rs376921792	0.00001
NM_001130965.3(SUN1):c.1263+12C>T	rs777780305	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.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.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.225C>T (p.Ser75=)	rs777759377	0.00001
NM_001130965.3(SUN1):c.2307T>C (p.Pro769=)	rs201787522	0.00001
NM_001130965.3(SUN1):c.363T>C (p.Thr121=)	rs1266147950	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.690C>T (p.Ile230=)	rs765886591	0.00001
NM_001130965.3(SUN1):c.849C>T (p.Thr283=)	rs534584477	0.00001
NM_001130965.3(SUN1):c.957C>T (p.Pro319=)	rs749410045	0.00001
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.1116G>A (p.Leu372=)
NM_001130965.3(SUN1):c.1215C>T (p.Ala405=)
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.1290A>G (p.Glu430=)
NM_001130965.3(SUN1):c.129C>T (p.Asp43=)
NM_001130965.3(SUN1):c.132T>A (p.Pro44=)	rs551076611
NM_001130965.3(SUN1):c.1350+13G>C	rs368425106
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.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.1416G>A (p.Leu472=)
NM_001130965.3(SUN1):c.1425_1426delinsGA (p.Glu476Lys)	rs2128441763
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.1491C>G (p.Thr497=)	rs756560984
NM_001130965.3(SUN1):c.1491C>T (p.Thr497=)
NM_001130965.3(SUN1):c.1512C>A (p.Ala504=)	rs748209663
NM_001130965.3(SUN1):c.1525-6T>C	rs1831067148
NM_001130965.3(SUN1):c.1530C>T (p.Asp510=)	rs369720300
NM_001130965.3(SUN1):c.1581C>T (p.Gly527=)
NM_001130965.3(SUN1):c.1587T>C (p.Ser529=)	rs1033833962
NM_001130965.3(SUN1):c.1675C>T (p.Leu559=)
NM_001130965.3(SUN1):c.1695C>T (p.His565=)
NM_001130965.3(SUN1):c.1737G>A (p.Val579=)
NM_001130965.3(SUN1):c.174G>C (p.Leu58=)	rs776352769
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.1864+14C>A
NM_001130965.3(SUN1):c.193C>T (p.Leu65=)	rs774353215
NM_001130965.3(SUN1):c.1956G>A (p.Ser652=)
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.2046C>T (p.Leu682=)	rs1334345429
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.2199G>T (p.Thr733=)
NM_001130965.3(SUN1):c.219C>T (p.Ala73=)
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.2253C>T (p.Asp751=)
NM_001130965.3(SUN1):c.2265C>T (p.Phe755=)
NM_001130965.3(SUN1):c.2277A>G (p.Glu759=)
NM_001130965.3(SUN1):c.2295C>T (p.Asn765=)	rs1465729615
NM_001130965.3(SUN1):c.240T>C (p.Ala80=)
NM_001130965.3(SUN1):c.243C>T (p.Val81=)	rs774928207
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.309T>C (p.Ser103=)	rs1810486661
NM_001130965.3(SUN1):c.357C>T (p.Gly119=)
NM_001130965.3(SUN1):c.369C>T (p.Ser123=)
NM_001130965.3(SUN1):c.402A>T (p.Val134=)
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.510G>C (p.Gly170=)	rs771738533
NM_001130965.3(SUN1):c.528C>T (p.Ala176=)
NM_001130965.3(SUN1):c.576C>T (p.Ser192=)
NM_001130965.3(SUN1):c.588C>T (p.Asp196=)	rs766319627
NM_001130965.3(SUN1):c.615C>G (p.Pro205=)
NM_001130965.3(SUN1):c.615C>T (p.Pro205=)
NM_001130965.3(SUN1):c.659-10C>T
NM_001130965.3(SUN1):c.659-20C>T
NM_001130965.3(SUN1):c.723G>A (p.Ala241=)	rs537602092
NM_001130965.3(SUN1):c.744C>G (p.Ala248=)	rs776155785
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.851+11G>T
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.910+9A>G
NM_001130965.3(SUN1):c.910+9A>T	rs1584888130
NM_001130965.3(SUN1):c.918C>G (p.Leu306=)

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