ClinVar Miner

List of variants reported as benign for Emery-Dreifuss muscular dystrophy by Invitae

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ClinVar version:
Total variants: 82
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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_015374.3(SUN2):c.1824A>G (p.Gln608=) rs1062687 0.36735
NM_001130965.3(SUN1):c.1779+16G>A rs4276575 0.16511
NM_001130965.3(SUN1):c.1426G>A (p.Glu476Lys) rs59910530 0.14947
NM_015374.3(SUN2):c.2011G>A (p.Gly671Ser) rs2072797 0.08698
NM_015374.3(SUN2):c.266T>G (p.Leu89Arg) rs35496634 0.07876
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_015374.3(SUN2):c.1042C>T (p.Arg348Cys) rs138708 0.01579
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_015374.3(SUN2):c.1356C>T (p.Asp452=) rs138079219 0.01038
NM_015374.3(SUN2):c.656C>T (p.Pro219Leu) rs1883206 0.01037
NM_001130965.3(SUN1):c.911-15G>A rs117993725 0.00961
NM_015374.3(SUN2):c.424+17C>T rs114206377 0.00920
NM_015374.3(SUN2):c.1701C>T (p.Tyr567=) rs8138622 0.00894
NM_015374.3(SUN2):c.614+6C>T rs116680988 0.00890
NM_001130965.3(SUN1):c.2149-19T>C rs116897811 0.00874
NM_015374.3(SUN2):c.1132G>A (p.Val378Ile) rs139004902 0.00721
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_015374.3(SUN2):c.97A>G (p.Thr33Ala) rs2072799 0.00592
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_015374.3(SUN2):c.155G>A (p.Arg52His) rs4510314 0.00486
NM_015374.3(SUN2):c.485C>T (p.Ala162Val) rs62639696 0.00464
NM_001130965.3(SUN1):c.77+17A>T rs143917535 0.00449
NM_001130965.3(SUN1):c.1133A>G (p.His378Arg) rs77831520 0.00384
NM_015374.3(SUN2):c.1372C>T (p.Pro458Ser) rs76681049 0.00377
NM_001130965.3(SUN1):c.1580G>T (p.Gly527Val) rs77058871 0.00335
NM_015374.3(SUN2):c.615-19G>A rs189559627 0.00287
NM_015374.3(SUN2):c.2001C>T (p.Tyr667=) rs146141522 0.00273
NM_001130965.3(SUN1):c.2199G>A (p.Thr733=) rs200378884 0.00236
NM_001130965.3(SUN1):c.2148+17G>A rs202146795 0.00226
NM_015374.3(SUN2):c.1302G>A (p.Ser434=) rs141051927 0.00215
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_015374.3(SUN2):c.471C>T (p.Ser157=) rs146940466 0.00160
NM_001130965.3(SUN1):c.2239C>T (p.Leu747=) rs143543329 0.00158
NM_015374.3(SUN2):c.1524G>A (p.Ala508=) rs146770286 0.00142
NM_001130965.3(SUN1):c.1980+11G>A rs374700287 0.00127
NM_001130965.3(SUN1):c.78-3T>C rs77466627 0.00096
NM_015374.3(SUN2):c.286+18C>T rs202130199 0.00086
NM_001130965.3(SUN1):c.1525-17G>A rs150769189 0.00074
NM_015374.3(SUN2):c.614+7G>A rs202214602 0.00071
NM_015374.3(SUN2):c.276C>T (p.Asp92=) rs111670814 0.00068
NM_015374.3(SUN2):c.1663+10C>G rs372134058 0.00058
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_015374.3(SUN2):c.975C>T (p.His325=) rs201767351 0.00035
NM_015374.3(SUN2):c.1591A>G (p.Ile531Val) rs149140279 0.00021
NM_001130965.3(SUN1):c.203G>A (p.Gly68Asp) rs188935423 0.00013
NM_015374.3(SUN2):c.1896C>T (p.Ala632=) rs112637685 0.00010
NM_001130965.3(SUN1):c.807G>A (p.Gln269=) rs531500002 0.00008
NM_001130965.3(SUN1):c.729G>A (p.Ser243=) rs770542036 0.00006
NM_015374.3(SUN2):c.1734C>T (p.Gly578=) rs537241816 0.00003
NM_015374.3(SUN2):c.420C>T (p.Tyr140=) rs201604103 0.00002
NM_001130965.3(SUN1):c.758-9C>A rs776447528 0.00001
NM_001130965.3(SUN1):c.1350+15C>G rs141644029
NM_001130965.3(SUN1):c.1350+15C>T rs141644029
NM_001130965.3(SUN1):c.1864+14C>T rs369041055
NM_001130965.3(SUN1):c.2242-14del rs760426388
NM_001130965.3(SUN1):c.267-9del
NM_001130965.3(SUN1):c.267-9dup rs535135658
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_015374.3(SUN2):c.1345G>A (p.Val449Met) rs117350165
NM_015374.3(SUN2):c.1740C>T (p.Pro580=) rs570193292

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