ClinVar Miner

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

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Gene type:
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Total variants: 51
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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 0.15921
NM_001130965.3(SUN1):c.1426G>A (p.Glu476Lys) rs59910530 0.15454
NM_001130965.3(SUN1):c.606C>T (p.Pro202=) rs113652875 0.03928
NM_001130965.3(SUN1):c.911-12C>G rs117540096 0.02071
NM_001130965.3(SUN1):c.2148+13G>A rs142058474 0.01602
NM_001130965.3(SUN1):c.278A>C (p.Gln93Pro) rs78842948 0.01409
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 0.01076
NM_001130965.3(SUN1):c.911-15G>A rs117993725 0.00933
NM_001130965.3(SUN1):c.2149-19T>C rs116897811 0.00874
NM_001130965.3(SUN1):c.452-14del rs200016671 0.00863
NM_001130965.3(SUN1):c.114G>A (p.Thr38=) rs76073621 0.00603
NM_001130965.3(SUN1):c.589G>A (p.Val197Met) rs116520953 0.00587
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.2114A>G (p.Asn705Ser) rs138051124 0.00511
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 0.00222
NM_001130965.3(SUN1):c.2250C>T (p.Pro750=) rs61741990 0.00203
NM_001130965.3(SUN1):c.358G>A (p.Gly120Ser) rs199666815 0.00180
NM_001130965.3(SUN1):c.2067C>T (p.Ala689=) rs143436648 0.00170
NM_001130965.3(SUN1):c.226G>T (p.Gly76Cys) rs114826023 0.00170
NM_001130965.3(SUN1):c.1980+14G>A rs192967321 0.00166
NM_001130965.3(SUN1):c.2239C>T (p.Leu747=) rs143543329 0.00158
NM_001130965.3(SUN1):c.78-3T>C rs77466627 0.00154
NM_001130965.3(SUN1):c.1980+11G>A rs374700287 0.00127
NM_001130965.3(SUN1):c.1525-17G>A rs150769189 0.00068
NM_001130965.3(SUN1):c.1995C>T (p.Pro665=) rs369315584 0.00056
NM_001130965.3(SUN1):c.257G>C (p.Arg86Pro) rs375668872 0.00051
NM_001130965.3(SUN1):c.203G>A (p.Gly68Asp) rs188935423 0.00019
NM_001130965.3(SUN1):c.1264-6C>A rs201254301 0.00018
NM_001130965.3(SUN1):c.807G>A (p.Gln269=) rs531500002 0.00008
NM_001130965.3(SUN1):c.729G>A (p.Ser243=) rs770542036 0.00005
NM_001130965.3(SUN1):c.758-9C>A rs776447528 0.00004
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 rs535135658
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

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