List of variants reported as likely benign for myoclonus-dystonia syndrome

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 193

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HGVS	dbSNP	gnomAD frequency
NM_001282684.2(KCTD17):c.916C>G (p.His306Asp)	rs146711968	0.00156
NM_001282684.2(KCTD17):c.390+6G>A	rs149432408	0.00111
NM_003919.3(SGCE):c.510T>C (p.Asn170=)	rs55853245	0.00036
NM_001282684.2(KCTD17):c.882C>T (p.Tyr294=)	rs142739650	0.00033
NM_003919.3(SGCE):c.975G>A (p.Ser325=)	rs145040065	0.00016
NM_001282684.2(KCTD17):c.777C>T (p.Pro259=)	rs548803912	0.00015
NM_001282684.2(KCTD17):c.894A>T (p.Ala298=)	rs758691104	0.00014
NM_003919.3(SGCE):c.138C>T (p.Ser46=)	rs116632777	0.00011
NM_001282684.2(KCTD17):c.499G>A (p.Gly167Ser)	rs200563649	0.00010
NM_001282684.2(KCTD17):c.42G>T (p.Ala14=)	rs555901657	0.00009
NM_003919.3(SGCE):c.294T>C (p.Pro98=)	rs138616225	0.00008
NM_001282684.2(KCTD17):c.306G>A (p.Leu102=)	rs755532238	0.00006
NM_001282684.2(KCTD17):c.699T>C (p.Asp233=)	rs969405373	0.00006
NM_001282684.2(KCTD17):c.99G>A (p.Thr33=)	rs747826376	0.00006
NM_003919.3(SGCE):c.1165G>C (p.Val389Leu)	rs374697567	0.00006
NM_001282684.2(KCTD17):c.234C>T (p.Phe78=)	rs756682413	0.00005
NM_003919.3(SGCE):c.378A>C (p.Pro126=)	rs746942662	0.00005
NM_001282684.2(KCTD17):c.123G>A (p.Thr41=)	rs1307842544	0.00004
NM_003919.3(SGCE):c.234C>T (p.Gly78=)	rs768766085	0.00004
NM_003919.3(SGCE):c.738G>A (p.Leu246=)	rs767137229	0.00004
NM_003919.3(SGCE):c.823T>C (p.Leu275=)	rs780163710	0.00004
NM_003919.3(SGCE):c.93C>T (p.Gly31=)	rs748581376	0.00004
NM_003919.3(SGCE):c.1158G>A (p.Thr386=)	rs368276611	0.00003
NM_003919.3(SGCE):c.210A>G (p.Glu70=)	rs907043992	0.00003
NM_003919.3(SGCE):c.279T>C (p.Gly93=)	rs756901549	0.00003
NM_003919.3(SGCE):c.410G>A (p.Arg137His)	rs548306335	0.00003
NM_003919.3(SGCE):c.470C>T (p.Pro157Leu)	rs768233445	0.00003
NM_003919.3(SGCE):c.471G>A (p.Pro157=)	rs747531940	0.00003
NM_001282684.2(KCTD17):c.486+20G>A	rs372989339	0.00002
NM_003919.3(SGCE):c.1074G>A (p.Leu358=)	rs983297904	0.00002
NM_003919.3(SGCE):c.109+15C>T	rs747205304	0.00002
NM_003919.3(SGCE):c.139G>A (p.Asp47Asn)	rs199787155	0.00002
NM_003919.3(SGCE):c.555C>T (p.Gly185=)	rs768286622	0.00002
NM_003919.3(SGCE):c.693G>A (p.Pro231=)	rs757206832	0.00002
NM_003919.3(SGCE):c.972C>T (p.Pro324=)	rs1490533382	0.00002
NM_001282684.2(KCTD17):c.-10G>A	rs1924496959	0.00001
NM_001282684.2(KCTD17):c.255C>G (p.Leu85=)	rs147970401	0.00001
NM_001282684.2(KCTD17):c.444G>A (p.Thr148=)	rs750621399	0.00001
NM_001282684.2(KCTD17):c.522C>T (p.Ser174=)	rs577803443	0.00001
NM_001282684.2(KCTD17):c.875+14C>T	rs754430753	0.00001
NM_001282684.2(KCTD17):c.93G>A (p.Gly31=)	rs956007175	0.00001
NM_003919.3(SGCE):c.1038-4C>T	rs745484720	0.00001
NM_003919.3(SGCE):c.1038-7T>C	rs1158265768	0.00001
NM_003919.3(SGCE):c.1064+16C>A	rs951428613	0.00001
NM_003919.3(SGCE):c.109+17C>A	rs1471421199	0.00001
NM_003919.3(SGCE):c.110-9T>C	rs781152122	0.00001
NM_003919.3(SGCE):c.1176T>C (p.Pro392=)	rs769125810	0.00001
NM_003919.3(SGCE):c.1237T>C (p.Leu413=)	rs147387740	0.00001
NM_003919.3(SGCE):c.1253+15A>G	rs1262368056	0.00001
NM_003919.3(SGCE):c.135C>T (p.His45=)	rs1394843820	0.00001
NM_003919.3(SGCE):c.351C>T (p.Ser117=)	rs1804066636	0.00001
NM_003919.3(SGCE):c.618C>T (p.Asp206=)	rs1196762234	0.00001
NM_003919.3(SGCE):c.711A>G (p.Arg237=)	rs1193322554	0.00001
NM_003919.3(SGCE):c.864G>A (p.Val288=)	rs772144979	0.00001
NM_003919.3(SGCE):c.879G>A (p.Gly293=)	rs781005887	0.00001
NM_003919.3(SGCE):c.909C>T (p.Pro303=)	rs764483578	0.00001
NM_003919.3(SGCE):c.945G>A (p.Thr315=)	rs539333988	0.00001
NM_003919.3(SGCE):c.960A>C (p.Thr320=)	rs774546647	0.00001
NM_003919.3(SGCE):c.96A>G (p.Thr32=)	rs1034414453	0.00001
NM_003919.3(SGCE):c.9G>A (p.Leu3=)	rs751698983	0.00001
NM_001282684.2(KCTD17):c.144C>T (p.Ser48=)	rs572333922
NM_001282684.2(KCTD17):c.189+19G>A
NM_001282684.2(KCTD17):c.18G>C (p.Gly6=)
NM_001282684.2(KCTD17):c.190-15C>T
NM_001282684.2(KCTD17):c.331G>A (p.Gly111Ser)
NM_001282684.2(KCTD17):c.360G>A (p.Arg120=)
NM_001282684.2(KCTD17):c.390+13G>A
NM_001282684.2(KCTD17):c.390+20C>A
NM_001282684.2(KCTD17):c.391-14C>T
NM_001282684.2(KCTD17):c.391-8G>T	rs770530808
NM_001282684.2(KCTD17):c.42G>A (p.Ala14=)
NM_001282684.2(KCTD17):c.489G>T (p.Leu163=)
NM_001282684.2(KCTD17):c.516C>T (p.Tyr172=)
NM_001282684.2(KCTD17):c.579C>T (p.Asn193=)
NM_001282684.2(KCTD17):c.57A>C (p.Ala19=)
NM_001282684.2(KCTD17):c.613-14C>T
NM_001282684.2(KCTD17):c.613-17C>T
NM_001282684.2(KCTD17):c.735T>G (p.Ala245=)
NM_001282684.2(KCTD17):c.771G>A (p.Pro257=)
NM_001282684.2(KCTD17):c.785-10C>T
NM_001282684.2(KCTD17):c.785-15G>A
NM_001282684.2(KCTD17):c.795G>A (p.Pro265=)
NM_001282684.2(KCTD17):c.849C>T (p.Leu283=)
NM_001282684.2(KCTD17):c.875+15G>A
NM_001282684.2(KCTD17):c.875+9C>T
NM_001282684.2(KCTD17):c.876-13C>G
NM_001282684.2(KCTD17):c.876-13_876-12del	rs754259514
NM_001282684.2(KCTD17):c.876-20T>G
NM_001282684.2(KCTD17):c.898G>A (p.Gly300Arg)
NM_001282684.2(KCTD17):c.906G>A (p.Glu302=)
NM_001282684.2(KCTD17):c.90G>C (p.Val30=)
NM_003919.2(SGCE):c.-37_-33dupGGGAG	rs534632849
NM_003919.3(SGCE):c.1037+10T>G	rs2116693166
NM_003919.3(SGCE):c.1037+19A>T
NM_003919.3(SGCE):c.1038-12T>C
NM_003919.3(SGCE):c.1038-13G>A
NM_003919.3(SGCE):c.1038-18A>G	rs779693236
NM_003919.3(SGCE):c.1038-9T>G	rs1187065404
NM_003919.3(SGCE):c.103C>T (p.Leu35=)	rs1808616421
NM_003919.3(SGCE):c.1062A>G (p.Pro354=)
NM_003919.3(SGCE):c.1064+11T>A
NM_003919.3(SGCE):c.1064+14T>C
NM_003919.3(SGCE):c.1064+17C>T
NM_003919.3(SGCE):c.1064+19G>C
NM_003919.3(SGCE):c.1064+9C>T	rs1798913576
NM_003919.3(SGCE):c.1065-22_1065-18del	rs766688362
NM_003919.3(SGCE):c.1065-22_1065-20del	rs752597509
NM_003919.3(SGCE):c.1065-6A>G
NM_003919.3(SGCE):c.110-10T>G
NM_003919.3(SGCE):c.110-15C>T
NM_003919.3(SGCE):c.1101T>A (p.Ser367=)	rs756672671
NM_003919.3(SGCE):c.1104C>A (p.Thr368=)	rs978868528
NM_003919.3(SGCE):c.1107G>A (p.Lys369=)
NM_003919.3(SGCE):c.1155A>G (p.Ser385=)
NM_003919.3(SGCE):c.1218T>C (p.Tyr406=)
NM_003919.3(SGCE):c.1221T>C (p.Asp407=)
NM_003919.3(SGCE):c.1245A>G (p.Gln415=)
NM_003919.3(SGCE):c.1248G>C (p.Thr416=)	rs759435338
NM_003919.3(SGCE):c.1253+14T>C
NM_003919.3(SGCE):c.1253+16G>A
NM_003919.3(SGCE):c.1253+16G>C
NM_003919.3(SGCE):c.1254-10del	rs1584475449
NM_003919.3(SGCE):c.1297+12G>T
NM_003919.3(SGCE):c.1297+18T>C	rs761278877
NM_003919.3(SGCE):c.1297+19A>G
NM_003919.3(SGCE):c.1298-10C>T	rs1584460451
NM_003919.3(SGCE):c.1298-18C>T	rs1796774548
NM_003919.3(SGCE):c.142C>A (p.Arg48=)	rs760964336
NM_003919.3(SGCE):c.15G>T (p.Arg5=)	rs1808636031
NM_003919.3(SGCE):c.207G>A (p.Gly69=)
NM_003919.3(SGCE):c.225A>T (p.Pro75=)	rs2116972106
NM_003919.3(SGCE):c.232+14G>A	rs2116971817
NM_003919.3(SGCE):c.232+15A>G
NM_003919.3(SGCE):c.232+16G>A
NM_003919.3(SGCE):c.232+18A>G
NM_003919.3(SGCE):c.233-5T>A	rs749444131
NM_003919.3(SGCE):c.246T>C (p.Asn82=)
NM_003919.3(SGCE):c.252C>T (p.Pro84=)
NM_003919.3(SGCE):c.285A>G (p.Pro95=)
NM_003919.3(SGCE):c.294T>A (p.Pro98=)	rs138616225
NM_003919.3(SGCE):c.304C>A (p.Arg102=)
NM_003919.3(SGCE):c.306A>G (p.Arg102=)
NM_003919.3(SGCE):c.324A>G (p.Pro108=)
NM_003919.3(SGCE):c.33C>T (p.Asp11=)	rs753678586
NM_003919.3(SGCE):c.381A>G (p.Thr127=)
NM_003919.3(SGCE):c.384C>T (p.Ile128=)
NM_003919.3(SGCE):c.390+10A>G
NM_003919.3(SGCE):c.390+12C>G
NM_003919.3(SGCE):c.390+14A>C
NM_003919.3(SGCE):c.391-18G>C	rs199922447
NM_003919.3(SGCE):c.391-19G>A	rs2116919102
NM_003919.3(SGCE):c.39T>C (p.Cys13=)	rs2117138280
NM_003919.3(SGCE):c.405C>T (p.Asn135=)	rs2116918607
NM_003919.3(SGCE):c.436T>A (p.Leu146Met)	rs752074255
NM_003919.3(SGCE):c.436T>C (p.Leu146=)	rs752074255
NM_003919.3(SGCE):c.463+12A>T
NM_003919.3(SGCE):c.463+13A>T
NM_003919.3(SGCE):c.463+15_463+16del
NM_003919.3(SGCE):c.463+17G>A
NM_003919.3(SGCE):c.463+19T>C	rs759488852
NM_003919.3(SGCE):c.463+20G>T
NM_003919.3(SGCE):c.464-14T>A	rs187568437
NM_003919.3(SGCE):c.464-14T>C
NM_003919.3(SGCE):c.464-20C>T
NM_003919.3(SGCE):c.513A>G (p.Val171=)
NM_003919.3(SGCE):c.51A>G (p.Gly17=)	rs2117138100
NM_003919.3(SGCE):c.561G>A (p.Val187=)	rs1194137933
NM_003919.3(SGCE):c.561G>C (p.Val187=)
NM_003919.3(SGCE):c.567T>C (p.Asn189=)	rs1802334402
NM_003919.3(SGCE):c.579A>G (p.Pro193=)
NM_003919.3(SGCE):c.600C>T (p.Asn200=)	rs2116881251
NM_003919.3(SGCE):c.606A>C (p.Thr202=)	rs148979783
NM_003919.3(SGCE):c.609G>A (p.Ser203=)
NM_003919.3(SGCE):c.662+19C>T
NM_003919.3(SGCE):c.663-19G>T
NM_003919.3(SGCE):c.663-5T>C	rs748327900
NM_003919.3(SGCE):c.66A>G (p.Thr22=)
NM_003919.3(SGCE):c.736T>C (p.Leu246=)
NM_003919.3(SGCE):c.783A>G (p.Lys261=)
NM_003919.3(SGCE):c.81C>T (p.Pro27=)	rs1318367897
NM_003919.3(SGCE):c.822A>T (p.Ser274=)
NM_003919.3(SGCE):c.825+12T>C
NM_003919.3(SGCE):c.825+12T>G
NM_003919.3(SGCE):c.825+17T>C
NM_003919.3(SGCE):c.825+19T>A	rs777735591
NM_003919.3(SGCE):c.826-6T>C
NM_003919.3(SGCE):c.828T>G (p.Val276=)
NM_003919.3(SGCE):c.831T>C (p.Asp277=)
NM_003919.3(SGCE):c.837A>T (p.Thr279=)
NM_003919.3(SGCE):c.852C>G (p.Thr284=)
NM_003919.3(SGCE):c.876G>A (p.Glu292=)
NM_003919.3(SGCE):c.912T>G (p.Pro304=)	rs1463065030
NM_003919.3(SGCE):c.996T>C (p.Phe332=)

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