List of variants reported as pathogenic for Myoclonic dystonia 11

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

Total variants: 121

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HGVS	dbSNP	gnomAD frequency
NM_003919.3(SGCE):c.21G>A (p.Trp7Ter)	rs201378067	0.00005
NM_003919.3(SGCE):c.1114C>T (p.Arg372Ter)	rs121908492	0.00001
NM_003919.3(SGCE):c.304C>T (p.Arg102Ter)	rs121908490	0.00001
NM_003919.3(SGCE):c.771_772del (p.Thr257_Cys258insTer)	rs794727794	0.00001
GRCh37/hg19 7q21.3(chr7:93516132-95668733)
NC_000007.13:g.(?_94228081)_(94232770_?)del
NC_000007.13:g.(?_94232582)_(94232784_?)del
NC_000007.13:g.(?_94248050)_(94248288_?)del
NC_000007.13:g.(?_94248050)_(94252729_?)del
NC_000007.13:g.(?_94252617)_(94252729_?)del
NC_000007.13:g.(?_94252627)_(94252719_?)del
NC_000007.13:g.(?_94257494)_(94285410_?)del
NC_000007.13:g.(?_94285282)_(94285410_?)del
NC_000007.14:g.(?_94395012)_(94656118_?)del
NC_000007.14:g.(?_94598775)_(94603452_?)del
NC_000007.14:g.(?_94628182)_(94628379_?)del
NM_003919.2(SGCE):c.464_662del
NM_003919.3(SGCE):c.1011del (p.Ala336_Tyr337insTer)	rs2116693521
NM_003919.3(SGCE):c.1024C>T (p.Arg342Ter)
NM_003919.3(SGCE):c.1042_1043del (p.Lys348fs)
NM_003919.3(SGCE):c.1058_1062del (p.Thr353fs)
NM_003919.3(SGCE):c.109+1G>A	rs1808615750
NM_003919.3(SGCE):c.109+2T>C	rs2117137466
NM_003919.3(SGCE):c.1150_1151del (p.Leu384fs)
NM_003919.3(SGCE):c.1151del (p.Leu384fs)
NM_003919.3(SGCE):c.1154_1178del (p.Leu384_Ser385insTer)
NM_003919.3(SGCE):c.117dup (p.Ile40fs)
NM_003919.3(SGCE):c.1208_1209del (p.Thr403fs)
NM_003919.3(SGCE):c.1210_1213del (p.Asp404fs)	rs886039595
NM_003919.3(SGCE):c.1296dup (p.Gly433fs)	rs2116568066
NM_003919.3(SGCE):c.129_130delinsT (p.Lys43fs)	rs1804394258
NM_003919.3(SGCE):c.153C>G (p.Tyr51Ter)	rs2116972912
NM_003919.3(SGCE):c.158C>A (p.Ser53Ter)
NM_003919.3(SGCE):c.191_197dup (p.Tyr66Ter)	rs2116972508
NM_003919.3(SGCE):c.193_194del (p.Glu65fs)	rs2116972578
NM_003919.3(SGCE):c.208G>T (p.Glu70Ter)
NM_003919.3(SGCE):c.232+1G>C
NM_003919.3(SGCE):c.232+1G>T	rs1057517990
NM_003919.3(SGCE):c.235G>T (p.Glu79Ter)
NM_003919.3(SGCE):c.252_253del (p.Ile85fs)
NM_003919.3(SGCE):c.272T>G (p.Leu91Ter)
NM_003919.3(SGCE):c.289C>T (p.Arg97Ter)	rs121908489
NM_003919.3(SGCE):c.300del (p.Trp100fs)	rs1554358727
NM_003919.3(SGCE):c.314A>G (p.Gln105Arg)	rs1584692239
NM_003919.3(SGCE):c.321del (p.Pro108fs)	rs2116959244
NM_003919.3(SGCE):c.344A>G (p.Tyr115Cys)	rs2116958989
NM_003919.3(SGCE):c.353dup (p.Thr119fs)
NM_003919.3(SGCE):c.37_38insA (p.Cys13Ter)	rs766778442
NM_003919.3(SGCE):c.391-1G>A	rs1803142505
NM_003919.3(SGCE):c.391-1G>T
NM_003919.3(SGCE):c.391-2A>T
NM_003919.3(SGCE):c.391-82_405del
NM_003919.3(SGCE):c.402C>A (p.Tyr134Ter)	rs1554355416
NM_003919.3(SGCE):c.444_447del (p.Ile148_Asn149insTer)	rs1584663425
NM_003919.3(SGCE):c.448_452del (p.Ile150fs)	rs2116918021
NM_003919.3(SGCE):c.463+1G>A	rs1584663290
NM_003919.3(SGCE):c.463+2T>A	rs2116917821
NM_003919.3(SGCE):c.470del (p.Pro157fs)	rs1554353106
NM_003919.3(SGCE):c.483del (p.Ala162fs)
NM_003919.3(SGCE):c.495_498del (p.Phe165fs)	rs2116882526
NM_003919.3(SGCE):c.521del (p.Met174fs)	rs2116882157
NM_003919.3(SGCE):c.551T>C (p.Leu184Pro)	rs1064794321
NM_003919.3(SGCE):c.559del (p.Ala186_Val187insTer)	rs1554352906
NM_003919.3(SGCE):c.571_572del (p.Trp191fs)	rs2116881558
NM_003919.3(SGCE):c.579del (p.Glu194fs)
NM_003919.3(SGCE):c.580del (p.Glu194fs)	rs2116881481
NM_003919.3(SGCE):c.587T>G (p.Leu196Arg)	rs121908491
NM_003919.3(SGCE):c.604dup (p.Thr202fs)	rs2116881189
NM_003919.3(SGCE):c.610del (p.Ala204fs)	rs1584637958
NM_003919.3(SGCE):c.619_620del (p.Arg207fs)	rs863223285
NM_003919.3(SGCE):c.619del (p.Arg207fs)	rs1554352819
NM_003919.3(SGCE):c.623_650del (p.Gly208fs)	rs2116880618
NM_003919.3(SGCE):c.639dup (p.Pro214fs)
NM_003919.3(SGCE):c.658del (p.Glu220fs)	rs2116880537
NM_003919.3(SGCE):c.662G>T (p.Gly221Val)	rs2116880447
NM_003919.3(SGCE):c.663-2A>T	rs2116724997
NM_003919.3(SGCE):c.663-6109_825+550del
NM_003919.3(SGCE):c.663del (p.Val222fs)	rs1562812370
NM_003919.3(SGCE):c.667del (p.Tyr223fs)	rs1057519246
NM_003919.3(SGCE):c.703dup (p.Cys235fs)
NM_003919.3(SGCE):c.704_707del (p.Cys235fs)	rs2116724268
NM_003919.3(SGCE):c.709C>T (p.Arg237Ter)	rs398123812
NM_003919.3(SGCE):c.721_728dup (p.Asn244fs)
NM_003919.3(SGCE):c.723_724dup (p.Pro242fs)	rs2116723835
NM_003919.3(SGCE):c.727C>T (p.Gln243Ter)	rs1554345170
NM_003919.3(SGCE):c.733C>T (p.Gln245Ter)	rs1554345162
NM_003919.3(SGCE):c.734_737del (p.Gln245fs)
NM_003919.3(SGCE):c.742dup (p.Cys248fs)
NM_003919.3(SGCE):c.751G>T (p.Glu251Ter)	rs2116723386
NM_003919.3(SGCE):c.753_754dup (p.Met252fs)
NM_003919.3(SGCE):c.774_775del (p.Cys258_Asp259delinsTer)
NM_003919.3(SGCE):c.778A>T (p.Lys260Ter)
NM_003919.3(SGCE):c.783dup (p.Phe262fs)	rs1189469219
NM_003919.3(SGCE):c.786del (p.Arg263fs)	rs1584546238
NM_003919.3(SGCE):c.793C>T (p.Gln265Ter)	rs1584546131
NM_003919.3(SGCE):c.795del (p.Gln265fs)	rs1554345077
NM_003919.3(SGCE):c.799del (p.Tyr267fs)	rs1799563986
NM_003919.3(SGCE):c.802dup (p.Ile268fs)	rs2116722561
NM_003919.3(SGCE):c.809G>A (p.Trp270Ter)
NM_003919.3(SGCE):c.810G>A (p.Trp270Ter)	rs1562811414
NM_003919.3(SGCE):c.812G>A (p.Cys271Tyr)	rs372686312
NM_003919.3(SGCE):c.813C>A (p.Cys271Ter)	rs2116722345
NM_003919.3(SGCE):c.825+1G>T
NM_003919.3(SGCE):c.825+1_825+2del	rs1554345052
NM_003919.3(SGCE):c.835_839del (p.Thr279fs)	rs863223283
NM_003919.3(SGCE):c.841C>T (p.Gln281Ter)	rs1562806242
NM_003919.3(SGCE):c.850del (p.Thr284fs)	rs2116695873
NM_003919.3(SGCE):c.865_866insGCAGGAAGTGA (p.Ile289delinsSerArgLysTer)	rs2116695697
NM_003919.3(SGCE):c.880dup (p.Ile294fs)	rs1562805960
NM_003919.3(SGCE):c.884dup (p.Leu295fs)	rs863223284
NM_003919.3(SGCE):c.895G>T (p.Gly299Ter)	rs765792098
NM_003919.3(SGCE):c.896dup (p.Glu300fs)
NM_003919.3(SGCE):c.898_899del (p.Glu300fs)
NM_003919.3(SGCE):c.898_925del (p.Glu300fs)
NM_003919.3(SGCE):c.903C>A (p.Tyr301Ter)	rs1322313531
NM_003919.3(SGCE):c.904_908dup (p.Pro304fs)	rs2116694965
NM_003919.3(SGCE):c.923T>A (p.Leu308Ter)
NM_003919.3(SGCE):c.942C>A (p.Tyr314Ter)	rs2116694543
NM_003919.3(SGCE):c.942C>G (p.Tyr314Ter)	rs2116694543
NM_003919.3(SGCE):c.946del (p.Asp316fs)
NM_003919.3(SGCE):c.974del (p.Ser325fs)	rs1584531843

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