List of variants reported as benign for myotonic syndrome

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

Total variants: 125

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HGVS	dbSNP	gnomAD frequency
NM_000334.4(SCN4A):c.1570A>G (p.Ser524Gly)	rs6504191	0.91477
NM_000334.4(SCN4A):c.*710T>C	rs2532111	0.67728
NM_000334.4(SCN4A):c.4126A>G (p.Asn1376Asp)	rs2058194	0.59717
NM_004409.5(DMPK):c.581+6T>C	rs1799894	0.53545
NM_000334.4(SCN4A):c.4869A>G (p.Thr1623=)	rs2070720	0.43390
NM_000334.4(SCN4A):c.3318+12C>A	rs13341114	0.26769
NM_000334.4(SCN4A):c.*1427T>C	rs2727278	0.18159
NM_000334.4(SCN4A):c.*1271T>A	rs2727277	0.18122
NM_000334.4(SCN4A):c.*22A>G	rs2228995	0.17899
NM_000334.4(SCN4A):c.4539C>A (p.Ile1513=)	rs56342400	0.16783
NM_000334.4(SCN4A):c.5478T>G (p.Thr1826=)	rs2227906	0.15916
NM_000334.4(SCN4A):c.5403C>T (p.Ala1801=)	rs2227907	0.12581
NM_000334.4(SCN4A):c.*563G>A	rs2532112	0.08626
NM_000334.4(SCN4A):c.2631T>C (p.Asp877=)	rs79893125	0.08466
NM_000334.4(SCN4A):c.*1737A>G	rs16947276	0.06978
NM_000334.4(SCN4A):c.864C>T (p.Asn288=)	rs7218917	0.06188
NM_000334.4(SCN4A):c.*1357A>G	rs113012761	0.05971
NM_000334.4(SCN4A):c.*122G>A	rs2228997	0.05774
NM_000334.4(SCN4A):c.366C>T (p.Arg122=)	rs41280108	0.04121
NM_000334.4(SCN4A):c.1167T>C (p.Tyr389=)	rs16947296	0.03818
NM_000334.4(SCN4A):c.2919C>T (p.Pro973=)	rs73992419	0.03148
NM_000334.4(SCN4A):c.4288+10G>T	rs114059193	0.03137
NM_000334.4(SCN4A):c.3720+10A>G	rs111679484	0.02281
NM_000334.4(SCN4A):c.*1611A>G	rs16947280	0.02126
NM_000334.4(SCN4A):c.2989+5G>A	rs115695396	0.02066
NM_000334.4(SCN4A):c.3759C>T (p.Ala1253=)	rs72851170	0.01961
NM_000334.4(SCN4A):c.726C>T (p.Ala242=)	rs73326368	0.01791
NM_000334.4(SCN4A):c.4017+15G>T	rs77844100	0.01755
NM_000334.4(SCN4A):c.*1368G>C	rs113385942	0.01686
NM_000334.4(SCN4A):c.4905C>T (p.Ile1635=)	rs59081944	0.01571
NM_000334.4(SCN4A):c.*332C>T	rs77962116	0.01507
NM_000334.4(SCN4A):c.2289C>T (p.Ile763=)	rs76894284	0.01359
NM_000334.4(SCN4A):c.*1989C>T	rs77615646	0.00968
NM_000334.4(SCN4A):c.489C>G (p.Thr163=)	rs146590697	0.00848
NM_000334.4(SCN4A):c.3720+9G>T	rs9303466	0.00769
NM_000334.4(SCN4A):c.*1088A>G	rs77725962	0.00759
NM_000334.4(SCN4A):c.3441+7G>A	rs142270113	0.00738
NM_000334.4(SCN4A):c.5499G>A (p.Glu1833=)	rs116469710	0.00716
NM_000334.4(SCN4A):c.*1215G>A	rs112758825	0.00696
NM_000334.4(SCN4A):c.241G>C (p.Glu81Gln)	rs111926172	0.00509
NM_000334.4(SCN4A):c.92G>T (p.Arg31Leu)	rs112142736	0.00506
NM_000334.4(SCN4A):c.*129G>T	rs140026321	0.00401
NM_000334.4(SCN4A):c.2645C>A (p.Pro882Gln)	rs111858905	0.00367
NM_000334.4(SCN4A):c.1796A>G (p.His599Arg)	rs187401185	0.00343
NM_000334.4(SCN4A):c.*1324T>C	rs544883913	0.00256
NM_000334.4(SCN4A):c.*1828A>G	rs79003915	0.00233
NM_000334.4(SCN4A):c.355G>A (p.Val119Ile)	rs41280110	0.00232
NM_000334.4(SCN4A):c.1100+7G>A	rs200770684	0.00212
NM_000334.4(SCN4A):c.2722G>A (p.Glu908Lys)	rs117664682	0.00186
NM_000334.4(SCN4A):c.4215C>T (p.Leu1405=)	rs141215137	0.00153
NM_000334.4(SCN4A):c.2623C>T (p.Pro875Ser)	rs201148948	0.00134
NM_000334.4(SCN4A):c.2854-5C>T	rs374039266	0.00133
NM_000334.4(SCN4A):c.2890G>A (p.Val964Ile)	rs200947169	0.00117
NM_000334.4(SCN4A):c.1011T>C (p.Asp337=)	rs372791798	0.00112
NM_000334.4(SCN4A):c.*2170G>A	rs569759069	0.00108
NM_000334.4(SCN4A):c.4690G>A (p.Val1564Ile)	rs202106192	0.00108
NM_000334.4(SCN4A):c.*2150C>A	rs182791237	0.00105
NM_000334.4(SCN4A):c.2478C>T (p.Ile826=)	rs371914255	0.00105
NM_000334.4(SCN4A):c.*2072G>A	rs192346663	0.00099
NM_000334.4(SCN4A):c.1462G>A (p.Ala488Thr)	rs185941768	0.00059
NM_000334.4(SCN4A):c.952T>C (p.Trp318Arg)	rs199676994	0.00059
NM_000334.4(SCN4A):c.999C>T (p.Asn333=)	rs149726115	0.00056
NM_000334.4(SCN4A):c.5274C>T (p.His1758=)	rs113418988	0.00051
NM_000334.4(SCN4A):c.951A>G (p.Ser317=)	rs185246154	0.00044
NM_000334.4(SCN4A):c.403A>C (p.Met135Leu)	rs148028364	0.00042
NM_000334.4(SCN4A):c.3429C>T (p.Phe1143=)	rs373597946	0.00038
NM_000334.4(SCN4A):c.2592C>T (p.Ala864=)	rs200354336	0.00036
NM_000334.4(SCN4A):c.1845+7A>C	rs141021600	0.00028
NM_000334.4(SCN4A):c.5181G>A (p.Glu1727=)	rs368263333	0.00027
NM_000334.4(SCN4A):c.1653C>T (p.Cys551=)	rs201199086	0.00026
NM_000334.4(SCN4A):c.2995G>A (p.Val999Met)	rs377277110	0.00026
NM_000334.4(SCN4A):c.4048G>A (p.Val1350Met)	rs200274258	0.00026
NM_000334.4(SCN4A):c.1430A>G (p.Lys477Arg)	rs182691342	0.00021
NM_000334.4(SCN4A):c.2704G>A (p.Gly902Ser)	rs200517944	0.00021
NM_000334.4(SCN4A):c.*304G>A	rs545908155	0.00017
NM_000334.4(SCN4A):c.*86G>T	rs566876110	0.00017
NM_000334.4(SCN4A):c.3360G>A (p.Ser1120=)	rs377187913	0.00017
NM_000334.4(SCN4A):c.1018G>A (p.Ala340Thr)	rs147936148	0.00011
NM_000334.4(SCN4A):c.1288A>G (p.Ile430Val)	rs149907018	0.00011
NM_000334.4(SCN4A):c.2563A>G (p.Met855Val)	rs372019457	0.00011
NM_000334.4(SCN4A):c.-33C>T	rs575313119	0.00010
NM_000334.4(SCN4A):c.1100+15G>A	rs533321924	0.00010
NM_000334.4(SCN4A):c.*1916C>T	rs139537251	0.00009
NM_000334.4(SCN4A):c.1120G>A (p.Glu374Lys)	rs766463226	0.00009
NM_000334.4(SCN4A):c.2646G>A (p.Pro882=)	rs538173069	0.00009
NM_000334.4(SCN4A):c.4886C>T (p.Pro1629Leu)	rs202102815	0.00009
NM_000334.4(SCN4A):c.2862G>A (p.Pro954=)	rs375375167	0.00008
NM_000334.4(SCN4A):c.2793C>T (p.Ser931=)	rs201036204	0.00007
NM_000334.4(SCN4A):c.5404G>A (p.Gly1802Arg)	rs267604988	0.00007
NM_000334.4(SCN4A):c.4711C>T (p.Pro1571Ser)	rs772552529	0.00005
NM_000334.4(SCN4A):c.-74G>A	rs546675124	0.00004
NM_000334.4(SCN4A):c.1413G>A (p.Met471Ile)	rs527384137	0.00004
NM_000334.4(SCN4A):c.4581C>A (p.Ile1527=)	rs752523459	0.00004
NM_000334.4(SCN4A):c.1995G>T (p.Leu665=)	rs189925781	0.00003
NM_000334.4(SCN4A):c.3386G>A (p.Arg1129Gln)	rs527236149	0.00003
NM_000334.4(SCN4A):c.5191G>A (p.Ala1731Thr)	rs371104286	0.00003
NM_000334.4(SCN4A):c.4783G>A (p.Ala1595Thr)	rs761947899	0.00001
NM_000334.4(SCN4A):c.5000C>T (p.Pro1667Leu)	rs765721076	0.00001
NM_000334.4(SCN4A):c.5293G>A (p.Ala1765Thr)	rs531694454	0.00001
NC_000019.9:g.46273465GCA[(?_35)]
NM_000334.4(SCN4A):c.*1384ATATATGTGT[3]	rs112489358
NM_000334.4(SCN4A):c.*1679TG[7]	rs66908473
NM_000334.4(SCN4A):c.*2169C>G	rs191754378
NM_000334.4(SCN4A):c.*981G>A	rs144800677
NM_000334.4(SCN4A):c.483-5C>A	rs191547933
NM_000334.4(SCN4A):c.483-9C>A	rs201552497
NM_000334.4(SCN4A):c.5284G>A (p.Gly1762Arg)	rs763493738
NM_000334.4(SCN4A):c.52C>T (p.Arg18Cys)	rs78592515
NM_001081563.1(DMPK):c.224_226CTG[(5-34)]
NM_003418.5(CNBP):c.156C>T (p.Asp52=)	rs4303883
NM_004409.4(DMPK):c.*224CTG[(35_49)]
NM_004409.5(DMPK):c.*224CTG[17]
NM_004409.5(DMPK):c.*224CTG[19]
NM_004409.5(DMPK):c.*224CTG[1]
NM_004409.5(DMPK):c.*224CTG[21]
NM_004409.5(DMPK):c.*224CTG[22]
NM_004409.5(DMPK):c.*224CTG[23]
NM_004409.5(DMPK):c.*224CTG[24]
NM_004409.5(DMPK):c.*224CTG[25]
NM_004409.5(DMPK):c.*224CTG[27]
NM_004409.5(DMPK):c.*224CTG[28]
NM_004409.5(DMPK):c.*224CTG[29]
NM_004409.5(DMPK):c.*224CTG[30]
NM_004409.5(DMPK):c.*224CTG[32]
NM_004409.5(DMPK):c.224_283=

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