ClinVar Miner

List of variants in gene SCN1A reported as benign for not provided

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Gene type:
ClinVar version:
Total variants: 100
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HGVS dbSNP gnomAD frequency
NM_001165963.4(SCN1A):c.-49-34A>T rs566839 0.98809
NM_001165963.4(SCN1A):c.2589+208A>G rs1019724 0.74828
NM_001165963.4(SCN1A):c.2416-256C>T rs1019722 0.74053
NM_001165963.4(SCN1A):c.1171-270G>T rs13421166 0.73932
NM_001165963.4(SCN1A):c.1029-68C>T rs1461193 0.73918
NM_001165963.4(SCN1A):c.2416-181A>C rs6432859 0.73910
NM_001165963.4(SCN1A):c.2043+301C>T rs7574618 0.73909
NM_001165963.4(SCN1A):c.2044-168A>T rs10167228 0.73906
NM_001165963.4(SCN1A):c.2292T>C (p.Val764=) rs6432860 0.73885
NM_001165963.4(SCN1A):c.1663-47T>G rs6753355 0.73880
NM_001165963.4(SCN1A):c.2947-41C>T rs7601520 0.73875
NM_001165963.4(SCN1A):c.2946+56A>G rs2020318 0.73869
NM_001165963.4(SCN1A):c.2590-239A>G rs6719077 0.73687
NM_001165963.4(SCN1A):c.603-106G>T rs3812719 0.67746
NM_001165963.4(SCN1A):c.964+258G>A rs6735104 0.66191
NM_001165963.4(SCN1A):c.1212A>G (p.Val404=) rs7580482 0.66162
NM_001165963.4(SCN1A):c.1378-266T>A rs992894 0.66153
NM_001165963.4(SCN1A):c.265-137G>T rs10930201 0.66082
NM_001165963.4(SCN1A):c.694+258G>A rs1841546 0.49844
NM_001165963.4(SCN1A):c.694+232_694+233insA rs367905968 0.49114
NM_001165963.4(SCN1A):c.2589+172T>C rs1019723 0.48517
NM_001165963.4(SCN1A):c.1377+52G>A rs6432861 0.48236
NM_001165963.4(SCN1A):c.965-113A>T rs1542483 0.48229
NM_001165963.4(SCN1A):c.1171-174A>G rs13383628 0.48214
NM_001165963.4(SCN1A):c.1028+21T>C rs1542484 0.48206
NM_001165963.4(SCN1A):c.1170+112C>T rs11690959 0.48005
NM_001165963.4(SCN1A):c.603-242T>C rs2217199 0.47972
NM_001165963.4(SCN1A):c.473+164G>A rs1461203 0.46950
NM_001165963.4(SCN1A):c.383+185T>C rs7564306 0.46949
NM_001165963.4(SCN1A):c.474-310A>G rs1541783 0.25870
NM_001165963.4(SCN1A):c.1170+75C>A rs11690962 0.25866
NM_001165963.4(SCN1A):c.2589+114T>C rs10168027 0.25833
NM_001165963.4(SCN1A):c.2177-38C>A rs10198801 0.25381
NM_001165963.4(SCN1A):c.965-215T>C rs6432863 0.24269
NM_001165963.4(SCN1A):c.383+66T>C rs8191987 0.18995
NM_001165963.4(SCN1A):c.2177-270A>G rs6731591 0.18963
NM_001165963.4(SCN1A):c.964+116A>T rs6750294 0.18177
NM_001165963.4(SCN1A):c.964+199T>G rs6706163 0.18121
NM_001165963.4(SCN1A):c.2590-285A>G rs79990586 0.18055
NM_001165963.4(SCN1A):c.965-310G>C rs994398 0.12911
NM_001165963.4(SCN1A):c.694+184G>A rs10497277 0.03940
NM_001165963.4(SCN1A):c.345T>C (p.Asn115=) rs61741123 0.03029
NM_001165963.4(SCN1A):c.2043+107G>A rs111489104 0.02925
NM_001165963.4(SCN1A):c.1029-177C>T rs77256975 0.02834
NM_001165963.4(SCN1A):c.383+335G>A rs79554951 0.02047
NM_001165963.4(SCN1A):c.474-113T>C rs10930200 0.02027
NM_001165963.4(SCN1A):c.964+41T>A rs74655577 0.01978
NM_001165963.4(SCN1A):c.2177-10C>T rs199507113 0.00579
NM_001165963.4(SCN1A):c.1131A>C (p.Arg377=) rs114137271 0.00322
NM_001165963.4(SCN1A):c.2889T>C (p.Ala963=) rs144679294 0.00321
NM_001165963.4(SCN1A):c.1029-47A>G rs201418120 0.00096
NM_001165963.4(SCN1A):c.1811G>A (p.Arg604His) rs121918769 0.00087
NM_001165963.4(SCN1A):c.2421C>T (p.Phe807=) rs145101180 0.00062
NM_001165963.4(SCN1A):c.1000C>G (p.Leu334Val) rs201870762 0.00030
NM_001165963.4(SCN1A):c.694+10A>G rs373417440 0.00019
NM_001165963.4(SCN1A):c.1378-3T>C rs150964803 0.00016
NM_001165963.4(SCN1A):c.1797G>A (p.Glu599=) rs145035963 0.00016
NM_001165963.4(SCN1A):c.2946+19T>C rs180873219 0.00008
NM_001165963.4(SCN1A):c.2177-29G>C rs763828472 0.00006
NM_001165963.4(SCN1A):c.1029-12C>T rs772513720 0.00001
NM_001165963.4(SCN1A):c.2236T>C (p.Leu746=) rs753714341 0.00001
GRCh37/hg19 2q24.3(chr2:166821406-166911866)x3
GRCh37/hg19 2q24.3(chr2:166821406-166939893)x3
GRCh37/hg19 2q24.3(chr2:166844240-166879265)x3
GRCh37/hg19 2q24.3(chr2:166844240-166914593)x3
GRCh37/hg19 2q24.3(chr2:166844240-166939277)x3
GRCh37/hg19 2q24.3(chr2:166845794-166917408)x3
GRCh37/hg19 2q24.3(chr2:166845794-166940301)x3
GRCh37/hg19 2q24.3(chr2:166849203-166924472)x3
GRCh37/hg19 2q24.3(chr2:166849955-166866307)x1
GRCh37/hg19 2q24.3(chr2:166851429-166869198)x3
GRCh37/hg19 2q24.3(chr2:166851429-166869446)x3
GRCh37/hg19 2q24.3(chr2:166851429-166882828)x3
GRCh37/hg19 2q24.3(chr2:166851429-166939893)x3
GRCh37/hg19 2q24.3(chr2:166851429-166940301)x3
GRCh37/hg19 2q24.3(chr2:166854158-166866307)x1
GRCh37/hg19 2q24.3(chr2:166854158-166869198)x3
GRCh37/hg19 2q24.3(chr2:166854158-166879265)x1
GRCh37/hg19 2q24.3(chr2:166905375-166909104)x4
GRCh37/hg19 2q24.3(chr2:166905572-166911685)x3
GRCh37/hg19 2q24.3(chr2:166999968-167000966)x1
NM_001165963.4(SCN1A):c.1028+112C>A rs77450394
NM_001165963.4(SCN1A):c.1377+92T>G rs538921
NM_001165963.4(SCN1A):c.1378-152del rs5836074
NM_001165963.4(SCN1A):c.1539A>G (p.Glu513=) rs587781144
NM_001165963.4(SCN1A):c.2177-11dup rs11394960
NM_001165963.4(SCN1A):c.2589+16_2589+19del rs3032638
NM_001165963.4(SCN1A):c.2589+17_2589+19del rs3032638
NM_001165963.4(SCN1A):c.2589+18_2589+19del rs3032638
NM_001165963.4(SCN1A):c.2589+221_2589+224del rs6147014
NM_001165963.4(SCN1A):c.265-2137C>T
NM_001165963.4(SCN1A):c.2946+112dup rs67819222
NM_001165963.4(SCN1A):c.2946+120del rs67819222
NM_001165963.4(SCN1A):c.2946+162_2946+165del rs66463257
NM_001165963.4(SCN1A):c.602+269CA[3] rs66512822
NM_001165963.4(SCN1A):c.602+6_602+7dup rs577627288
NM_001165963.4(SCN1A):c.694+224dup rs1553550372
NM_001165963.4(SCN1A):c.694+227_694+228dup rs34747425
NM_001165963.4(SCN1A):c.694+227dup rs34747425
NM_001165963.4(SCN1A):c.964+104_964+110del rs200369264

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