ClinVar Miner

List of variants in gene SCN1A reported as pathogenic by GeneDx

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Gene type:
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Total variants: 144
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HGVS dbSNP gnomAD frequency
NM_001165963.4(SCN1A):c.2576G>A (p.Arg859His) rs398123588 0.00001
GRCh37/hg19 2q24.3(chr2:166847469-166930620)x1
GRCh37/hg19 2q24.3(chr2:166847469-166931348)x1
GRCh37/hg19 2q24.3(chr2:166894421-166903728)x1
GRCh38/hg38 2q24.3(chr2:166044436-166079787)x1
NM_001165963.4(SCN1A):c.1028+1del rs886041980
NM_001165963.4(SCN1A):c.1034G>T (p.Cys345Phe) rs1057518243
NM_001165963.4(SCN1A):c.1053dup (p.Val352fs) rs796053106
NM_001165963.4(SCN1A):c.1076A>G (p.Asn359Ser) rs794726713
NM_001165963.4(SCN1A):c.1076A>T (p.Asn359Ile) rs794726713
NM_001165963.4(SCN1A):c.1119del (p.Leu373fs) rs886041939
NM_001165963.4(SCN1A):c.1129C>T (p.Arg377Ter) rs794726799
NM_001165963.4(SCN1A):c.1130G>T (p.Arg377Leu)
NM_001165963.4(SCN1A):c.1139del (p.Thr380fs) rs796053047
NM_001165963.4(SCN1A):c.1150T>A (p.Trp384Arg) rs1057523858
NM_001165963.4(SCN1A):c.1151G>A (p.Trp384Ter) rs1553547380
NM_001165963.4(SCN1A):c.1162T>C (p.Tyr388His) rs121918781
NM_001165963.4(SCN1A):c.1170+1G>A rs794726765
NM_001165963.4(SCN1A):c.1170+1G>T rs794726765
NM_001165963.4(SCN1A):c.1177C>T (p.Arg393Cys) rs121917929
NM_001165963.4(SCN1A):c.1178G>A (p.Arg393His) rs121917927
NM_001165963.4(SCN1A):c.1192del (p.Thr398fs) rs796053055
NM_001165963.4(SCN1A):c.1230del (p.Ser411fs) rs1064796087
NM_001165963.4(SCN1A):c.1247_1248insGTAGA (p.Asn416delinsLysTer) rs796053056
NM_001165963.4(SCN1A):c.1264G>A (p.Val422Met) rs886042528
NM_001165963.4(SCN1A):c.1277A>G (p.Tyr426Cys) rs796052973
NM_001165963.4(SCN1A):c.1294G>C (p.Ala432Pro) rs1697892980
NM_001165963.4(SCN1A):c.1344dup (p.Glu449Ter) rs1064793803
NM_001165963.4(SCN1A):c.1347del (p.Glu449fs) rs1064794147
NM_001165963.4(SCN1A):c.1348C>T (p.Gln450Ter) rs796052976
NM_001165963.4(SCN1A):c.1354A>T (p.Lys452Ter) rs1553546668
NM_001165963.4(SCN1A):c.1377+1del rs1057518129
NM_001165963.4(SCN1A):c.1378C>T (p.Gln460Ter) rs1559221910
NM_001165963.4(SCN1A):c.140del (p.Asn47fs) rs796053075
NM_001165963.4(SCN1A):c.141del (p.Asn47fs) rs796053076
NM_001165963.4(SCN1A):c.1430del (p.Gly477fs) rs796053057
NM_001165963.4(SCN1A):c.1462_1466del (p.Lys488fs) rs1553545742
NM_001165963.4(SCN1A):c.1511_1515del (p.Arg504fs) rs1553545660
NM_001165963.4(SCN1A):c.1518_1522del (p.Lys507fs) rs796053058
NM_001165963.4(SCN1A):c.1537dup (p.Glu513fs) rs796053059
NM_001165963.4(SCN1A):c.1624C>T (p.Arg542Ter)
NM_001165963.4(SCN1A):c.1662+1G>A rs794726749
NM_001165963.4(SCN1A):c.1662+2T>C rs1131691545
NM_001165963.4(SCN1A):c.1662G>A (p.Gln554=) rs796052977
NM_001165963.4(SCN1A):c.1662G>C (p.Gln554His) rs796052977
NM_001165963.4(SCN1A):c.1663-2A>C rs1085307520
NM_001165963.4(SCN1A):c.1702C>T (p.Arg568Ter) rs886039430
NM_001165963.4(SCN1A):c.1738C>T (p.Arg580Ter) rs794726736
NM_001165963.4(SCN1A):c.1739_1742dup (p.Lys582fs) rs796053060
NM_001165963.4(SCN1A):c.1819del (p.Ser607fs) rs796053062
NM_001165963.4(SCN1A):c.1837C>T (p.Arg613Ter) rs398123585
NM_001165963.4(SCN1A):c.1852del (p.Arg618fs) rs796053064
NM_001165963.4(SCN1A):c.1853_1854del (p.Arg618fs) rs886041644
NM_001165963.4(SCN1A):c.185_189dup (p.Ile64fs) rs1064795078
NM_001165963.4(SCN1A):c.2134C>T (p.Arg712Ter) rs794726730
NM_001165963.4(SCN1A):c.2177-1G>T rs763400390
NM_001165963.4(SCN1A):c.2213G>A (p.Trp738Ter) rs794726742
NM_001165963.4(SCN1A):c.2214G>A (p.Trp738Ter) rs786205214
NM_001165963.4(SCN1A):c.2331del (p.Ile776_Cys777insTer) rs886041969
NM_001165963.4(SCN1A):c.2334_2335insTTCCCCTTGTATT (p.Val779fs) rs1064794503
NM_001165963.4(SCN1A):c.2339_2340insTAT (p.Leu780delinsPheIle) rs796053066
NM_001165963.4(SCN1A):c.235G>A (p.Asp79Asn) rs121917982
NM_001165963.4(SCN1A):c.2415+1G>C rs886041292
NM_001165963.4(SCN1A):c.2416-1G>T rs1553542421
NM_001165963.4(SCN1A):c.2498dup (p.Asn833fs) rs886041937
NM_001165963.4(SCN1A):c.251A>G (p.Tyr84Cys) rs121917964
NM_001165963.4(SCN1A):c.2569del (p.Val857fs) rs796053065
NM_001165963.4(SCN1A):c.2575C>T (p.Arg859Cys) rs121918784
NM_001165963.4(SCN1A):c.2589+1G>T rs1057517849
NM_001165963.4(SCN1A):c.2589+3A>T rs794726775
NM_001165963.4(SCN1A):c.2593C>T (p.Arg865Ter) rs794726697
NM_001165963.4(SCN1A):c.265-1G>A rs796052953
NM_001165963.4(SCN1A):c.2686_2694del (p.Val896_Ala898del) rs797044981
NM_001165963.4(SCN1A):c.2713G>A (p.Ala905Thr)
NM_001165963.4(SCN1A):c.2782C>T (p.Gln928Ter) rs796052985
NM_001165963.4(SCN1A):c.278_279dup (p.Asn94Ter) rs1064796213
NM_001165963.4(SCN1A):c.2791C>T (p.Arg931Cys) rs121918788
NM_001165963.4(SCN1A):c.2792G>A (p.Arg931His) rs794726718
NM_001165963.4(SCN1A):c.2797C>T (p.His933Tyr) rs886041716
NM_001165963.4(SCN1A):c.2800A>G (p.Met934Val) rs1559199628
NM_001165963.4(SCN1A):c.2806G>T (p.Asp936Tyr) rs796052988
NM_001165963.4(SCN1A):c.2817C>A (p.His939Gln) rs121918795
NM_001165963.4(SCN1A):c.2836C>T (p.Arg946Cys) rs121918775
NM_001165963.4(SCN1A):c.2837G>A (p.Arg946His)
NM_001165963.4(SCN1A):c.2846G>A (p.Cys949Tyr) rs1696624989
NM_001165963.4(SCN1A):c.2849G>A (p.Gly950Glu) rs121917972
NM_001165963.4(SCN1A):c.2851del (p.Glu951fs) rs886042004
NM_001165963.4(SCN1A):c.2876G>A (p.Cys959Tyr) rs794726716
NM_001165963.4(SCN1A):c.2877T>A (p.Cys959Ter) rs775214722
NM_001165963.4(SCN1A):c.292del (p.Ala98fs) rs796053050
NM_001165963.4(SCN1A):c.2935G>A (p.Gly979Arg) rs121918754
NM_001165963.4(SCN1A):c.2939A>G (p.Asn980Ser) rs796052989
NM_001165963.4(SCN1A):c.2946+1G>T rs794726772
NM_001165963.4(SCN1A):c.2946+1_2946+2dup rs1064793341
NM_001165963.4(SCN1A):c.2946+2T>G rs797044985
NM_001165963.4(SCN1A):c.2946+5G>A rs1057520486
NM_001165963.4(SCN1A):c.2947-1G>A rs1553540508
NM_001165963.4(SCN1A):c.2947del rs1696406839
NM_001165963.4(SCN1A):c.2975dup (p.Ser993fs) rs886041852
NM_001165963.4(SCN1A):c.2994del (p.Asp998fs) rs796053067
NM_001165963.4(SCN1A):c.2T>C (p.Met1Thr) rs1553561023
NM_001165963.4(SCN1A):c.301C>T (p.Arg101Trp) rs121917965
NM_001165963.4(SCN1A):c.302G>A (p.Arg101Gln) rs121917918
NM_001165963.4(SCN1A):c.305dup (p.Ser103fs) rs796053051
NM_001165963.4(SCN1A):c.314C>T (p.Thr105Ile) rs796053089
NM_001165963.4(SCN1A):c.323dup (p.Tyr109fs) rs886041926
NM_001165963.4(SCN1A):c.337C>A (p.Pro113Thr) rs794726711
NM_001165963.4(SCN1A):c.354G>T (p.Arg118Ser) rs121917959
NM_001165963.4(SCN1A):c.368del (p.Lys123fs) rs796053052
NM_001165963.4(SCN1A):c.384dup (p.Leu129fs) rs886041501
NM_001165963.4(SCN1A):c.427_430del (p.Val143fs) rs1699147493
NM_001165963.4(SCN1A):c.434T>A (p.Met145Lys) rs121918631
NM_001165963.4(SCN1A):c.434T>C (p.Met145Thr) rs121918631
NM_001165963.4(SCN1A):c.476del (p.Tyr159fs) rs796053053
NM_001165963.4(SCN1A):c.514A>T (p.Lys172Ter) rs1553551463
NM_001165963.4(SCN1A):c.549dup (p.Thr184fs) rs1553551425
NM_001165963.4(SCN1A):c.580G>A (p.Asp194Asn) rs121917935
NM_001165963.4(SCN1A):c.600dup (p.Ala201fs) rs886041733
NM_001165963.4(SCN1A):c.602+1G>A
NM_001165963.4(SCN1A):c.602+1G>C rs794726827
NM_001165963.4(SCN1A):c.602+2dup rs796053054
NM_001165963.4(SCN1A):c.603-1G>A rs796052959
NM_001165963.4(SCN1A):c.607_611del (p.Val203fs) rs1553550625
NM_001165963.4(SCN1A):c.637_650delinsCACA (p.Ser213fs) rs1064793678
NM_001165963.4(SCN1A):c.644T>A (p.Leu215Ter) rs886041604
NM_001165963.4(SCN1A):c.662T>C (p.Leu221Pro) rs796052961
NM_001165963.4(SCN1A):c.664C>T (p.Arg222Ter) rs121918624
NM_001165963.4(SCN1A):c.675G>C (p.Lys225Asn) rs794726719
NM_001165963.4(SCN1A):c.677C>G (p.Thr226Arg) rs121917984
NM_001165963.4(SCN1A):c.677C>T (p.Thr226Met) rs121917984
NM_001165963.4(SCN1A):c.680T>C (p.Ile227Thr) rs121917937
NM_001165963.4(SCN1A):c.680T>G (p.Ile227Ser) rs121917937
NM_001165963.4(SCN1A):c.695-2_697delinsCCACAA rs1553549997
NM_001165963.4(SCN1A):c.705del (p.Ile236fs) rs886041442
NM_001165963.4(SCN1A):c.707T>C (p.Ile236Thr) rs886039464
NM_001165963.4(SCN1A):c.739C>G (p.Leu247Val) rs796053092
NM_001165963.4(SCN1A):c.755T>A (p.Ile252Asn) rs121918780
NM_001165963.4(SCN1A):c.765_766del (p.Phe256fs) rs886041961
NM_001165963.4(SCN1A):c.811_815dup (p.Asn272fs) rs1574265144
NM_001165963.4(SCN1A):c.842C>T (p.Pro281Leu) rs796052964
NM_001165963.4(SCN1A):c.893_894del (p.Val298fs) rs1064794252
NM_001165963.4(SCN1A):c.942del (p.Asp313_Trp314insTer) rs796053105
NM_001165963.4(SCN1A):c.965-1G>A rs794726824
NM_001165963.4(SCN1A):c.971ATT[1] (p.Tyr325del) rs1553548194

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