ClinVar Miner

List of variants in gene SCN1A studied for Dravet syndrome

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 226
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HGVS dbSNP
NM_001165963.1(SCN1A):c.1007G>A (p.Cys336Tyr) rs794726798
NM_001165963.1(SCN1A):c.1024G>T (p.Ala342Ser) rs794726843
NM_001165963.1(SCN1A):c.1025C>A (p.Ala342Glu) rs794726797
NM_001165963.1(SCN1A):c.1025C>T (p.Ala342Val) rs794726797
NM_001165963.1(SCN1A):c.1028+1G>T rs863225030
NM_001165963.1(SCN1A):c.1033T>C (p.Cys345Arg) rs794726782
NM_001165963.1(SCN1A):c.1046A>G (p.Tyr349Cys) rs794726844
NM_001165963.1(SCN1A):c.1048A>G (p.Met350Val) rs794726768
NM_001165963.1(SCN1A):c.1055_1056delTG (p.Val352Glufs) rs794726767
NM_001165963.1(SCN1A):c.1072C>T (p.Pro358Ser) rs121917923
NM_001165963.1(SCN1A):c.1076A>G (p.Asn359Ser) rs794726713
NM_001165963.1(SCN1A):c.1096_1115del20 (p.Asp366Phefs) rs794726792
NM_001165963.1(SCN1A):c.1118delT (p.Leu373Cysfs) rs794726695
NM_001165963.1(SCN1A):c.1129C>T (p.Arg377Ter) rs794726799
NM_001165963.1(SCN1A):c.1136T>A (p.Met379Lys) rs794726732
NM_001165963.1(SCN1A):c.1146C>A (p.Asp382Glu) rs794726753
NM_001165963.1(SCN1A):c.1170+1G>T rs794726765
NM_001165963.1(SCN1A):c.1182_1183insA (p.Ala395Serfs) rs794726777
NM_001165963.1(SCN1A):c.1183_1184delGC (p.Ala395Trpfs) rs794726776
NM_001165963.1(SCN1A):c.1197_1198delCA (p.Met400Aspfs) rs794726818
NM_001165963.1(SCN1A):c.1199T>A (p.Met400Lys) rs794726725
NM_001165963.1(SCN1A):c.1212A>G (p.Val404=) rs7580482
NM_001165963.1(SCN1A):c.121A>T (p.Lys41Ter) rs764444350
NM_001165963.1(SCN1A):c.1259C>T (p.Ala420Val) rs794726826
NM_001165963.1(SCN1A):c.1264G>A (p.Val422Met) rs886042528
NM_001165963.1(SCN1A):c.1265T>C (p.Val422Ala) rs121917989
NM_001165963.1(SCN1A):c.1301delT (p.Leu434Trpfs) rs794726810
NM_001165963.1(SCN1A):c.1345G>T (p.Glu449Ter) rs794726807
NM_001165963.1(SCN1A):c.1439_1442delCAGA (p.Asp481Alafs) rs794726829
NM_001165963.1(SCN1A):c.1516C>T (p.Gln506Ter) rs794726790
NM_001165963.1(SCN1A):c.1624C>T (p.Arg542Ter) rs138877187
NM_001165963.1(SCN1A):c.1659dupC (p.Gln554Profs) rs794726717
NM_001165963.1(SCN1A):c.1662+1G>T rs794726749
NM_001165963.1(SCN1A):c.1662+3A>G rs794726773
NM_001165963.1(SCN1A):c.1663_2176del
NM_001165963.1(SCN1A):c.1667delT (p.Leu556Cysfs) rs794726704
NM_001165963.1(SCN1A):c.1702C>T (p.Arg568Ter) rs886039430
NM_001165963.1(SCN1A):c.1709G>A (p.Ser570Asn) rs1057518703
NM_001165963.1(SCN1A):c.1738C>T (p.Arg580Ter) rs794726736
NM_001165963.1(SCN1A):c.1739G>A (p.Arg580Gln) rs544692790
NM_001165963.1(SCN1A):c.1804G>T (p.Glu602Ter) rs794726834
NM_001165963.1(SCN1A):c.1834C>T (p.Arg612Ter) rs794726778
NM_001165963.1(SCN1A):c.1837C>T (p.Arg613Ter) rs398123585
NM_001165963.1(SCN1A):c.185delC (p.Pro62Hisfs) rs35595680
NM_001165963.1(SCN1A):c.1970C>T (p.Pro657Leu) rs794726838
NM_001165963.1(SCN1A):c.2044_6030del
NM_001165963.1(SCN1A):c.2071A>T (p.Lys691Ter) rs794726747
NM_001165963.1(SCN1A):c.2100delC (p.Met701Trpfs) rs794726806
NM_001165963.1(SCN1A):c.2134C>T (p.Arg712Ter) rs794726730
NM_001165963.1(SCN1A):c.2176+3T>A rs794726795
NM_001165963.1(SCN1A):c.2213G>A (p.Trp738Ter) rs794726742
NM_001165963.1(SCN1A):c.2213G>T (p.Trp738Leu) rs794726742
NM_001165963.1(SCN1A):c.2261G>T (p.Trp754Leu) rs794726743
NM_001165963.1(SCN1A):c.2292T>C (p.Val764=) rs6432860
NM_001165963.1(SCN1A):c.2299_2302dupGACC (p.Pro768Argfs) rs794726750
NM_001165963.1(SCN1A):c.2303C>T (p.Pro768Leu) rs794726766
NM_001165963.1(SCN1A):c.2318_2319insT (p.Ile774Hisfs) rs794726820
NM_001165963.1(SCN1A):c.2353A>G (p.Met785Val) rs767045134
NM_001165963.1(SCN1A):c.2479T>G (p.Tyr827Asp) rs794726805
NM_001165963.1(SCN1A):c.249C>A (p.Tyr83Ter) rs863225031
NM_001165963.1(SCN1A):c.2523_2524delGC (p.Leu842Terfs) rs794726738
NM_001165963.1(SCN1A):c.2537A>G (p.Glu846Gly) rs794726794
NM_001165963.1(SCN1A):c.2576G>A (p.Arg859His) rs398123588
NM_001165963.1(SCN1A):c.2584C>T (p.Arg862Ter) rs397514459
NM_001165963.1(SCN1A):c.2588T>G (p.Leu863Trp) rs794726712
NM_001165963.1(SCN1A):c.2589+3A>T rs794726775
NM_001165963.1(SCN1A):c.2593C>T (p.Arg865Ter) rs794726697
NM_001165963.1(SCN1A):c.2603delA (p.Lys868Serfs) rs794726787
NM_001165963.1(SCN1A):c.2615C>A (p.Ser872Tyr) rs794726786
NM_001165963.1(SCN1A):c.264+5G>A rs794726762
NM_001165963.1(SCN1A):c.264+5G>C rs794726762
NM_001165963.1(SCN1A):c.2678T>A (p.Leu893Ter) rs794726815
NM_001165963.1(SCN1A):c.2690T>C (p.Leu897Ser) rs794726761
NM_001165963.1(SCN1A):c.2728C>A (p.Gln910Lys) rs794726721
NM_001165963.1(SCN1A):c.2780G>T (p.Cys927Phe) rs794726811
NM_001165963.1(SCN1A):c.2792G>A (p.Arg931His) rs794726718
NM_001165963.1(SCN1A):c.2792G>C (p.Arg931Pro) rs794726718
NM_001165963.1(SCN1A):c.2837G>C (p.Arg946Pro) rs121917971
NM_001165963.1(SCN1A):c.2869_2878delTGGGACTGTA (p.Asp958Argfs) rs794726808
NM_001165963.1(SCN1A):c.2876G>A (p.Cys959Tyr) rs794726716
NM_001165963.1(SCN1A):c.2879T>G (p.Met960Arg) rs794726708
NM_001165963.1(SCN1A):c.289_292delAAGG (p.Lys97Profs) rs794726796
NM_001165963.1(SCN1A):c.2903G>T (p.Cys968Phe) rs794726823
NM_001165963.1(SCN1A):c.2929G>A (p.Val977Met) rs794726828
NM_001165963.1(SCN1A):c.2936G>A (p.Gly979Glu) rs794726842
NM_001165963.1(SCN1A):c.2946+1G>T rs794726772
NM_001165963.1(SCN1A):c.2946+1_2946+2delGT rs794726714
NM_001165963.1(SCN1A):c.2980_2981delTC (p.Ser994Ilefs) rs794726830
NM_001165963.1(SCN1A):c.2985T>G (p.Phe995Leu) rs794726746
NM_001165963.1(SCN1A):c.3017delA (p.Asp1006Valfs) rs794726813
NM_001165963.1(SCN1A):c.3062_3066delAAGGA (p.Lys1021Serfs) rs794726756
NM_001165963.1(SCN1A):c.308G>T (p.Ser103Ile) rs760361423
NM_001165963.1(SCN1A):c.323T>C (p.Leu108Pro) rs794726793
NM_001165963.1(SCN1A):c.337C>A (p.Pro113Thr) rs794726711
NM_001165963.1(SCN1A):c.345T>C (p.Asn115=) rs61741123
NM_001165963.1(SCN1A):c.379C>G (p.His127Asp) rs148442069
NM_001165963.1(SCN1A):c.380A>T (p.His127Leu) rs794726831
NM_001165963.1(SCN1A):c.383+1A>G rs794726803
NM_001165963.1(SCN1A):c.384-1C>G rs794726764
NM_001165963.1(SCN1A):c.384_1662dup
NM_001165963.1(SCN1A):c.384_964del
NM_001165963.1(SCN1A):c.4285_4476del
NM_001165963.1(SCN1A):c.4338_6030del
NM_001165963.1(SCN1A):c.433A>G (p.Met145Val) rs794726849
NM_001165963.1(SCN1A):c.473+1G>C rs794726840
NM_001165963.1(SCN1A):c.530G>T (p.Gly177Val) rs121918770
NM_001165963.1(SCN1A):c.602+1G>T rs794726827
NM_001165963.1(SCN1A):c.602+3A>C rs794726833
NM_001165963.1(SCN1A):c.603-2A>G rs1057519531
NM_001165963.1(SCN1A):c.659_662delTTCT (p.Val220Alafs) rs794726724
NM_001165963.1(SCN1A):c.661C>G (p.Leu221Val) rs886039456
NM_001165963.1(SCN1A):c.675G>C (p.Lys225Asn) rs794726719
NM_001165963.1(SCN1A):c.682T>C (p.Ser228Pro) rs1057519530
NM_001165963.1(SCN1A):c.694+5G>C rs727504142
NM_001165963.1(SCN1A):c.70G>A (p.Ala24Thr) rs794726848
NM_001165963.1(SCN1A):c.728C>A (p.Ser243Tyr) rs794726755
NM_001165963.1(SCN1A):c.747T>G (p.Asp249Glu) rs773407463
NM_001165963.1(SCN1A):c.751delA (p.Met251Terfs) rs794726751
NM_001165963.1(SCN1A):c.769T>C (p.Cys257Arg) rs794726771
NM_001165963.1(SCN1A):c.825_826insGTATA (p.Lys276Valfs) rs794726812
NM_001165963.1(SCN1A):c.826A>C (p.Lys276Gln) rs794726847
NM_001165963.1(SCN1A):c.896_905delATTATAATGG (p.Asn299Ilefs) rs794726788
NM_001165963.1(SCN1A):c.930_931dupTG (p.Glu311Valfs) rs794726846
NM_001165963.1(SCN1A):c.964+14T>G rs794726837
NM_001165963.1(SCN1A):c.965-1G>A rs794726824
NM_001165963.1(SCN1A):c.992dupT (p.Leu331Phefs) rs863225038
NM_001165963.2(SCN1A):c.126delA (p.Asp43Metfs) rs1553560831
NM_001165963.2(SCN1A):c.136G>A (p.Glu46Lys) rs769582667
NM_001165963.2(SCN1A):c.1803C>T (p.Asn601=) rs139403702
NM_001165963.2(SCN1A):c.2728C>T (p.Gln910Ter) rs794726721
NM_001165963.2(SCN1A):c.2947-41C>T rs7601520
NM_001165963.2(SCN1A):c.2947del (p.Val983Serfs) rs794726715
NM_001165963.2(SCN1A):c.493T>C (p.Tyr165His) rs1553551493
NM_001202435.2(SCN1A):c.505T>C (p.Ser169Pro) rs796052957
NM_001202435.2(SCN1A):c.602+1G>A rs794726827
NM_006920.4(SCN1A):c.1028G>A (p.Gly343Asp) rs121918753
NM_006920.4(SCN1A):c.1029-1G>C rs398123579
NM_006920.4(SCN1A):c.1066A>G (p.Arg356Gly) rs121917920
NM_006920.4(SCN1A):c.1072C>A (p.Pro358Thr) rs121917923
NM_006920.4(SCN1A):c.1098T>A (p.Asp366Glu) rs121917958
NM_006920.4(SCN1A):c.1130G>A (p.Arg377Gln) rs121917957
NM_006920.4(SCN1A):c.1149C>G (p.Phe383Leu) rs121917939
NM_006920.4(SCN1A):c.1177C>A (p.Arg393Ser) rs121917929
NM_006920.4(SCN1A):c.1177C>T (p.Arg393Cys) rs121917929
NM_006920.4(SCN1A):c.1178G>A (p.Arg393His) rs121917927
NM_006920.4(SCN1A):c.1207T>C (p.Phe403Leu) rs121917966
NM_006920.4(SCN1A):c.1216G>T (p.Val406Phe) rs121918768
NM_006920.4(SCN1A):c.1276T>A (p.Tyr426Asn) rs121917940
NM_006920.4(SCN1A):c.1766A>T (p.Asp589Val) rs398123584
NM_006920.4(SCN1A):c.1876A>G (p.Ser626Gly) rs121917990
NM_006920.4(SCN1A):c.187T>C (p.Phe63Leu) rs121917907
NM_006920.4(SCN1A):c.2315T>C (p.Leu772Pro) rs121917968
NM_006920.4(SCN1A):c.234G>T (p.Glu78Asp) rs121917933
NM_006920.4(SCN1A):c.235G>C (p.Asp79His) rs121917982
NM_006920.4(SCN1A):c.2389A>T (p.Thr797Ser) rs121918758
NM_006920.4(SCN1A):c.2402C>G (p.Thr801Arg) rs121917941
NM_006920.4(SCN1A):c.2503G>A (p.Glu835Lys) rs121917942
NM_006920.4(SCN1A):c.251A>G (p.Tyr84Cys) rs121917964
NM_006920.4(SCN1A):c.2551C>G (p.Arg851Gly) rs397514459
NM_006920.4(SCN1A):c.2552G>A (p.Arg851Gln) rs121918785
NM_006920.4(SCN1A):c.2591C>A (p.Thr864Lys) rs121918623
NM_006920.4(SCN1A):c.2672T>G (p.Phe891Cys) rs121918787
NM_006920.4(SCN1A):c.269T>C (p.Phe90Ser) rs121918733
NM_006920.4(SCN1A):c.272T>C (p.Ile91Thr) rs121918734
NM_006920.4(SCN1A):c.2758C>T (p.Arg920Cys) rs121918788
NM_006920.4(SCN1A):c.2769G>C (p.Met923Ile) rs121918774
NM_006920.4(SCN1A):c.2782C>T (p.His928Tyr) rs121918736
NM_006920.4(SCN1A):c.2784C>G (p.His928Gln) rs121918795
NM_006920.4(SCN1A):c.2792T>C (p.Leu931Pro) rs121917943
NM_006920.4(SCN1A):c.2798T>C (p.Val933Ala) rs121917969
NM_006920.4(SCN1A):c.2800T>C (p.Phe934Leu) rs121917970
NM_006920.4(SCN1A):c.2803C>A (p.Arg935Ser) rs121918775
NM_006920.4(SCN1A):c.2803C>T (p.Arg935Cys) rs121918775
NM_006920.4(SCN1A):c.2804G>A (p.Arg935His) rs121917971
NM_006920.4(SCN1A):c.2816G>A (p.Gly939Glu) rs121917972
NM_006920.4(SCN1A):c.2821T>G (p.Trp941Gly) rs121918737
NM_006920.4(SCN1A):c.2827G>A (p.Glu943Lys) rs121918786
NM_006920.4(SCN1A):c.2837G>T (p.Trp946Leu) rs121917917
NM_006920.4(SCN1A):c.2842T>C (p.Cys948Arg) rs121918796
NM_006920.4(SCN1A):c.2845A>G (p.Met949Val) rs121918750
NM_006920.4(SCN1A):c.2902G>A (p.Gly968Arg) rs121918754
NM_006920.4(SCN1A):c.2915T>C (p.Val972Ala) rs121918756
NM_006920.4(SCN1A):c.2921A>T (p.Asn974Ile) rs121918747
NM_006920.4(SCN1A):c.2923C>T (p.Leu975Phe) rs121918625
NM_006920.4(SCN1A):c.2999A>T (p.Asn1000Ile) rs121918759
NM_006920.4(SCN1A):c.301C>T (p.Arg101Trp) rs121917965
NM_006920.4(SCN1A):c.302G>A (p.Arg101Gln) rs121917918
NM_006920.4(SCN1A):c.307A>G (p.Ser103Gly) rs121918743
NM_006920.4(SCN1A):c.335C>T (p.Thr112Ile) rs121918745
NM_006920.4(SCN1A):c.354G>C (p.Arg118Ser) rs121917959
NM_006920.4(SCN1A):c.371T>A (p.Ile124Asn) rs121918761
NM_006920.4(SCN1A):c.384_473del (p.Leu129_Glu158del) rs1553552270
NM_006920.4(SCN1A):c.474_602del (p.Thr160_Tyr202del) rs1553551314
NM_006920.4(SCN1A):c.484A>C (p.Thr162Pro) rs121917934
NM_006920.4(SCN1A):c.512T>A (p.Ile171Lys) rs121918766
NM_006920.4(SCN1A):c.523G>A (p.Ala175Thr) rs121918767
NM_006920.4(SCN1A):c.530G>A (p.Gly177Glu) rs121918770
NM_006920.4(SCN1A):c.568T>C (p.Trp190Arg) rs121918773
NM_006920.4(SCN1A):c.571A>T (p.Asn191Tyr) rs121918762
NM_006920.4(SCN1A):c.596C>G (p.Thr199Arg) rs121917983
NM_006920.4(SCN1A):c.650C>A (p.Thr217Lys) rs121917936
NM_006920.4(SCN1A):c.677C>T (p.Thr226Met) rs121917984
NM_006920.4(SCN1A):c.680T>G (p.Ile227Ser) rs121917937
NM_006920.4(SCN1A):c.715G>A (p.Ala239Thr) rs121917985
NM_006920.4(SCN1A):c.716C>T (p.Ala239Val) rs121917909
NM_006920.4(SCN1A):c.755T>A (p.Ile252Asn) rs121918780
NM_006920.4(SCN1A):c.777C>A (p.Ser259Arg) rs121918735
NM_006920.4(SCN1A):c.793G>T (p.Gly265Trp) rs121918749
NM_006920.4(SCN1A):c.830delG (p.Cys277Leufs) rs794727786
NM_006920.4(SCN1A):c.838T>C (p.Trp280Arg) rs121917938
NM_006920.4(SCN1A):c.890C>T (p.Thr297Ile) rs121918771
NM_006920.4(SCN1A):c.965G>T (p.Arg322Ile) rs121917928
NM_006920.5(SCN1A):c.1237T>A (p.Tyr413Asn) rs121917967
NM_006920.5(SCN1A):c.1343T>C (p.Ile448Thr)
NM_006920.5(SCN1A):c.1604G>A (p.Arg535His) rs184524479
NM_006920.5(SCN1A):c.1811G>A (p.Arg604His) rs121918769
NM_006920.5(SCN1A):c.2010+10_2010+13del rs1553544470
NM_006920.5(SCN1A):c.338C>G (p.Pro113Arg) rs1553553462
NM_006920.5(SCN1A):c.580G>A (p.Asp194Asn) rs121917935
NM_006920.5(SCN1A):c.664C>T (p.Arg222Ter) rs121918624
NM_006920.6(SCN1A):c.1625G>A (p.Arg542Gln) rs121918817
SCN1A, 1-BP DEL, 2528G
SCN1A, 1-BP DEL, 3608A
SCN1A, 2-BP DEL, 657AG
SCN1A, 6.5-KB DEL
SCN1A, EX21-26DEL

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