ClinVar Miner

List of variants in gene SCN1A reported as not provided for Dravet syndrome

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 73
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HGVS dbSNP
NM_006920.6(SCN1A):c.1028G>A (p.Gly343Asp) rs121918753
NM_006920.6(SCN1A):c.1066A>G (p.Arg356Gly) rs121917920
NM_006920.6(SCN1A):c.1072C>A (p.Pro358Thr) rs121917923
NM_006920.6(SCN1A):c.1098T>A (p.Asp366Glu) rs121917958
NM_006920.6(SCN1A):c.1149C>G (p.Phe383Leu) rs121917939
NM_006920.6(SCN1A):c.1177C>A (p.Arg393Ser) rs121917929
NM_006920.6(SCN1A):c.1177C>T (p.Arg393Cys) rs121917929
NM_006920.6(SCN1A):c.1178G>A (p.Arg393His) rs121917927
NM_006920.6(SCN1A):c.1207T>C (p.Phe403Leu) rs121917966
NM_006920.6(SCN1A):c.1216G>T (p.Val406Phe) rs121918768
NM_006920.6(SCN1A):c.1237T>A (p.Tyr413Asn) rs121917967
NM_006920.6(SCN1A):c.1276T>A (p.Tyr426Asn) rs121917940
NM_006920.6(SCN1A):c.1625G>A (p.Arg542Gln) rs121918817
NM_006920.6(SCN1A):c.1811G>A (p.Arg604His) rs121918769
NM_006920.6(SCN1A):c.187T>C (p.Phe63Leu) rs121917907
NM_006920.6(SCN1A):c.2315T>C (p.Leu772Pro) rs121917968
NM_006920.6(SCN1A):c.234G>T (p.Glu78Asp) rs121917933
NM_006920.6(SCN1A):c.235G>C (p.Asp79His) rs121917982
NM_006920.6(SCN1A):c.2389A>T (p.Thr797Ser) rs121918758
NM_006920.6(SCN1A):c.2402C>G (p.Thr801Arg) rs121917941
NM_006920.6(SCN1A):c.2503G>A (p.Glu835Lys) rs121917942
NM_006920.6(SCN1A):c.251A>G (p.Tyr84Cys) rs121917964
NM_006920.6(SCN1A):c.2552G>A (p.Arg851Gln) rs121918785
NM_006920.6(SCN1A):c.2591C>A (p.Thr864Lys) rs121918623
NM_006920.6(SCN1A):c.2672T>G (p.Phe891Cys) rs121918787
NM_006920.6(SCN1A):c.269T>C (p.Phe90Ser) rs121918733
NM_006920.6(SCN1A):c.272T>C (p.Ile91Thr) rs121918734
NM_006920.6(SCN1A):c.2758C>T (p.Arg920Cys) rs121918788
NM_006920.6(SCN1A):c.2769G>C (p.Met923Ile) rs121918774
NM_006920.6(SCN1A):c.2782C>T (p.His928Tyr) rs121918736
NM_006920.6(SCN1A):c.2784C>G (p.His928Gln) rs121918795
NM_006920.6(SCN1A):c.2792T>C (p.Leu931Pro) rs121917943
NM_006920.6(SCN1A):c.2798T>C (p.Val933Ala) rs121917969
NM_006920.6(SCN1A):c.2800T>C (p.Phe934Leu) rs121917970
NM_006920.6(SCN1A):c.2803C>A (p.Arg935Ser) rs121918775
NM_006920.6(SCN1A):c.2803C>T (p.Arg935Cys) rs121918775
NM_006920.6(SCN1A):c.2804G>A (p.Arg935His) rs121917971
NM_006920.6(SCN1A):c.2816G>A (p.Gly939Glu) rs121917972
NM_006920.6(SCN1A):c.2821T>G (p.Trp941Gly) rs121918737
NM_006920.6(SCN1A):c.2827G>A (p.Glu943Lys) rs121918786
NM_006920.6(SCN1A):c.2837G>T (p.Trp946Leu) rs121917917
NM_006920.6(SCN1A):c.2842T>C (p.Cys948Arg) rs121918796
NM_006920.6(SCN1A):c.2845A>G (p.Met949Val) rs121918750
NM_006920.6(SCN1A):c.2902G>A (p.Gly968Arg) rs121918754
NM_006920.6(SCN1A):c.2915T>C (p.Val972Ala) rs121918756
NM_006920.6(SCN1A):c.2921A>T (p.Asn974Ile) rs121918747
NM_006920.6(SCN1A):c.2923C>T (p.Leu975Phe) rs121918625
NM_006920.6(SCN1A):c.2999A>T (p.Asn1000Ile) rs121918759
NM_006920.6(SCN1A):c.301C>T (p.Arg101Trp) rs121917965
NM_006920.6(SCN1A):c.302G>A (p.Arg101Gln) rs121917918
NM_006920.6(SCN1A):c.307A>G (p.Ser103Gly) rs121918743
NM_006920.6(SCN1A):c.335C>T (p.Thr112Ile) rs121918745
NM_006920.6(SCN1A):c.354G>C (p.Arg118Ser) rs121917959
NM_006920.6(SCN1A):c.371T>A (p.Ile124Asn) rs121918761
NM_006920.6(SCN1A):c.484A>C (p.Thr162Pro) rs121917934
NM_006920.6(SCN1A):c.512T>A (p.Ile171Lys) rs121918766
NM_006920.6(SCN1A):c.523G>A (p.Ala175Thr) rs121918767
NM_006920.6(SCN1A):c.530G>A (p.Gly177Glu) rs121918770
NM_006920.6(SCN1A):c.568T>C (p.Trp190Arg) rs121918773
NM_006920.6(SCN1A):c.571A>T (p.Asn191Tyr) rs121918762
NM_006920.6(SCN1A):c.580G>A (p.Asp194Asn) rs121917935
NM_006920.6(SCN1A):c.596C>G (p.Thr199Arg) rs121917983
NM_006920.6(SCN1A):c.650C>A (p.Thr217Lys) rs121917936
NM_006920.6(SCN1A):c.677C>T (p.Thr226Met) rs121917984
NM_006920.6(SCN1A):c.680T>G (p.Ile227Ser) rs121917937
NM_006920.6(SCN1A):c.715G>A (p.Ala239Thr) rs121917985
NM_006920.6(SCN1A):c.716C>T (p.Ala239Val) rs121917909
NM_006920.6(SCN1A):c.755T>A (p.Ile252Asn) rs121918780
NM_006920.6(SCN1A):c.777C>A (p.Ser259Arg) rs121918735
NM_006920.6(SCN1A):c.793G>T (p.Gly265Trp) rs121918749
NM_006920.6(SCN1A):c.838T>C (p.Trp280Arg) rs121917938
NM_006920.6(SCN1A):c.890C>T (p.Thr297Ile) rs121918771
NM_006920.6(SCN1A):c.965G>T (p.Arg322Ile) rs121917928

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