ClinVar Miner

List of variants reported as benign for Dravet syndrome

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 57
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HGVS dbSNP
NM_001365536.1(SCN9A):c.1119T>C (p.Ala373=) rs13414203
NM_001365536.1(SCN9A):c.1155G>T (p.Val385=) rs58465962
NM_001365536.1(SCN9A):c.1266A>G (p.Glu422=) rs13402180
NM_001365536.1(SCN9A):c.1287T>A (p.Arg429=) rs6747673
NM_001365536.1(SCN9A):c.1469G>A (p.Ser490Asn) rs58022607
NM_001365536.1(SCN9A):c.174G>A (p.Gln58=) rs6432901
NM_001365536.1(SCN9A):c.3004G>T (p.Val1002Leu) rs4369876
NM_001365536.1(SCN9A):c.3675C>A (p.Ile1225=) rs77144869
NM_001365536.1(SCN9A):c.3802-8T>C rs76550960
NM_001365536.1(SCN9A):c.4399-10_4399-7del rs77944059
NM_001365536.1(SCN9A):c.444A>G (p.Pro148=) rs9646771
NM_001365536.1(SCN9A):c.4812G>T (p.Val1604=) rs149207258
NM_001365536.1(SCN9A):c.5756A>G (p.Asp1919Gly) rs3750904
NM_002977.3(SCN9A):c.*1013C>T rs16851754
NM_002977.3(SCN9A):c.*1118_*1119insCA rs140616949
NM_002977.3(SCN9A):c.*1184T>G rs11902920
NM_002977.3(SCN9A):c.*129C>T rs16851759
NM_002977.3(SCN9A):c.*1492C>G rs73017542
NM_002977.3(SCN9A):c.*1605del rs148459420
NM_002977.3(SCN9A):c.*1660G>A rs16851753
NM_002977.3(SCN9A):c.*1774G>A rs114843828
NM_002977.3(SCN9A):c.*1796C>T rs16851751
NM_002977.3(SCN9A):c.*2136C>G rs77050817
NM_002977.3(SCN9A):c.*2146G>C rs1062844
NM_002977.3(SCN9A):c.*2154C>G rs17804037
NM_002977.3(SCN9A):c.*2297A>T rs75345520
NM_002977.3(SCN9A):c.*237C>G rs16851755
NM_002977.3(SCN9A):c.*244_*247dup rs143461219
NM_002977.3(SCN9A):c.*2540C>T rs58249489
NM_002977.3(SCN9A):c.*2616_*2626del rs145255931
NM_002977.3(SCN9A):c.*2640G>A rs13396526
NM_002977.3(SCN9A):c.*2854T>C rs73017538
NM_002977.3(SCN9A):c.*416dup rs3834910
NM_002977.3(SCN9A):c.*529_*530del rs140024416
NM_002977.3(SCN9A):c.*771_*772dup rs144515054
NM_002977.3(SCN9A):c.*798dup rs564394161
NM_002977.3(SCN9A):c.-290T>C rs148362057
NM_002977.3(SCN9A):c.-307G>T rs1881440
NM_002977.3(SCN9A):c.1942-12dup rs35888674
NM_002977.3(SCN9A):c.2072-14C>T rs6432893
NM_002977.3(SCN9A):c.2072-15G>A rs4525717
NM_002977.3(SCN9A):c.2841+13del rs200434162
NM_002977.3(SCN9A):c.3769-4A>G rs75230218
NM_002977.3(SCN9A):c.688+13T>C rs74449889
NM_006920.6(SCN1A):c.1212A>G (p.Val404=) rs7580482
NM_006920.6(SCN1A):c.1811G>A (p.Arg604His) rs121918769
NM_006920.6(SCN1A):c.2259T>C (p.Val753=) rs6432860
NM_006920.6(SCN1A):c.2914-41C>T rs7601520
NM_006920.6(SCN1A):c.345T>C (p.Asn115=) rs61741123
NM_006920.6(SCN1A):c.3690T>C (p.Tyr1230=) rs36031496
NM_006920.6(SCN1A):c.4690C>T (p.Arg1564Cys) rs121918807
NM_006920.6(SCN1A):c.5749C>G (p.Arg1917Gly) rs121917956
NM_198903.2(GABRG2):c.*2120_*2121del rs34705786
NM_198903.2(GABRG2):c.*609C>T rs418210
NM_198903.2(GABRG2):c.*661T>A rs424740
NM_198903.2(GABRG2):c.315C>T (p.Asn105=) rs11135176
NM_198903.2(GABRG2):c.588C>T (p.Asn196=) rs211037

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