ClinVar Miner

List of variants in gene SERPINI1 studied for adolescent-onset epilepsy syndrome

Included ClinVar conditions (80):
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Gene type:
ClinVar version:
Total variants: 54
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HGVS dbSNP
NM_001122752.1(SERPINI1):c.1175G>A (p.Gly392Glu) rs121909053
NM_005025.4(SERPINI1):c.*172T>A rs886058170
NM_005025.4(SERPINI1):c.*197T>C rs532826558
NM_005025.4(SERPINI1):c.*256dupT rs547381979
NM_005025.4(SERPINI1):c.-283C>T rs886058167
NM_005025.4(SERPINI1):c.-335G>A rs886058166
NM_005025.4(SERPINI1):c.1013A>G (p.His338Arg) rs121909052
NM_005025.4(SERPINI1):c.1039G>T (p.Glu347Ter)
NM_005025.4(SERPINI1):c.106C>A (p.Arg36Ser) rs61735306
NM_005025.4(SERPINI1):c.106C>T (p.Arg36Cys) rs61735306
NM_005025.4(SERPINI1):c.1117G>A (p.Asp373Asn)
NM_005025.4(SERPINI1):c.1174G>A (p.Gly392Arg) rs121909054
NM_005025.4(SERPINI1):c.1183A>G (p.Met395Val) rs144637103
NM_005025.4(SERPINI1):c.1186C>T (p.His396Tyr)
NM_005025.4(SERPINI1):c.1221C>A (p.Phe407Leu) rs149238028
NM_005025.4(SERPINI1):c.145T>C (p.Ser49Pro) rs121909051
NM_005025.4(SERPINI1):c.161C>T (p.Ala54Val) rs769948709
NM_005025.4(SERPINI1):c.166G>T (p.Ala56Ser) rs1050971384
NM_005025.4(SERPINI1):c.208A>G (p.Lys70Glu) rs11547811
NM_005025.4(SERPINI1):c.217C>T (p.Arg73Cys) rs369596299
NM_005025.4(SERPINI1):c.218G>A (p.Arg73His) rs139808176
NM_005025.4(SERPINI1):c.21C>G (p.Phe7Leu) rs33917740
NM_005025.4(SERPINI1):c.248A>T (p.Asn83Ile) rs150681002
NM_005025.4(SERPINI1):c.281C>T (p.Ser94Leu) rs781486255
NM_005025.4(SERPINI1):c.286A>G (p.Met96Val) rs372528371
NM_005025.4(SERPINI1):c.289G>A (p.Val97Ile) rs61750375
NM_005025.4(SERPINI1):c.297T>G (p.Ala99=) rs61761891
NM_005025.4(SERPINI1):c.340G>A (p.Val114Met) rs61735308
NM_005025.4(SERPINI1):c.404C>T (p.Ala135Val) rs746127233
NM_005025.4(SERPINI1):c.40A>G (p.Ser14Gly) rs61735307
NM_005025.4(SERPINI1):c.410A>G (p.Asn137Ser) rs886058168
NM_005025.4(SERPINI1):c.432T>C (p.Asn144=) rs140116256
NM_005025.4(SERPINI1):c.439G>A (p.Val147Met)
NM_005025.4(SERPINI1):c.473A>G (p.Asn158Ser) rs767144751
NM_005025.4(SERPINI1):c.482A>T (p.Asn161Ile) rs1553774731
NM_005025.4(SERPINI1):c.508A>G (p.Arg170Gly)
NM_005025.4(SERPINI1):c.518A>G (p.Asp173Gly) rs61735309
NM_005025.4(SERPINI1):c.51A>G (p.Thr17=) rs34582040
NM_005025.4(SERPINI1):c.526A>G (p.Thr176Ala)
NM_005025.4(SERPINI1):c.573G>A (p.Lys191=) rs1553774750
NM_005025.4(SERPINI1):c.576G>A (p.Ser192=) rs2229697
NM_005025.4(SERPINI1):c.684T>C (p.Phe228=) rs557897218
NM_005025.4(SERPINI1):c.751A>G (p.Ile251Val) rs1553774954
NM_005025.4(SERPINI1):c.760A>C (p.Met254Leu) rs1553774956
NM_005025.4(SERPINI1):c.77T>C (p.Ile26Thr) rs146948408
NM_005025.4(SERPINI1):c.817G>A (p.Ala273Thr) rs778331359
NM_005025.4(SERPINI1):c.838G>A (p.Ala280Thr) rs55872908
NM_005025.4(SERPINI1):c.843C>G (p.Asn281Lys) rs1553774967
NM_005025.4(SERPINI1):c.854A>C (p.Lys285Thr)
NM_005025.4(SERPINI1):c.881+10T>G rs113533056
NM_005025.4(SERPINI1):c.914A>C (p.Asp305Ala) rs756818970
NM_005025.4(SERPINI1):c.959C>G (p.Ala320Gly) rs886058169
NM_005025.4(SERPINI1):c.990G>T (p.Glu330Asp) rs372246975
SERPINI1, SER52ARG

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