List of variants in gene SERPINI1 reported as likely benign for adolescent-onset epilepsy syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 105

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HGVS	dbSNP	gnomAD frequency
NM_001122752.2(SERPINI1):c.208A>G (p.Lys70Glu)	rs11547811	0.00078
NM_001122752.2(SERPINI1):c.106C>A (p.Arg36Ser)	rs61735306	0.00073
NM_001122752.2(SERPINI1):c.340G>A (p.Val114Met)	rs61735308	0.00051
NM_001122752.2(SERPINI1):c.1183A>G (p.Met395Val)	rs144637103	0.00043
NM_001122752.2(SERPINI1):c.217C>T (p.Arg73Cys)	rs369596299	0.00031
NM_001122752.2(SERPINI1):c.990G>T (p.Glu330Asp)	rs372246975	0.00014
NM_001122752.2(SERPINI1):c.1125A>G (p.Pro375=)	rs753147816	0.00013
NM_001122752.2(SERPINI1):c.1116C>T (p.Val372=)	rs142605327	0.00009
NM_001122752.2(SERPINI1):c.18C>A (p.Leu6=)	rs752294814	0.00009
NM_001122752.2(SERPINI1):c.482-6A>C	rs773900198	0.00006
NM_001122752.2(SERPINI1):c.482-7del	rs780104028	0.00006
NM_001122752.2(SERPINI1):c.1066+10G>T	rs773079957	0.00005
NM_001122752.2(SERPINI1):c.414T>C (p.His138=)	rs758630825	0.00005
NM_001122752.2(SERPINI1):c.250+14G>C	rs769937767	0.00003
NM_001122752.2(SERPINI1):c.404C>T (p.Ala135Val)	rs746127233	0.00003
NM_001122752.2(SERPINI1):c.192C>T (p.Ala64=)	rs889665899	0.00002
NM_001122752.2(SERPINI1):c.281C>T (p.Ser94Leu)	rs781486255	0.00002
NM_001122752.2(SERPINI1):c.980-7T>G	rs1459038029	0.00002
NM_001122752.2(SERPINI1):c.1008A>G (p.Ala336=)	rs1330766416	0.00001
NM_001122752.2(SERPINI1):c.147T>C (p.Ser49=)	rs1450628576	0.00001
NM_001122752.2(SERPINI1):c.198A>G (p.Gly66=)	rs1288169432	0.00001
NM_001122752.2(SERPINI1):c.251-18T>C	rs565445764	0.00001
NM_001122752.2(SERPINI1):c.306C>T (p.Ser102=)	rs1727464431	0.00001
NM_001122752.2(SERPINI1):c.342G>A (p.Val114=)	rs373426986	0.00001
NM_001122752.2(SERPINI1):c.438C>T (p.Ala146=)	rs769806907	0.00001
NM_001122752.2(SERPINI1):c.473A>G (p.Asn158Ser)	rs767144751	0.00001
NM_001122752.2(SERPINI1):c.48T>A (p.Ala16=)	rs138644986	0.00001
NM_001122752.2(SERPINI1):c.582T>C (p.Phe194=)	rs370446701	0.00001
NM_001122752.2(SERPINI1):c.677-20G>A	rs372974126	0.00001
NM_001122752.2(SERPINI1):c.684T>C (p.Phe228=)	rs557897218	0.00001
NM_001122752.2(SERPINI1):c.717C>T (p.Tyr239=)	rs775700678	0.00001
NM_001122752.2(SERPINI1):c.738T>C (p.Tyr246=)	rs758312709	0.00001
NM_001122752.2(SERPINI1):c.747T>C (p.Asp249=)	rs751092222	0.00001
NM_001122752.2(SERPINI1):c.817G>A (p.Ala273Thr)	rs778331359	0.00001
NM_001122752.2(SERPINI1):c.881+13T>G	rs372395802	0.00001
NM_001122752.2(SERPINI1):c.90A>C (p.Ser30=)	rs1423056952	0.00001
NM_001122752.2(SERPINI1):c.1020C>A (p.Ser340=)
NM_001122752.2(SERPINI1):c.1026A>G (p.Leu342=)	rs2108575349
NM_001122752.2(SERPINI1):c.1035T>C (p.Asn345=)	rs1044875919
NM_001122752.2(SERPINI1):c.1062C>A (p.Val354=)
NM_001122752.2(SERPINI1):c.1066+13A>G
NM_001122752.2(SERPINI1):c.1066+19T>C
NM_001122752.2(SERPINI1):c.1067-11C>T
NM_001122752.2(SERPINI1):c.1067-14T>C
NM_001122752.2(SERPINI1):c.1067-18T>G
NM_001122752.2(SERPINI1):c.1067-20A>G
NM_001122752.2(SERPINI1):c.1067-4G>A	rs1414777080
NM_001122752.2(SERPINI1):c.1067-6C>A
NM_001122752.2(SERPINI1):c.1067-6C>T	rs759360650
NM_001122752.2(SERPINI1):c.1141A>C (p.Arg381=)
NM_001122752.2(SERPINI1):c.1157-18A>T
NM_001122752.2(SERPINI1):c.1157-4A>G	rs2108576458
NM_001122752.2(SERPINI1):c.1167A>G (p.Leu389=)
NM_001122752.2(SERPINI1):c.1176A>C (p.Gly392=)
NM_001122752.2(SERPINI1):c.1176A>T (p.Gly392=)	rs775874977
NM_001122752.2(SERPINI1):c.1221C>T (p.Phe407=)	rs149238028
NM_001122752.2(SERPINI1):c.132A>G (p.Glu44=)
NM_001122752.2(SERPINI1):c.189G>A (p.Gly63=)
NM_001122752.2(SERPINI1):c.219C>T (p.Arg73=)
NM_001122752.2(SERPINI1):c.250+11T>C
NM_001122752.2(SERPINI1):c.250+9G>A	rs1218012905
NM_001122752.2(SERPINI1):c.251-7C>T	rs751958524
NM_001122752.2(SERPINI1):c.268T>C (p.Leu90=)
NM_001122752.2(SERPINI1):c.28C>T (p.Leu10=)
NM_001122752.2(SERPINI1):c.297T>C (p.Ala99=)	rs61761891
NM_001122752.2(SERPINI1):c.303G>A (p.Glu101=)
NM_001122752.2(SERPINI1):c.312T>C (p.Tyr104=)
NM_001122752.2(SERPINI1):c.360C>T (p.Val120=)
NM_001122752.2(SERPINI1):c.372T>C (p.Phe124=)	rs2108557153
NM_001122752.2(SERPINI1):c.402A>G (p.Ala134=)	rs2108557185
NM_001122752.2(SERPINI1):c.441G>T (p.Val147=)	rs1577419314
NM_001122752.2(SERPINI1):c.453C>A (p.Ile151=)
NM_001122752.2(SERPINI1):c.481+13G>A
NM_001122752.2(SERPINI1):c.481+17C>T
NM_001122752.2(SERPINI1):c.481+8A>G
NM_001122752.2(SERPINI1):c.496T>C (p.Leu166=)	rs1727566141
NM_001122752.2(SERPINI1):c.54G>A (p.Gly18=)
NM_001122752.2(SERPINI1):c.552C>A (p.Val184=)	rs1577420587
NM_001122752.2(SERPINI1):c.573G>A (p.Lys191=)	rs1553774750
NM_001122752.2(SERPINI1):c.576G>C (p.Ser192=)
NM_001122752.2(SERPINI1):c.585G>A (p.Arg195=)	rs976025763
NM_001122752.2(SERPINI1):c.60T>C (p.Thr20=)
NM_001122752.2(SERPINI1):c.654T>C (p.Tyr218=)
NM_001122752.2(SERPINI1):c.663A>C (p.Gly221=)
NM_001122752.2(SERPINI1):c.676+10T>C
NM_001122752.2(SERPINI1):c.676+8A>C
NM_001122752.2(SERPINI1):c.676+8del
NM_001122752.2(SERPINI1):c.676+9T>C
NM_001122752.2(SERPINI1):c.681A>G (p.Glu227=)	rs1560010596
NM_001122752.2(SERPINI1):c.690T>C (p.Asp230=)
NM_001122752.2(SERPINI1):c.726A>G (p.Leu242=)
NM_001122752.2(SERPINI1):c.777A>G (p.Arg259=)
NM_001122752.2(SERPINI1):c.846T>C (p.Ser282=)
NM_001122752.2(SERPINI1):c.84C>T (p.Asp28=)	rs2108556255
NM_001122752.2(SERPINI1):c.876G>T (p.Leu292=)	rs2108559999
NM_001122752.2(SERPINI1):c.879C>T (p.Pro293=)
NM_001122752.2(SERPINI1):c.881+14G>A
NM_001122752.2(SERPINI1):c.881+15T>G	rs1214620302
NM_001122752.2(SERPINI1):c.957T>C (p.Asp319=)	rs1711682457
NM_001122752.2(SERPINI1):c.972C>A (p.Gly324=)	rs554583291
NM_001122752.2(SERPINI1):c.975C>G (p.Leu325=)	rs2108567299
NM_001122752.2(SERPINI1):c.979+17A>C
NM_001122752.2(SERPINI1):c.979+19T>C
NM_001122752.2(SERPINI1):c.980-9T>C
NM_005025.4(SERPINI1):c.*256dupT	rs547381979

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