ClinVar Miner

List of variants in gene NECAP1 reported as likely benign for epilepsy

Included ClinVar conditions (438):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 70
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HGVS dbSNP gnomAD frequency
NM_015509.4(NECAP1):c.714G>A (p.Thr238=) rs759118416 0.00014
NM_015509.4(NECAP1):c.196+12G>A rs371530521 0.00012
NM_015509.4(NECAP1):c.196+19C>T rs770618397 0.00011
NM_015509.4(NECAP1):c.780-13T>C rs200758236 0.00011
NM_015509.4(NECAP1):c.252G>A (p.Thr84=) rs149036367 0.00009
NM_015509.4(NECAP1):c.114A>G (p.Leu38=) rs141295769 0.00008
NM_015509.4(NECAP1):c.489C>T (p.Ile163=) rs773465096 0.00006
NM_015509.4(NECAP1):c.301+15A>C rs779900246 0.00005
NM_015509.4(NECAP1):c.417A>G (p.Glu139=) rs778506326 0.00005
NM_015509.4(NECAP1):c.492+7A>G rs1449501710 0.00003
NM_015509.4(NECAP1):c.804G>A (p.Gln268=) rs112884329 0.00003
NM_015509.4(NECAP1):c.180C>T (p.Leu60=) rs374460096 0.00002
NM_015509.4(NECAP1):c.196+11C>T rs375832217 0.00002
NM_015509.4(NECAP1):c.383+10G>C rs1465757811 0.00002
NM_015509.4(NECAP1):c.723A>G (p.Ala241=) rs1311591214 0.00002
NM_015509.4(NECAP1):c.197-12C>T rs753873119 0.00001
NM_015509.4(NECAP1):c.301+14G>A rs758362815 0.00001
NM_015509.4(NECAP1):c.302-13A>G rs776765650 0.00001
NM_015509.4(NECAP1):c.516T>C (p.Gly172=) rs748624358 0.00001
NM_015509.4(NECAP1):c.546G>A (p.Gly182=) rs1327798217 0.00001
NM_015509.4(NECAP1):c.648G>A (p.Pro216=) rs370869772 0.00001
NM_015509.4(NECAP1):c.117C>T (p.Asp39=)
NM_015509.4(NECAP1):c.126T>C (p.Asp42=) rs970227105
NM_015509.4(NECAP1):c.196+12G>C rs371530521
NM_015509.4(NECAP1):c.196+20C>G rs2120476352
NM_015509.4(NECAP1):c.197-16T>C
NM_015509.4(NECAP1):c.197-19T>C
NM_015509.4(NECAP1):c.197-5G>C
NM_015509.4(NECAP1):c.197-8T>C rs757344160
NM_015509.4(NECAP1):c.210T>C (p.Ala70=)
NM_015509.4(NECAP1):c.228A>G (p.Gln76=)
NM_015509.4(NECAP1):c.301+13G>A
NM_015509.4(NECAP1):c.302-11G>A rs765403528
NM_015509.4(NECAP1):c.302-11G>T rs765403528
NM_015509.4(NECAP1):c.302-5C>T
NM_015509.4(NECAP1):c.315C>T (p.Phe105=) rs2120482419
NM_015509.4(NECAP1):c.351C>T (p.Phe117=)
NM_015509.4(NECAP1):c.372G>A (p.Gln124=) rs2120482694
NM_015509.4(NECAP1):c.383+11dup rs2120482806
NM_015509.4(NECAP1):c.383+13T>A
NM_015509.4(NECAP1):c.383+13del
NM_015509.4(NECAP1):c.383+15T>C
NM_015509.4(NECAP1):c.384-12G>A
NM_015509.4(NECAP1):c.384-15G>A
NM_015509.4(NECAP1):c.393G>A (p.Lys131=)
NM_015509.4(NECAP1):c.420T>G (p.Ser140=)
NM_015509.4(NECAP1):c.492+15T>C rs2120485872
NM_015509.4(NECAP1):c.492+18A>T rs2120485883
NM_015509.4(NECAP1):c.493-6T>C
NM_015509.4(NECAP1):c.531G>A (p.Arg177=)
NM_015509.4(NECAP1):c.555C>T (p.Ser185=)
NM_015509.4(NECAP1):c.570G>A (p.Pro190=) rs148192941
NM_015509.4(NECAP1):c.570G>T (p.Pro190=) rs148192941
NM_015509.4(NECAP1):c.573A>G (p.Pro191=)
NM_015509.4(NECAP1):c.579C>A (p.Gly193=)
NM_015509.4(NECAP1):c.594C>T (p.Pro198=) rs1947563520
NM_015509.4(NECAP1):c.648G>T (p.Pro216=) rs370869772
NM_015509.4(NECAP1):c.676+10G>A
NM_015509.4(NECAP1):c.676+15T>C
NM_015509.4(NECAP1):c.676+16C>G
NM_015509.4(NECAP1):c.676+18A>G rs1947564278
NM_015509.4(NECAP1):c.676+9A>G
NM_015509.4(NECAP1):c.677-12C>T
NM_015509.4(NECAP1):c.681C>A (p.Ile227=)
NM_015509.4(NECAP1):c.709G>C (p.Val237Leu) rs752918460
NM_015509.4(NECAP1):c.779+19C>T
NM_015509.4(NECAP1):c.780-12_780-10del
NM_015509.4(NECAP1):c.780-7C>G
NM_015509.4(NECAP1):c.810C>T (p.Ser270=)
NM_015509.4(NECAP1):c.96-15C>T

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