ClinVar Miner

List of variants studied for benign familial infantile epilepsy by Baylor Genetics

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_145239.3(PRRT2):c.880-34G>A rs1239450803 0.00001
NM_001040142.2(SCN2A):c.2638G>A (p.Ala880Thr) rs1574641522
NM_001040142.2(SCN2A):c.3849+4A>G rs1700958754
NM_001040142.2(SCN2A):c.4946T>C (p.Leu1649Pro) rs1702008208
NM_001330260.2(SCN8A):c.1676A>G (p.His559Arg)
NM_001330260.2(SCN8A):c.2300C>T (p.Thr767Ile) rs797045013
NM_001330260.2(SCN8A):c.2935_2936delinsAA (p.Ser979Asn)
NM_001330260.2(SCN8A):c.2985C>A (p.Asn995Lys) rs1942879102
NM_001330260.2(SCN8A):c.4082C>G (p.Ser1361Cys)
NM_001330260.2(SCN8A):c.5307C>A (p.Phe1769Leu)
NM_001330260.2(SCN8A):c.548G>C (p.Cys183Ser) rs1941432230
NM_014191.4(SCN8A):c.676A>G (p.Arg226Gly) rs1592380687
NM_014191.4(SCN8A):c.697G>A (p.Val233Ile) rs1592380699

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