ClinVar Miner

List of variants reported as uncertain significance for benign familial infantile epilepsy by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (18):
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Minimum conflict level:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_145239.3(PRRT2):c.635A>G (p.Asn212Ser) rs779020826 0.00026
NM_001040142.2(SCN2A):c.1712G>A (p.Arg571His) rs138138150 0.00013
NM_145239.3(PRRT2):c.434G>A (p.Arg145Gln) rs200877676 0.00003
NM_001040142.2(SCN2A):c.1901T>C (p.Val634Ala) rs756119996 0.00001
NM_001040142.2(SCN2A):c.3049G>C (p.Val1017Leu) rs769267899 0.00001
NM_001040142.2(SCN2A):c.3190G>T (p.Asp1064Tyr) rs769395683 0.00001
NM_001330260.2(SCN8A):c.1396G>A (p.Glu466Lys) rs557559740 0.00001
NM_001330260.2(SCN8A):c.3136G>A (p.Ala1046Thr) rs775833241 0.00001
NM_001330260.2(SCN8A):c.3164G>A (p.Arg1055Gln) rs756127631 0.00001
NM_001330260.2(SCN8A):c.457A>C (p.Asn153His) rs796053232 0.00001
NM_001330260.2(SCN8A):c.5479A>G (p.Ile1827Val) rs764115258 0.00001
NM_001040142.2(SCN2A):c.106A>G (p.Arg36Gly) rs796053167
NM_001040142.2(SCN2A):c.1385C>T (p.Ala462Val) rs769825203
NM_001040142.2(SCN2A):c.1861C>T (p.Arg621Cys) rs796053205
NM_001040142.2(SCN2A):c.2696G>A (p.Gly899Asp) rs796053121
NM_001040142.2(SCN2A):c.3413C>G (p.Thr1138Ser) rs2105355734
NM_001040142.2(SCN2A):c.3457G>A (p.Glu1153Lys) rs200138205
NM_001040142.2(SCN2A):c.4246C>T (p.Leu1416Phe) rs1559399522
NM_001040142.2(SCN2A):c.5278A>G (p.Ile1760Val) rs1702022330
NM_001330260.2(SCN8A):c.1420C>T (p.Pro474Ser) rs1160066733

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