ClinVar Miner

List of variants reported as pathogenic for autosomal dominant nocturnal frontal lobe epilepsy by Invitae

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_020822.3(KCNT1):c.2012C>T (p.Thr671Ile) rs1832838063 0.00001
NM_020822.3(KCNT1):c.2782C>T (p.Arg928Cys) rs397515405 0.00001
NM_000744.7(CHRNA4):c.839C>T (p.Ser280Phe) rs121909580
NM_000744.7(CHRNA4):c.851C>T (p.Ser284Leu) rs28931591
NM_000748.3(CHRNB2):c.859G>A (p.Val287Met) rs74315291
NM_000748.3(CHRNB2):c.859G>T (p.Val287Leu)
NM_000748.3(CHRNB2):c.923T>C (p.Val308Ala) rs281865070
NM_020822.3(KCNT1):c.1038C>G (p.Phe346Leu) rs767434859
NM_020822.3(KCNT1):c.1066C>T (p.Arg356Trp) rs752514808
NM_020822.3(KCNT1):c.1136G>A (p.Ser379Asn) rs1481122214
NM_020822.3(KCNT1):c.1193G>A (p.Arg398Gln) rs397515407
NM_020822.3(KCNT1):c.1225C>T (p.Pro409Ser) rs1588344733
NM_020822.3(KCNT1):c.1283G>A (p.Arg428Gln)
NM_020822.3(KCNT1):c.1309C>T (p.Leu437Phe) rs1057518066
NM_020822.3(KCNT1):c.1420C>T (p.Arg474Cys) rs866242631
NM_020822.3(KCNT1):c.1421G>A (p.Arg474His)
NM_020822.3(KCNT1):c.1429G>A (p.Ala477Thr) rs1564367605
NM_020822.3(KCNT1):c.1546A>G (p.Met516Val) rs886041691
NM_020822.3(KCNT1):c.1885A>G (p.Lys629Glu) rs1057522978
NM_020822.3(KCNT1):c.2386T>C (p.Tyr796His) rs397515406
NM_020822.3(KCNT1):c.2687T>A (p.Met896Lys) rs1060503696
NM_020822.3(KCNT1):c.2687T>G (p.Met896Arg) rs1060503696
NM_020822.3(KCNT1):c.2717A>G (p.Gln906Arg) rs1588385233
NM_020822.3(KCNT1):c.2771C>T (p.Pro924Leu)
NM_020822.3(KCNT1):c.2794T>A (p.Phe932Ile) rs886044717
NM_020822.3(KCNT1):c.2797C>G (p.Arg933Gly) rs150395210
NM_020822.3(KCNT1):c.2800G>A (p.Ala934Thr) rs397515403
NM_020822.3(KCNT1):c.2801C>T (p.Ala934Val)
NM_020822.3(KCNT1):c.2849G>A (p.Arg950Gln)
NM_020822.3(KCNT1):c.2849G>T (p.Arg950Leu) rs886043455
NM_020822.3(KCNT1):c.2882G>A (p.Arg961His) rs200694691
NM_020822.3(KCNT1):c.2943+1G>C rs1833833144
NM_020822.3(KCNT1):c.298C>T (p.Arg100Trp) rs1831067002
NM_020822.3(KCNT1):c.785G>A (p.Arg262Gln) rs1554771469
NM_020822.3(KCNT1):c.862G>A (p.Gly288Ser) rs587777264

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