ClinVar Miner

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

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_020822.3(KCNT1):c.1067G>A (p.Arg356Gln) rs758152252 0.00002
NM_020822.3(KCNT1):c.73C>T (p.Arg25Trp) rs775807509 0.00001
NM_020822.3(KCNT1):c.784C>T (p.Arg262Trp) rs375711140 0.00001
NM_198904.4(GABRG2):c.631+1254C>T rs886645578 0.00001
NM_000742.4(CHRNA2):c.937C>T (p.Leu313Phe)
NM_000744.7(CHRNA4):c.1113_1114insTATG (p.Ile372fs)
NM_000744.7(CHRNA4):c.851C>T (p.Ser284Leu) rs28931591
NM_000748.3(CHRNB2):c.256-1G>A
NM_000748.3(CHRNB2):c.845T>A (p.Leu282His) rs1696167453
NM_000748.3(CHRNB2):c.859G>T (p.Val287Leu)
NM_020822.3(KCNT1):c.1038C>A (p.Phe346Leu) rs767434859
NM_020822.3(KCNT1):c.1193G>A (p.Arg398Gln) rs397515407
NM_020822.3(KCNT1):c.1309C>A (p.Leu437Ile) rs1057518066
NM_020822.3(KCNT1):c.1505T>C (p.Phe502Ser)
NM_020822.3(KCNT1):c.2386T>C (p.Tyr796His) rs397515406
NM_020822.3(KCNT1):c.2686A>G (p.Met896Val)
NM_020822.3(KCNT1):c.2798G>A (p.Arg933His) rs1023136319
NM_020822.3(KCNT1):c.2800G>T (p.Ala934Ser) rs397515403
NM_020822.3(KCNT1):c.2824C>T (p.Leu942Phe)
NM_020822.3(KCNT1):c.2882G>A (p.Arg961His) rs200694691
NM_020822.3(KCNT1):c.2896G>A (p.Ala966Thr)
NM_020822.3(KCNT1):c.775G>A (p.Ala259Thr) rs1831666357
NM_020822.3(KCNT1):c.808C>A (p.Gln270Lys)
NM_020822.3(KCNT1):c.862G>T (p.Gly288Cys) rs587777264
NM_198904.4(GABRG2):c.269C>T (p.Thr90Met) rs1057520498
NM_198904.4(GABRG2):c.950C>A (p.Thr317Asn) rs1765173859

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