List of variants in gene NHLRC1 reported as pathogenic for adolescent-onset epilepsy syndrome

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 27

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HGVS	dbSNP	gnomAD frequency
NM_198586.3(NHLRC1):c.205C>G (p.Pro69Ala)	rs28940576	0.00009
NM_198586.3(NHLRC1):c.468del (p.Gly158fs)	rs757954108	0.00006
NM_198586.3(NHLRC1):c.468_469del (p.Gly158fs)	rs587776542	0.00004
NM_198586.3(NHLRC1):c.436G>A (p.Asp146Asn)	rs769301934	0.00003
NM_198586.3(NHLRC1):c.386C>A (p.Pro129His)	rs750465793	0.00001
NM_198586.3(NHLRC1):c.76T>A (p.Cys26Ser)	rs28940575	0.00001
NM_198586.3(NHLRC1):c.1091C>A (p.Ser364Ter)	rs78324544
NM_198586.3(NHLRC1):c.1120G>T (p.Glu374Ter)
NM_198586.3(NHLRC1):c.230del (p.Gly77fs)
NM_198586.3(NHLRC1):c.368G>A (p.Trp123Ter)	rs1783750860
NM_198586.3(NHLRC1):c.37_38insTC (p.His13fs)	rs1217276014
NM_198586.3(NHLRC1):c.462dup (p.Asp155Ter)	rs1157872508
NM_198586.3(NHLRC1):c.519del (p.Asp173fs)
NM_198586.3(NHLRC1):c.558_562del (p.His187fs)
NM_198586.3(NHLRC1):c.560A>C (p.His187Pro)
NM_198586.3(NHLRC1):c.583del (p.Asp195fs)	rs2150703022
NM_198586.3(NHLRC1):c.593T>A (p.Ile198Asn)	rs121917876
NM_198586.3(NHLRC1):c.612del (p.Phe204fs)	rs1171412241
NM_198586.3(NHLRC1):c.670_673del (p.Thr224fs)	rs2150702964
NM_198586.3(NHLRC1):c.742G>T (p.Glu248Ter)	rs750055958
NM_198586.3(NHLRC1):c.742del (p.Glu248fs)
NM_198586.3(NHLRC1):c.793C>T (p.Arg265Ter)	rs121917875
NM_198586.3(NHLRC1):c.799del (p.Val267fs)	rs1362520746
NM_198586.3(NHLRC1):c.799dup (p.Val267fs)	rs1362520746
NM_198586.3(NHLRC1):c.865_880del (p.Gly288_Val289insTer)	rs1193841505
NM_198586.3(NHLRC1):c.923A>C (p.Asp308Ala)	rs137852859
NM_198586.3(NHLRC1):c.992del (p.Gly331fs)	rs587776543

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