List of variants reported as pathogenic for malignant migrating partial seizures of infancy by OMIM

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Total variants: 25

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HGVS	dbSNP	gnomAD frequency
NC_000020.10:g.(8094049_8094072)_(8580261_8580284)del
NM_001033044.4(GLUL):c.-13-1G>A
NM_001033044.4(GLUL):c.-13-2A>G	rs2101936731
NM_001033044.4(GLUL):c.1A>C (p.Met1Leu)
NM_001033044.4(GLUL):c.1A>G (p.Met1Val)	rs1131691970
NM_001033044.4(GLUL):c.1A>T (p.Met1Leu)	rs1131691970
NM_001199107.1(TBC1D24):c.969_970delGT	rs398122941
NM_001199107.2(TBC1D24):c.442G>A (p.Glu148Lys)	rs763626059
NM_001199107.2(TBC1D24):c.468C>A (p.Cys156Ter)	rs397514714
NM_001199107.2(TBC1D24):c.686T>C (p.Phe229Ser)	rs397514713
NM_020708.5(SLC12A5):c.1208T>C (p.Leu403Pro)	rs863225304
NM_020708.5(SLC12A5):c.1583G>A (p.Gly528Asp)	rs863225305
NM_020708.5(SLC12A5):c.863T>A (p.Leu288His)	rs863225306
NM_020822.3(KCNT1):c.1283G>A (p.Arg428Gln)
NM_020822.3(KCNT1):c.1421G>A (p.Arg474His)
NM_020822.3(KCNT1):c.2280C>G (p.Ile760Met)	rs370521183
NM_020822.3(KCNT1):c.2794T>A (p.Phe932Ile)	rs886044717
NM_020822.3(KCNT1):c.2800G>A (p.Ala934Thr)	rs397515403
NM_020822.3(KCNT1):c.862G>A (p.Gly288Ser)	rs587777264
NM_139318.5(KCNH5):c.1388T>C (p.Ile463Thr)
NM_139318.5(KCNH5):c.1402A>C (p.Thr468Pro)
NM_139318.5(KCNH5):c.1412T>C (p.Phe471Ser)
NM_139318.5(KCNH5):c.2020-4A>G
NM_139318.5(KCNH5):c.980G>A (p.Arg327His)	rs587777164
NM_139318.5(KCNH5):c.998G>A (p.Arg333His)	rs1383017734

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