List of variants studied for band heterotopia of brain

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_004434.3(EML1):c.1666T>C (p.Ser556Pro)	rs2250718	0.69923
NM_004434.3(EML1):c.276T>C (p.Pro92=)	rs11160553	0.27063
NM_004434.3(EML1):c.2233G>A (p.Val745Ile)	rs753296372	0.00001
NM_004434.3(EML1):c.412C>T (p.Arg138Ter)	rs886037935	0.00001
NM_004434.3(EML1):c.136C>T (p.Gln46Ter)
NM_004434.3(EML1):c.1567C>T (p.Arg523Ter)	rs1555404109
NM_004434.3(EML1):c.1820+1G>C	rs2060059941
NM_004434.3(EML1):c.1897C>T (p.Arg633Ter)	rs2060118585
NM_004434.3(EML1):c.2272G>A (p.Asp758Asn)
NM_004434.3(EML1):c.673T>C (p.Trp225Arg)	rs886037937
NM_004434.3(EML1):c.727A>G (p.Thr243Ala)	rs886037936
NM_004434.3(EML1):c.941A>G (p.Asn314Ser)

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