List of variants reported as likely pathogenic for periventricular nodular heterotopia 8

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001658.4(ARF1):c.143C>T (p.Thr48Ile)	rs1571844539
NM_001658.4(ARF1):c.278A>G (p.Asp93Gly)	rs2124857932
NM_001658.4(ARF1):c.295C>T (p.Arg99Cys)	rs2124857939
NM_001658.4(ARF1):c.296G>A (p.Arg99His)	rs1558087712
NM_001658.4(ARF1):c.55C>T (p.Arg19Cys)	rs2124857065

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