List of variants in gene combination ARF1, LOC126806039 reported as likely pathogenic for periventricular nodular heterotopia 8

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 4

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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

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