ClinVar Miner

List of variants reported as pathogenic for periventricular nodular heterotopia 8 by OMIM

Included ClinVar conditions (1):

Periventricular nodular heterotopia 8

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001658.4(ARF1):c.103T>C (p.Tyr35His)	rs879036238
NM_001658.4(ARF1):c.296G>A (p.Arg99His)	rs1558087712
NM_001658.4(ARF1):c.379A>G (p.Lys127Glu)	rs1558087795

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