ClinVar Miner

List of variants reported as uncertain significance for Pulmonary arterial hypertension; Bilateral cryptorchidism; Rib fusion; Horseshoe kidney; Macrocephaly; Abnormality of neuronal migration; Enlarged cisterna magna; Hypoplasia of penis

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Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_001015877.2(PHF6):c.956G>C (p.Arg319Pro)	rs1556019449

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