ClinVar Miner

List of variants reported as uncertain significance for Pontocerebellar hypoplasia type 1A by Fulgent Genetics, Fulgent Genetics

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_003384.3(VRK1):c.901A>G (p.Lys301Glu)	rs149661915	0.00031
NM_003384.3(VRK1):c.721C>T (p.Arg241Cys)	rs141703130	0.00001
NM_003384.3(VRK1):c.769G>A (p.Gly257Ser)	rs1064797191

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