ClinVar Miner

List of variants studied for Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities by OMIM

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_005826.5(HNRNPR):c.1600dup (p.Ala534fs)	rs35459559
NM_005826.5(HNRNPR):c.1643dup (p.Pro549fs)	rs2523616146
NM_005826.5(HNRNPR):c.1654C>T (p.Gln552Ter)	rs1553153365
NM_005826.5(HNRNPR):c.1754G>A (p.Arg585His)	rs2523611526

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