ClinVar Miner

List of variants studied for Global developmental delay; Feeding difficulties; Hypertonia; Microcephaly; Persistent lactic acidosis; Diffuse white matter abnormalities by Dept. of Evolution and Genomic Sciences, University of Manchester

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_014672.4(PRORP):c.1334G>A (p.Arg445Gln)	rs777185638	0.00004
NM_014672.4(PRORP):c.1197dup (p.Ser400fs)	rs764714439

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