ClinVar Miner

List of variants reported as pathogenic for Hogue-Janssens syndrome 1 by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)	rs863225082
NM_006245.4(PPP2R5D):c.619T>C (p.Trp207Arg)	rs869320691
NM_006245.4(PPP2R5D):c.751G>T (p.Asp251Tyr)	rs1762178916

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