List of variants reported as pathogenic for Rhizomelic chondrodysplasia punctata type 3

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_003659.4(AGPS):c.1256G>A (p.Arg419His)	rs121434411
NM_003659.4(AGPS):c.1406T>C (p.Leu469Pro)	rs121434413
NM_003659.4(AGPS):c.1703C>T (p.Thr568Met)	rs387907214
NM_003659.4(AGPS):c.926C>T (p.Thr309Ile)	rs121434412

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