List of variants reported as pathogenic for pseudoachondroplasia by Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000095.3(COMP):c.1045G>C (p.Asp349His)
NM_000095.3(COMP):c.1309G>C (p.Asp437His)	rs2055165476
NM_000095.3(COMP):c.1309G>T (p.Asp437Tyr)	rs2055165476
NM_000095.3(COMP):c.1315G>T (p.Asp439Tyr)	rs1601054002
NM_000095.3(COMP):c.811G>T (p.Asp271Tyr)	rs1131691835

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