List of variants reported as likely pathogenic for Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome

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Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_000095.3(COMP):c.1051T>C (p.Cys351Arg)	rs2145902239
NM_000095.3(COMP):c.1201G>C (p.Asp401His)	rs2055169002
NM_000095.3(COMP):c.1210G>A (p.Gly404Arg)	rs2055168912
NM_000095.3(COMP):c.1309G>A (p.Asp437Asn)	rs2055165476
NM_000095.3(COMP):c.1315G>T (p.Asp439Tyr)	rs1601054002
NM_000095.3(COMP):c.1316A>G (p.Asp439Gly)
NM_000095.3(COMP):c.1394G>T (p.Gly465Val)	rs2145900849
NM_000095.3(COMP):c.1416_1421del (p.Asn474_Asp475del)	rs2055164523
NM_000095.3(COMP):c.1417G>C (p.Asp473His)
NM_000095.3(COMP):c.1445A>T (p.Asp482Val)	rs2055164276
NM_000095.3(COMP):c.1521C>G (p.Asp507Glu)	rs2145900494
NM_000095.3(COMP):c.1545C>A (p.Asp515Glu)
NM_000095.3(COMP):c.818A>T (p.Asp273Val)	rs1601057491
NM_000095.3(COMP):c.874T>C (p.Cys292Arg)	rs2055184939
NM_000095.3(COMP):c.891C>A (p.Asn297Lys)	rs2145903243
NM_000095.3(COMP):c.950A>G (p.Asp317Gly)
NM_000095.3(COMP):c.950A>T (p.Asp317Val)	rs1601057057
NM_000095.3(COMP):c.983G>T (p.Cys328Phe)	rs2145902336

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