ClinVar Miner

List of variants in gene CHST3 reported as likely pathogenic for Spondyloepiphyseal dysplasia with congenital joint dislocations

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_004273.5(CHST3):c.1165G>C (p.Ala389Pro) rs1003539672 0.00001
NM_004273.5(CHST3):c.1291dup (p.Ser431fs) rs1840069879
NM_004273.5(CHST3):c.1332C>G (p.Cys444Trp) rs1216480002
NM_004273.5(CHST3):c.141-1_141inv
NM_004273.5(CHST3):c.424C>T (p.Arg142Cys) rs1378815381
NM_004273.5(CHST3):c.430G>A (p.Gly144Ser) rs1360950889
NM_004273.5(CHST3):c.431G>A (p.Gly144Asp)
NM_004273.5(CHST3):c.500A>G (p.His167Arg) rs2131774841
NM_004273.5(CHST3):c.661C>T (p.Arg221Cys)
NM_004273.5(CHST3):c.688G>A (p.Glu230Lys) rs774599785
NM_004273.5(CHST3):c.768C>G (p.Asn256Lys) rs1416637363

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