ClinVar Miner

List of variants in gene CHST3 reported as benign for Spondyloepiphyseal dysplasia congenita

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Gene type:
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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_004273.5(CHST3):c.*2349A>G rs4148948 0.70000
NM_004273.5(CHST3):c.*3932G>T rs1871451 0.66877
NM_004273.5(CHST3):c.*763C>A rs4148941 0.66871
NM_004273.5(CHST3):c.*2422T>C rs4148949 0.65038
NM_004273.5(CHST3):c.*4432T>A rs1871452 0.65004
NM_004273.5(CHST3):c.*1844C>T rs4148946 0.63737
NM_004273.5(CHST3):c.-294C>G rs4148907 0.61843
NM_004273.5(CHST3):c.*1278C>T rs4148943 0.44347
NM_004273.5(CHST3):c.*4533C>T rs730720 0.43618
NM_004273.5(CHST3):c.*4107T>C rs731027 0.43607
NM_004273.5(CHST3):c.*3785G>A rs1871450 0.39651
NM_004273.5(CHST3):c.*4785G>A rs12418 0.39638
NM_004273.5(CHST3):c.*1888T>C rs4148947 0.39562
NM_004273.5(CHST3):c.*3477G>A rs4148950 0.39114
NM_004273.5(CHST3):c.1070G>A (p.Arg357Gln) rs3740129 0.36267
NM_004273.5(CHST3):c.*1361C>T rs4148945 0.34471
NM_004273.5(CHST3):c.*3987G>A rs56218110 0.19306
NM_004273.5(CHST3):c.*3053C>T rs12172746 0.19290
NM_004273.5(CHST3):c.*1314G>A rs4148944 0.16928
NM_004273.5(CHST3):c.*4421G>C rs730722 0.08333

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