ClinVar Miner

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

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Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_004273.5(CHST3):c.271C>T (p.Gln91Ter) rs756133268 0.00004
NM_004273.5(CHST3):c.475T>A (p.Phe159Ile) rs145538723 0.00004
NM_004273.5(CHST3):c.1312C>T (p.Gln438Ter) rs1416783446 0.00001
NM_004273.5(CHST3):c.362dup (p.Glu122fs) rs1840050989 0.00001
NM_004273.5(CHST3):c.1063G>A (p.Gly355Arg) rs747171013
NM_004273.5(CHST3):c.1086del (p.Arg363fs) rs1589509884
NM_004273.5(CHST3):c.1114G>A (p.Glu372Lys) rs267606734
NM_004273.5(CHST3):c.1150_1166del (p.Glu384fs) rs2131776376
NM_004273.5(CHST3):c.1177del (p.Pro392_Leu393insTer) rs2131776450
NM_004273.5(CHST3):c.141-1G>C rs2131773933
NM_004273.5(CHST3):c.238del (p.Ser79_Leu80insTer) rs2131774158
NM_004273.5(CHST3):c.334G>T (p.Glu112Ter) rs751470049
NM_004273.5(CHST3):c.375_378dup (p.Ala127fs)
NM_004273.5(CHST3):c.422C>T (p.Thr141Met) rs267606735
NM_004273.5(CHST3):c.481C>T (p.Leu161Phe) rs267606733
NM_004273.5(CHST3):c.491C>T (p.Pro164Leu) rs771866012
NM_004273.5(CHST3):c.503T>G (p.Ile168Ser) rs1589509307
NM_004273.5(CHST3):c.512_513del (p.Thr171fs) rs1564532120
NM_004273.5(CHST3):c.533dup (p.Ala179fs) rs769540174
NM_004273.5(CHST3):c.58_77dup (p.Leu26_Phe27insTer)
NM_004273.5(CHST3):c.603C>A (p.Tyr201Ter) rs121908619
NM_004273.5(CHST3):c.664C>T (p.Arg222Trp) rs121908617
NM_004273.5(CHST3):c.688G>T (p.Glu230Ter) rs774599785
NM_004273.5(CHST3):c.763del (p.Leu255fs) rs1564532377
NM_004273.5(CHST3):c.776T>C (p.Leu259Pro) rs121908616
NM_004273.5(CHST3):c.83T>A (p.Leu28Ter)
NM_004273.5(CHST3):c.855del (p.Leu286fs)
NM_004273.5(CHST3):c.857T>C (p.Leu286Pro) rs121908620
NM_004273.5(CHST3):c.904G>C (p.Asp302His) rs1316347883
NM_004273.5(CHST3):c.911G>A (p.Arg304Gln) rs28937593
NM_004273.5(CHST3):c.920T>C (p.Leu307Pro) rs121908618
NM_004273.5(CHST3):c.976dup (p.Asp326fs)
NM_004273.5(CHST3):c.988C>T (p.Gln330Ter) rs267606732

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