ClinVar Miner

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

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Gene type:
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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_004273.5(CHST3):c.*1899G>A rs17297481 0.08826
NM_004273.5(CHST3):c.*3555G>A rs4148951 0.04774
NM_004273.5(CHST3):c.*3039C>T rs74145519 0.04770
NM_004273.5(CHST3):c.*4770G>A rs4148953 0.04304
NM_004273.5(CHST3):c.*1370G>A rs60924680 0.03944
NM_004273.5(CHST3):c.*2026A>G rs115545740 0.03755
NM_004273.5(CHST3):c.*1006T>C rs116018996 0.02989
NM_004273.5(CHST3):c.-274G>T rs146305825 0.02017
NM_004273.5(CHST3):c.*1425C>T rs80269486 0.01869
NM_004273.5(CHST3):c.*1101T>G rs116999241 0.01828
NM_004273.5(CHST3):c.*1426T>C rs76062174 0.01720
NM_004273.5(CHST3):c.*255C>T rs114569872 0.01583
NM_004273.5(CHST3):c.*483G>A rs113283291 0.01271
NM_004273.5(CHST3):c.*3666G>A rs113342172 0.01185
NM_004273.5(CHST3):c.*2391C>T rs116391584 0.00817
NM_004273.5(CHST3):c.*1823G>C rs116289781 0.00816
NM_004273.5(CHST3):c.*2163A>G rs114563668 0.00816
NM_004273.5(CHST3):c.*2826G>A rs114457501 0.00816
NM_004273.5(CHST3):c.*3890C>T rs79559408 0.00815
NM_004273.5(CHST3):c.*4095A>G rs114800040 0.00815
NM_004273.5(CHST3):c.*203A>G rs77359818 0.00814
NM_004273.5(CHST3):c.1428C>T (p.Phe476=) rs75845750 0.00421
NM_004273.5(CHST3):c.*7C>T rs202242499 0.00123
NM_004273.5(CHST3):c.*1447C>A rs76808415
NM_004273.5(CHST3):c.*1978GT[4] rs150678709
NM_004273.5(CHST3):c.*2126A>C rs7072219
NM_004273.5(CHST3):c.*2718G>A rs115489836
NM_004273.5(CHST3):c.*3090T>A rs76750860
NM_004273.5(CHST3):c.*3701AG[1] rs200054447
NM_004273.5(CHST3):c.*3884A>G rs77908871
NM_004273.5(CHST3):c.-270del rs538907004

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