ClinVar Miner

List of variants in gene CHST3 reported as pathogenic by OMIM

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Gene type:
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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_004273.5(CHST3):c.475T>A (p.Phe159Ile) rs145538723 0.00004
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.422C>T (p.Thr141Met) rs267606735
NM_004273.5(CHST3):c.481C>T (p.Leu161Phe) rs267606733
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.776T>C (p.Leu259Pro) rs121908616
NM_004273.5(CHST3):c.857T>C (p.Leu286Pro) rs121908620
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.988C>T (p.Gln330Ter) rs267606732

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