ClinVar Miner

List of variants in gene CHST3 studied for not provided

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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_004273.5(CHST3):c.140+255A>G rs4148940 0.45180
NM_004273.5(CHST3):c.140+33T>G rs11000129 0.38299
NM_004273.5(CHST3):c.-107-281T>C rs4747235 0.38293
NM_004273.5(CHST3):c.1070G>A (p.Arg357Gln) rs3740129 0.36709
NM_004273.5(CHST3):c.1173C>A (p.Ile391=) rs115579748 0.00763
NM_004273.5(CHST3):c.561G>C (p.Val187=) rs147804585 0.00480
NM_004273.5(CHST3):c.1428C>T (p.Phe476=) rs75845750 0.00421
NM_004273.5(CHST3):c.1197C>T (p.Asp399=) rs184636110 0.00097
NM_004273.5(CHST3):c.1251G>C (p.Thr417=) rs140411224 0.00072
NM_004273.5(CHST3):c.1003G>A (p.Glu335Lys) rs150466838 0.00038
NM_004273.5(CHST3):c.518C>T (p.Ser173Phe) rs751961615 0.00010
NM_004273.5(CHST3):c.475T>A (p.Phe159Ile) rs145538723 0.00004
NM_004273.5(CHST3):c.7A>G (p.Lys3Glu) rs199515173 0.00003
NM_004273.5(CHST3):c.1187A>G (p.Gln396Arg) rs905033055 0.00001
NM_004273.5(CHST3):c.202G>A (p.Ala68Thr) rs142556853 0.00001
NM_004273.5(CHST3):c.311A>G (p.Glu104Gly) rs148801316 0.00001
NM_004273.5(CHST3):c.72C>T (p.Tyr24=) rs542040061 0.00001
NM_004273.5(CHST3):c.*66G>T rs55939908
NM_004273.5(CHST3):c.1052C>T (p.Ser351Phe) rs1057520111
NM_004273.5(CHST3):c.1191G>A (p.Val397=) rs886042739
NM_004273.5(CHST3):c.1237G>T (p.Gly413Cys) rs1315027057
NM_004273.5(CHST3):c.1332C>T (p.Cys444=)
NM_004273.5(CHST3):c.167C>A (p.Pro56His) rs749513659
NM_004273.5(CHST3):c.168_186dup (p.Asn63fs) rs1840047074
NM_004273.5(CHST3):c.533dup (p.Ala179fs) rs769540174
NM_004273.5(CHST3):c.661C>T (p.Arg221Cys)
NM_004273.5(CHST3):c.688G>A (p.Glu230Lys) rs774599785
NM_004273.5(CHST3):c.688G>T (p.Glu230Ter) rs774599785
NM_004273.5(CHST3):c.823G>A (p.Val275Met) rs2131775630

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