ClinVar Miner

List of variants in gene DST reported as likely benign by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

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Gene type:
ClinVar version:
Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_001723.7(DST):c.7765A>G (p.Ile2589Val) rs150191284 0.02534
NM_001723.7(DST):c.3809A>G (p.Lys1270Arg) rs35497571 0.02037
NM_001723.7(DST):c.5780A>G (p.His1927Arg) rs12209266 0.00441
NM_001374736.1(DST):c.12839A>G (p.Lys4280Arg) rs186813964 0.00285
NM_001374736.1(DST):c.2256A>T (p.Ser752=) rs113432929 0.00225
NM_001374736.1(DST):c.22916C>T (p.Ala7639Val) rs201429821 0.00178
NM_001374736.1(DST):c.2350C>G (p.Pro784Ala) rs151271595 0.00152
NM_001374736.1(DST):c.17108+10A>G rs191140581 0.00117
NM_001374736.1(DST):c.258A>G (p.Ala86=) rs201106926 0.00115
NM_001723.7(DST):c.6401C>T (p.Thr2134Met) rs115983672 0.00107
NM_001374736.1(DST):c.22896T>C (p.Thr7632=) rs200781365 0.00091
NM_001374736.1(DST):c.11542-8C>T rs370887046 0.00060
NM_001374736.1(DST):c.22959+3A>G rs375303601 0.00006
NM_001374736.1(DST):c.3126G>A (p.Lys1042=) rs76795414 0.00004
NM_001374736.1(DST):c.21403-23TG[8] rs144810945
NM_001723.7(DST):c.5892C>T (p.Thr1964=) rs146263203

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