ClinVar Miner

List of variants in gene IQSEC2 reported by OMIM

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NC_000023.11:g.53254331_53296102dup
NM_001111125.3(IQSEC2):c.1049C>T (p.Ala350Val)
NM_001111125.3(IQSEC2):c.1075C>T (p.Arg359Cys) rs267607188
NM_001111125.3(IQSEC2):c.2273G>A (p.Arg758Gln) rs267607189
NM_001111125.3(IQSEC2):c.2366C>T (p.Ala789Val) rs875989799
NM_001111125.3(IQSEC2):c.2402A>C (p.Gln801Pro) rs267607187
NM_001111125.3(IQSEC2):c.2563C>T (p.Arg855Ter) rs587777261
NM_001111125.3(IQSEC2):c.2587C>T (p.Arg863Trp) rs267607186
NM_001243197.1(IQSEC2):c.123-2226_*20117dup

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