ClinVar Miner

List of variants in gene KIF23 studied for familial hemolytic anemia

Included ClinVar conditions (77):
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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_001367805.3(KIF23):c.2246C>T (p.Thr749Met) rs535792693 0.00007
NM_001367805.3(KIF23):c.1228C>G (p.Leu410Val)
NM_001367805.3(KIF23):c.1324A>G (p.Arg442Gly)
NM_001367805.3(KIF23):c.1358C>G (p.Ala453Gly)
NM_001367805.3(KIF23):c.1400G>A (p.Arg467Lys)
NM_001367805.3(KIF23):c.1508A>G (p.Asn503Ser)
NM_001367805.3(KIF23):c.1664A>G (p.Gln555Arg)
NM_001367805.3(KIF23):c.1801C>T (p.Arg601Cys)
NM_001367805.3(KIF23):c.2089G>A (p.Val697Ile) rs376569877
NM_001367805.3(KIF23):c.2089G>C (p.Val697Leu)
NM_001367805.3(KIF23):c.211A>G (p.Thr71Ala)
NM_001367805.3(KIF23):c.2222C>T (p.Ser741Leu)
NM_001367805.3(KIF23):c.2237A>C (p.Lys746Thr)
NM_001367805.3(KIF23):c.2242C>T (p.Pro748Ser)
NM_001367805.3(KIF23):c.2334A>T (p.Arg778Ser)
NM_001367805.3(KIF23):c.2446G>A (p.Ala816Thr)
NM_001367805.3(KIF23):c.2452C>T (p.Pro818Ser)
NM_001367805.3(KIF23):c.2479C>T (p.Arg827Cys)
NM_001367805.3(KIF23):c.2482T>A (p.Ser828Thr)
NM_001367805.3(KIF23):c.2501T>C (p.Val834Ala)
NM_001367805.3(KIF23):c.2789C>G (p.Pro930Arg) rs2140422904
NM_001367805.3(KIF23):c.2875del (p.Leu959fs) rs2140424959
NM_001367805.3(KIF23):c.497A>C (p.Glu166Ala)
NM_001367805.3(KIF23):c.537G>A (p.Met179Ile)
NM_001367805.3(KIF23):c.560G>A (p.Ser187Asn)
NM_001367805.3(KIF23):c.844G>A (p.Val282Ile)
NM_001367805.3(KIF23):c.952G>T (p.Val318Leu)
NM_001367805.3(KIF23):c.999C>A (p.Asp333Glu)

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