ClinVar Miner

List of variants in gene KIAA0586 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001329943.3(KIAA0586):c.4519G>A (p.Ala1507Thr) rs140026883 0.00196
NM_001329943.3(KIAA0586):c.3688T>C (p.Leu1230=) rs143158234 0.00053
NM_001329943.3(KIAA0586):c.3047C>T (p.Thr1016Ile) rs372259984 0.00008
NM_001329943.3(KIAA0586):c.496A>G (p.Thr166Ala) rs773064815 0.00001
NM_001329943.3(KIAA0586):c.1362G>C (p.Gln454His) rs1595174054
NM_001329943.3(KIAA0586):c.4495+3779A>T rs968172462

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