ClinVar Miner

List of variants in gene KYNU reported as likely pathogenic by Embryology Laboratory, Victor Chang Cardiac Research Institute

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Gene type:
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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_003937.3(KYNU):c.616G>A (p.Glu206Lys) rs765122670 0.00002
NM_003937.3(KYNU):c.1035T>A (p.Ser345Arg) rs771131526
NM_003937.3(KYNU):c.361_363del (p.Lys121del) rs767060858

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