ClinVar Miner

List of variants in gene KYNU studied for Catel-Manzke syndrome

Included ClinVar conditions (1):

Catel-Manzke syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_003937.3(KYNU):c.1282C>T (p.Arg428Trp)	rs147475752	0.00001
NM_003937.3(KYNU):c.326G>C (p.Trp109Ser)	rs780720490	0.00001
NM_003937.3(KYNU):c.989G>A (p.Arg330Gln)	rs142934146	0.00001

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