ClinVar Miner

List of variants in gene HPS5 reported by Mayo Clinic Laboratories, Mayo Clinic

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_181507.2(HPS5):c.2866T>C (p.Tyr956His)	rs147430035	0.00052
NM_181507.2(HPS5):c.514A>G (p.Ile172Val)	rs528209928	0.00003
NM_181507.2(HPS5):c.3317A>C (p.Glu1106Ala)	rs778777981	0.00001

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