ClinVar Miner

List of variants in gene PTRH2 studied for Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset

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: 2

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HGVS	dbSNP	gnomAD frequency
NM_016077.5(PTRH2):c.254A>C (p.Gln85Pro)	rs730882234
NM_016077.5(PTRH2):c.68T>C (p.Val23Ala)	rs2033474535

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