List of variants in gene PTRH2 reported as pathogenic by OMIM

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_016077.5(PTRH2):c.127dup (p.Ser43fs)	rs777064652
NM_016077.5(PTRH2):c.254A>C (p.Gln85Pro)	rs730882234
NM_016077.5(PTRH2):c.324G>A (p.Trp108Ter)	rs1268684924

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