List of variants in gene PSPH reported as pathogenic for PSPH deficiency

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_004577.4(PSPH):c.94G>A (p.Asp32Asn)	rs104894035	0.00048
NM_004577.4(PSPH):c.155T>C (p.Met52Thr)	rs104894036	0.00001
NM_004577.4(PSPH):c.103G>A (p.Ala35Thr)	rs786204793

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