ClinVar Miner

List of variants in gene LOC129998495, PSPH studied for PSPH deficiency

Included ClinVar conditions (1):

Deficiency of phosphoserine phosphatase

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_004577.4(PSPH):c.-339T>C	rs535243315	0.00074
NM_004577.4(PSPH):c.-357C>T	rs745752622	0.00051
NM_004577.4(PSPH):c.-333C>T	rs886062392

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