List of variants in gene PISD reported as pathogenic for Liberfarb syndrome

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

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_001326411.2(PISD):c.830G>A (p.Arg277Gln)	rs147371584	0.00017
NM_001326411.2(PISD):c.1006-12_1006-3del	rs1410592269
NM_001326411.2(PISD):c.697+5G>A	rs1603393478
NM_001326411.2(PISD):c.899G>A (p.Cys300Tyr)	rs2072505076

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