ClinVar Miner

List of variants in gene PCYT1A studied for Lipodystrophy, congenital generalized, type 5

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_001312673.2(PCYT1A):c.835GAG[1] (p.Glu280del)	rs771425372
NM_001312673.2(PCYT1A):c.996del (p.Ser333fs)	rs757164118

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