ClinVar Miner

List of variants in gene LDLR reported by Division of Human Genetics, Children's Hospital of Philadelphia

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_000527.5(LDLR):c.1003G>A (p.Gly335Ser)	rs544453230	0.00004
NM_000527.5(LDLR):c.557del (p.Gly186fs)	rs879254573

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