List of variants in gene PCSK9 reported as likely pathogenic for Familial hypercholesterolemia

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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: 5

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HGVS	dbSNP	gnomAD frequency
NM_174936.4(PCSK9):c.1399C>G (p.Pro467Ala)	rs772677312	0.00004
NM_174936.4(PCSK9):c.1496G>A (p.Arg499His)	rs143394031
NM_174936.4(PCSK9):c.323T>G (p.Leu108Arg)	rs1057519691
NM_174936.4(PCSK9):c.385G>A (p.Asp129Asn)
NM_174936.4(PCSK9):c.644G>A (p.Arg215His)	rs794728683

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