List of variants in gene LDLRAP1 reported as 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: 4

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HGVS	dbSNP	gnomAD frequency
NM_015627.3(LDLRAP1):c.406C>T (p.Gln136Ter)	rs121908325	0.00001
NM_015627.3(LDLRAP1):c.466del (p.Ala156fs)
NM_015627.3(LDLRAP1):c.603dup (p.Ser202fs)	rs781585299
NM_015627.3(LDLRAP1):c.89-1G>C	rs755104973

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