List of variants reported as likely pathogenic for Hypercholesterolemia, familial, 1 by 3billion

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000527.5(LDLR):c.2096C>T (p.Pro699Leu)	rs201573863	0.00009
NM_000527.5(LDLR):c.1187-10G>A	rs765696008	0.00002
NM_000527.5(LDLR):c.1195G>A (p.Ala399Thr)	rs730882099	0.00001
NM_000527.5(LDLR):c.1951G>A (p.Asp651Asn)	rs730882110	0.00001
NM_000527.5(LDLR):c.1865A>C (p.Asp622Ala)	rs879255060
NM_000527.5(LDLR):c.590G>C (p.Cys197Ser)
NM_000527.5(LDLR):c.858C>A (p.Ser286Arg)	rs140241383

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