List of variants reported as pathogenic for Hypercholesterolemia, familial, 1 by Mendelics

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_000527.5(LDLR):c.1359-5C>G	rs531005522	0.00004
NM_000527.5(LDLR):c.1747C>T (p.His583Tyr)	rs730882109	0.00003
NM_000527.5(LDLR):c.862G>A (p.Glu288Lys)	rs368657165	0.00003
NM_000527.5(LDLR):c.1502C>T (p.Ala501Val)	rs755667663	0.00001
NM_000527.5(LDLR):c.1608G>C (p.Trp536Cys)	rs2077458389	0.00001
NM_000527.5(LDLR):c.313+2T>C	rs793888517	0.00001
NM_000527.5(LDLR):c.106G>T (p.Asp36Tyr)	rs2147210262
NM_000527.5(LDLR):c.1702C>G (p.Leu568Val)	rs746959386
NM_000527.5(LDLR):c.1801G>C (p.Asp601His)
NM_000527.5(LDLR):c.1982C>T (p.Pro661Leu)
NM_000527.5(LDLR):c.2311G>A (p.Ala771Thr)
NM_000527.5(LDLR):c.828C>A (p.Cys276Ter)	rs146651743
NM_000527.5(LDLR):c.932_933del (p.Lys311fs)	rs879254723

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