ClinVar Miner

List of variants reported as benign for Familial hypercholesterolemia by Natera, Inc.

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_000527.5(LDLR):c.2232A>G (p.Arg744=) rs5927 0.74675
NM_000527.5(LDLR):c.1413A>G (p.Arg471=) rs5930 0.65878
NM_015627.3(LDLRAP1):c.654A>G (p.Thr218=) rs28969504 0.62316
NM_015627.3(LDLRAP1):c.604T>C (p.Ser202Pro) rs6687605 0.47789
NM_000527.5(LDLR):c.1959T>C (p.Val653=) rs5925 0.37370
NM_000527.5(LDLR):c.1773C>T (p.Asn591=) rs688 0.33392
NM_000527.5(LDLR):c.1725C>T (p.Leu575=) rs1799898 0.11001
NM_015627.3(LDLRAP1):c.712C>T (p.Arg238Trp) rs41291058 0.03285
NM_000527.5(LDLR):c.1187-25C>T rs72658862 0.00812
NM_000527.5(LDLR):c.1920C>T (p.Asn640=) rs5926 0.00319
NM_000527.5(LDLR):c.1887C>T (p.Phe629=) rs751234870 0.00006
NM_000527.5(LDLR):c.1060+10G>C
NM_000527.5(LDLR):c.1171G>A (p.Ala391Thr)
NM_000527.5(LDLR):c.1358+32C>T
NM_000527.5(LDLR):c.2177C>T (p.Thr726Ile)

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