ClinVar Miner

List of variants in gene LDLR reported as likely benign by GeneDx

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Gene type:
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Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_000527.5(LDLR):c.*13A>G rs72658871 0.00255
NM_000527.5(LDLR):c.1323C>T (p.Ile441=) rs5933 0.00134
NM_000527.5(LDLR):c.58G>A (p.Gly20Arg) rs147509697 0.00053
NM_000527.5(LDLR):c.1977C>A (p.Thr659=) rs72658866 0.00032
NM_000527.5(LDLR):c.507C>T (p.Asn169=) rs146354103 0.00029
NM_000527.5(LDLR):c.1875C>T (p.Asn625=) rs137853962 0.00026
NM_000527.5(LDLR):c.1867A>G (p.Ile623Val) rs555292896 0.00013
NM_000527.5(LDLR):c.1988-17C>T rs373531246 0.00007
NM_000527.5(LDLR):c.1846-10G>T rs368243304 0.00006
NM_000527.5(LDLR):c.1402G>A (p.Val468Ile) rs5932 0.00004
NM_000527.5(LDLR):c.2575G>A (p.Val859Met) rs202049029 0.00004
NM_000527.5(LDLR):c.1060+24C>A rs370478935 0.00003
NM_000527.5(LDLR):c.408C>T (p.Asp136=) rs759738744 0.00002
NM_000527.5(LDLR):c.993C>T (p.Asp331=) rs147905921 0.00002
NM_000527.5(LDLR):c.1060+18C>A rs780579614 0.00001
NM_000527.5(LDLR):c.1186+10G>C rs781336025 0.00001
NM_000527.5(LDLR):c.2418C>A (p.Val806=) rs771705902 0.00001
NM_000527.5(LDLR):c.2548-12A>G rs771336748 0.00001
NM_000527.5(LDLR):c.1186+11G>A rs879254822
NM_000527.5(LDLR):c.148G>T (p.Ala50Ser) rs137853960
NM_000527.5(LDLR):c.1586+16G>T rs114891301
NM_000527.5(LDLR):c.1836C>T (p.Ala612=) rs143872778
NM_000527.5(LDLR):c.190+172C>T
NM_000527.5(LDLR):c.190+58C>T
NM_000527.5(LDLR):c.2231G>A (p.Arg744Gln)
NM_000527.5(LDLR):c.2231_2232delinsAG (p.Arg744Gln) rs1555808091
NM_000527.5(LDLR):c.2289G>T (p.Glu763Asp) rs774698247
NM_000527.5(LDLR):c.2389+235C>T
NM_000527.5(LDLR):c.2389+41C>T
NM_000527.5(LDLR):c.2548-19G>A
NM_000527.5(LDLR):c.330C>G (p.Ser110=) rs768109825
NM_000527.5(LDLR):c.67+140C>T
NM_000527.5(LDLR):c.694+25C>T
NM_000527.5(LDLR):c.829G>A (p.Glu277Lys)
NM_000527.5(LDLR):c.941-39C>T
NM_000527.5(LDLR):c.970G>A (p.Gly324Ser)

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