ClinVar Miner

List of variants reported as pathogenic by Laboratory of molecular diagnosis of dyslipidemias, Università egli studi di Napoli Federico II

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Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_000527.5(LDLR):c.718G>A (p.Glu240Lys) rs768563000 0.00004
NM_000527.5(LDLR):c.1846-1G>A rs879255051 0.00001
NM_000527.5(LDLR):c.418G>T (p.Glu140Ter) rs748944640 0.00001
NM_000527.4(LDLR):c.(1586+1_1587-1)_(1845+1_1846-1)del
NM_000527.4(LDLR):c.(1845+1_1846-1)_(2140+1_2141-1)del
NM_000527.4(LDLR):c.313+1G>A
NM_000527.4:c.(1705+1_1706-1)_(1845+1_1846-1)del
NM_000527.4:c.(1845+1_1846-1)_(2311+1_2312-1)del
NM_000527.4:c.(2140+1_2141-1)_(2389+1_2390-1)del
NM_000527.4:c.(67+1_68-1)_(1845+1_1846-1)del
NM_000527.5(LDLR):c.1060+10G>A
NM_000527.5(LDLR):c.1061-1G>T rs879254774
NM_000527.5(LDLR):c.1070_1071dup (p.Cys358fs) rs2147241240
NM_000527.5(LDLR):c.1120_1123dup (p.Tyr375fs) rs879254799
NM_000527.5(LDLR):c.1135T>C (p.Cys379Arg)
NM_000527.5(LDLR):c.116_117delinsAA (p.Cys39Ter) rs879254411
NM_000527.5(LDLR):c.1187del
NM_000527.5(LDLR):c.1216C>A (p.Arg406=) rs121908043
NM_000527.5(LDLR):c.1415_1418dup (p.Gln474fs) rs879254892
NM_000527.5(LDLR):c.1478_1479del (p.Ser493fs) rs869025453
NM_000527.5(LDLR):c.1567G>A (p.Val523Met)
NM_000527.5(LDLR):c.1586+1G>A
NM_000527.5(LDLR):c.1646G>A (p.Gly549Asp)
NM_000527.5(LDLR):c.1685G>A (p.Trp562Ter) rs875989925
NM_000527.5(LDLR):c.1694G>T (p.Gly565Val) rs28942082
NM_000527.5(LDLR):c.1943_1944delinsG (p.Ser648fs) rs2147265230
NM_000527.5(LDLR):c.2054C>T (p.Pro685Leu)
NM_000527.5(LDLR):c.2215C>T (p.Gln739Ter) rs370018159
NM_000527.5(LDLR):c.2311+1G>A rs879255175
NM_000527.5(LDLR):c.233del (p.Arg78fs) rs1057516129
NM_000527.5(LDLR):c.2547+2T>G rs2147287476
NM_000527.5(LDLR):c.304C>T (p.Gln102Ter) rs563390335
NM_000527.5(LDLR):c.337G>T (p.Glu113Ter)
NM_000527.5(LDLR):c.369_370del (p.Arg124fs) rs879254496
NM_000527.5(LDLR):c.424_430del (p.Ser142fs) rs879254521
NM_000527.5(LDLR):c.440C>T (p.Thr147Ile) rs879254524
NM_000527.5(LDLR):c.465C>A (p.Cys155Ter) rs766094434
NM_000527.5(LDLR):c.648dup (p.Asp217Ter) rs875989903
NM_000527.5(LDLR):c.666C>A (p.Cys222Ter) rs756613387
NM_000527.5(LDLR):c.680_692del (p.Asp227fs) rs1057519660
NM_000527.5(LDLR):c.681C>G (p.Asp227Glu) rs121908028
NM_000527.5(LDLR):c.694+1G>C rs879254646
NM_000527.5(LDLR):c.97C>T (p.Gln33Ter)

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