ClinVar Miner

List of variants in gene LDLR reported as pathogenic by Iberoamerican FH Network

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Total variants: 39
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HGVS dbSNP
FH Vancouver 6
NM_000527.4(LDLR):c.11G>A (p.Trp4Ter) rs201016593
NM_000527.4(LDLR):c.1285G>A (p.Val429Met) rs28942078
NM_000527.4(LDLR):c.1291G>A (p.Ala431Thr) rs28942079
NM_000527.4(LDLR):c.12G>A (p.Trp4Ter) rs756039188
NM_000527.4(LDLR):c.1342C>T (p.Gln448Ter) rs879254871
NM_000527.4(LDLR):c.1415_1418dup (p.Gln474fs) rs879254892
NM_000527.4(LDLR):c.1690A>C (p.Asn564His) rs397509365
NM_000527.4(LDLR):c.1705+1G>A rs875989926
NM_000527.4(LDLR):c.1778del (p.Gly593fs) rs875989931
NM_000527.4(LDLR):c.2043C>A (p.Cys681Ter) rs121908031
NM_000527.4(LDLR):c.2054C>T (p.Pro685Leu) rs28942084
NM_000527.4(LDLR):c.2061dup (p.Asn688fs) rs137853965
NM_000527.4(LDLR):c.2264_2273del (p.Ala755fs) rs879255168
NM_000527.4(LDLR):c.2271del (p.Leu759fs) rs875989940
NM_000527.4(LDLR):c.2397_2405del (p.Val800_Leu802del) rs875989944
NM_000527.4(LDLR):c.313+1G>A rs112029328
NM_000527.4(LDLR):c.313+1G>C rs112029328
NM_000527.4(LDLR):c.337G>T (p.Glu113Ter) rs769383881
NM_000527.4(LDLR):c.418G>T (p.Glu140Ter) rs748944640
NM_000527.4(LDLR):c.535G>T (p.Glu179Ter) rs879254567
NM_000527.4(LDLR):c.662A>G (p.Asp221Gly) rs373822756
NM_000527.4(LDLR):c.68-?_1586+?del
NM_000527.4(LDLR):c.681C>G (p.Asp227Glu) rs121908028
NM_000527.4(LDLR):c.682G>A (p.Glu228Lys) rs121908029
NM_000527.4(LDLR):c.695-1G>T rs879254652
NM_000527.4(LDLR):c.823_824CT[1] (p.Cys276fs) rs879254691
NM_001195798.2(LDLR):c.1034dup (p.Leu346fs) rs879254762
NM_001195798.2(LDLR):c.1328G>A (p.Trp443Ter) rs879254866
NM_001195798.2(LDLR):c.1461dup (p.Ile488fs) rs1555805409
NM_001195798.2(LDLR):c.1462_1463insC (p.Ile488fs) rs1555805413
NM_001195798.2(LDLR):c.954C>A (p.Cys318Ter) rs1323416354
NM_001195798.2(LDLR):c.980dup (p.His327fs) rs879254748
NM_001195800.2(LDLR):c.314-1832_314-1830del rs121908027
NM_001195800.2(LDLR):c.314-1905_314-1904insA rs879254581
NM_001195800.2(LDLR):c.314-1954_314-1953insT rs879254564
NM_001195800.2(LDLR):c.314-2147dup rs879254481
NM_001195803.2(LDLR):c.1606+203del rs879255122
c.(1186+1_1187-1)_(1586+1_1587-1)del

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