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 gnomAD frequency
NM_000527.5(LDLR):c.2061dup (p.Asn688fs) rs137853965 0.00001
NM_000527.5(LDLR):c.418G>T (p.Glu140Ter) rs748944640 0.00001
FH Reykjavik
FH Vancouver 6
NM_000527.4(LDLR):c.1690A>C (p.Asn564His)
NM_000527.4(LDLR):c.313+1G>A
NM_000527.4(LDLR):c.68-?_1586+?del
NM_000527.5(LDLR):c.1034dup (p.Leu346fs) rs879254762
NM_000527.5(LDLR):c.11G>A (p.Trp4Ter) rs201016593
NM_000527.5(LDLR):c.1285G>A (p.Val429Met)
NM_000527.5(LDLR):c.1291G>A (p.Ala431Thr)
NM_000527.5(LDLR):c.12G>A (p.Trp4Ter) rs756039188
NM_000527.5(LDLR):c.1328G>A (p.Trp443Ter) rs879254866
NM_000527.5(LDLR):c.1342C>T (p.Gln448Ter)
NM_000527.5(LDLR):c.1415_1418dup (p.Gln474fs) rs879254892
NM_000527.5(LDLR):c.1461dup (p.Ile488fs) rs1555805409
NM_000527.5(LDLR):c.1462_1463insC (p.Ile488fs) rs1555805413
NM_000527.5(LDLR):c.1705+1G>A rs875989926
NM_000527.5(LDLR):c.1778del (p.Gly593fs) rs875989931
NM_000527.5(LDLR):c.2043C>A (p.Cys681Ter)
NM_000527.5(LDLR):c.2054C>T (p.Pro685Leu)
NM_000527.5(LDLR):c.2054del (p.Pro685fs) rs879255122
NM_000527.5(LDLR):c.2264_2273del (p.Ala755fs) rs879255168
NM_000527.5(LDLR):c.2271del (p.Leu759fs)
NM_000527.5(LDLR):c.2397_2405del (p.Val800_Leu802del)
NM_000527.5(LDLR):c.313+1G>C rs112029328
NM_000527.5(LDLR):c.337G>T (p.Glu113Ter)
NM_000527.5(LDLR):c.339dup (p.Phe114fs) rs879254481
NM_000527.5(LDLR):c.532_533insT (p.Asp178fs) rs879254564
NM_000527.5(LDLR):c.535G>T (p.Glu179Ter) rs879254567
NM_000527.5(LDLR):c.581_582insA (p.Ser194fs) rs879254581
NM_000527.5(LDLR):c.651TGG[1] (p.Gly219del) rs121908027
NM_000527.5(LDLR):c.662A>G (p.Asp221Gly)
NM_000527.5(LDLR):c.681C>G (p.Asp227Glu) rs121908028
NM_000527.5(LDLR):c.682G>A (p.Glu228Lys)
NM_000527.5(LDLR):c.695-1G>T rs879254652
NM_000527.5(LDLR):c.825_826del (p.Cys276fs) rs879254691
NM_000527.5(LDLR):c.954C>A (p.Cys318Ter) rs1323416354
NM_000527.5(LDLR):c.980dup (p.His327fs) rs879254748

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