List of variants reported as uncertain significance for Hypercholesterolemia, familial, 1 by Fundacion Hipercolesterolemia Familiar

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Total variants: 113

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HGVS	dbSNP	gnomAD frequency
NM_000384.3(APOB):c.8148C>T (p.Ile2716=)	rs6413458	0.02288
NM_000384.3(APOB):c.10131G>A (p.Leu3377=)	rs1799812	0.00564
NM_000527.5(LDLR):c.1920C>T (p.Asn640=)	rs5926	0.00319
NM_000527.5(LDLR):c.58G>A (p.Gly20Arg)	rs147509697	0.00053
NM_000384.3(APOB):c.2853G>A (p.Glu951=)	rs151193347	0.00031
NM_000527.5(LDLR):c.507C>T (p.Asn169=)	rs146354103	0.00029
NM_000527.5(LDLR):c.2101G>A (p.Gly701Ser)	rs368838866	0.00012
NM_000384.3(APOB):c.10579C>T (p.Arg3527Trp)	rs144467873	0.00006
NM_000527.5(LDLR):c.2282C>T (p.Thr761Met)	rs138477254	0.00006
NM_000527.5(LDLR):c.2375T>C (p.Ile792Thr)	rs764493597	0.00003
NM_000527.5(LDLR):c.-23A>C	rs763282380	0.00002
NM_000527.5(LDLR):c.1510A>G (p.Lys504Glu)	rs730882103	0.00002
NM_000527.5(LDLR):c.1720C>T (p.Arg574Cys)	rs185098634	0.00002
NM_000384.3(APOB):c.10588G>A (p.Val3530Met)	rs200184366	0.00001
NM_000527.5(LDLR):c.1133A>C (p.Gln378Pro)	rs730882098	0.00001
NM_000527.5(LDLR):c.118A>G (p.Ile40Val)	rs765969972	0.00001
NM_000527.5(LDLR):c.1217G>A (p.Arg406Gln)	rs552422789	0.00001
NM_000527.5(LDLR):c.1661C>T (p.Ser554Leu)	rs879254976	0.00001
NM_000527.5(LDLR):c.1898G>A (p.Arg633His)	rs754536745	0.00001
NM_000527.5(LDLR):c.1951G>A (p.Asp651Asn)	rs730882110	0.00001
NM_000527.5(LDLR):c.1981C>A (p.Pro661Thr)	rs1182317785	0.00001
NM_000527.5(LDLR):c.2448G>C (p.Lys816Asn)	rs1399689294	0.00001
NM_000527.5(LDLR):c.48C>A (p.Leu16=)	rs565675103	0.00001
NM_000527.5(LDLR):c.889A>C (p.Asn297His)	rs879254709	0.00001
FH Bologna 2
FH Vancouver 4
NC_000019.10:g.11089321G>C
NC_000019.10:g.11089394_11089395delinsTTCTGCAAACTCCT	rs879254365
NC_000019.10:g.11089409C>G	rs875989887
NC_000019.10:g.11089413C>G	rs879254374
NM_000384.3(APOB):c.10672C>T (p.Arg3558Cys)
NM_000384.3(APOB):c.12382G>A (p.Val4128Met)
NM_000384.3(APOB):c.12940A>G (p.Ile4314Val)
NM_000527.4(LDLR):c.1061-?_1586+?del
NM_000527.4(LDLR):c.1187-?_1845+?del
NM_000527.4(LDLR):c.1359-?_1586+?del
NM_000527.4(LDLR):c.1587-?_2140+?del
NM_000527.4(LDLR):c.1587-?_2311+?del
NM_000527.4(LDLR):c.1706-?_1845+?del
NM_000527.4(LDLR):c.1706-?_2311+?del
NM_000527.4(LDLR):c.1846-?_1987+?del
NM_000527.4(LDLR):c.191-?_313+?dup
NM_000527.4(LDLR):c.191-?_940+?del
NM_000527.4(LDLR):c.2312-?_2547+?del
NM_000527.4(LDLR):c.2390-?_2547+?del
NM_000527.4(LDLR):c.695-?_817+?del
NM_000527.4(LDLR):c.818-?_940+?del
NM_000527.4(LDLR):c.941-?_1060+?del
NM_000527.4(LDLR):c.941-?_1586+?del
NM_000527.4(LDLR):c.941-?_1586+?dup
NM_000527.4(LDLR):c.941-?_1705+?dup
NM_000527.4(LDLR):c.941-?_1845+?del
NM_000527.4(LDLR):c.941-?_1845+?dup
NM_000527.5(LDLR):c.1019G>A (p.Cys340Tyr)	rs755757866
NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser)
NM_000527.5(LDLR):c.1045C>T (p.Gln349Ter)	rs748300548
NM_000527.5(LDLR):c.1060+10G>A
NM_000527.5(LDLR):c.1066G>C (p.Asp356His)	rs767767730
NM_000527.5(LDLR):c.1066G>T (p.Asp356Tyr)	rs767767730
NM_000527.5(LDLR):c.1103G>A (p.Cys368Tyr)
NM_000527.5(LDLR):c.1156G>T (p.Asp386Tyr)	rs1402951356
NM_000527.5(LDLR):c.1186+5G>A	rs879254821
NM_000527.5(LDLR):c.1199_1207del (p.Tyr400_Phe402del)	rs879254826
NM_000527.5(LDLR):c.131G>T (p.Trp44Leu)	rs267607213
NM_000527.5(LDLR):c.1328G>C (p.Trp443Ser)	rs879254866
NM_000527.5(LDLR):c.1359-27T>G	rs1555805318
NM_000527.5(LDLR):c.1432G>A (p.Gly478Arg)
NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn)
NM_000527.5(LDLR):c.148G>T (p.Ala50Ser)	rs137853960
NM_000527.5(LDLR):c.1585G>C (p.Gly529Arg)
NM_000527.5(LDLR):c.1586+5G>A	rs781362878
NM_000527.5(LDLR):c.1721G>A (p.Arg574His)
NM_000527.5(LDLR):c.1750T>C (p.Ser584Pro)	rs879255010
NM_000527.5(LDLR):c.1765G>T (p.Asp589Tyr)	rs201971888
NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp)
NM_000527.5(LDLR):c.1800G>C (p.Glu600Asp)
NM_000527.5(LDLR):c.185C>T (p.Thr62Met)
NM_000527.5(LDLR):c.1865A>G (p.Asp622Gly)	rs879255060
NM_000527.5(LDLR):c.188G>A (p.Cys63Tyr)	rs879254427
NM_000527.5(LDLR):c.1946C>T (p.Pro649Leu)	rs879255081
NM_000527.5(LDLR):c.2026G>A (p.Gly676Ser)	rs745753810
NM_000527.5(LDLR):c.2086T>C (p.Cys696Arg)	rs1555807435
NM_000527.5(LDLR):c.2096C>T (p.Pro699Leu)
NM_000527.5(LDLR):c.2099A>G (p.Asp700Gly)	rs879255139
NM_000527.5(LDLR):c.2119G>T (p.Asp707Tyr)	rs879255142
NM_000527.5(LDLR):c.2279C>T (p.Thr760Ile)	rs1555808147
NM_000527.5(LDLR):c.2360T>A (p.Val787Glu)	rs879255182
NM_000527.5(LDLR):c.2389+3A>C	rs879255189
NM_000527.5(LDLR):c.2389+4A>G	rs758493597
NM_000527.5(LDLR):c.2389G>A (p.Val797Met)
NM_000527.5(LDLR):c.240C>A (p.Asn80Lys)	rs879254444
NM_000527.5(LDLR):c.241C>T (p.Arg81Cys)
NM_000527.5(LDLR):c.274C>G (p.Gln92Glu)	rs774467219
NM_000527.5(LDLR):c.283T>G (p.Cys95Gly)	rs879254456
NM_000527.5(LDLR):c.284G>A (p.Cys95Tyr)	rs879254457
NM_000527.5(LDLR):c.2T>C (p.Met1Thr)	rs1555800701
NM_000527.5(LDLR):c.313+5G>A
NM_000527.5(LDLR):c.44T>C (p.Leu15Pro)	rs879254390
NM_000527.5(LDLR):c.47T>C (p.Leu16Pro)	rs879254391
NM_000527.5(LDLR):c.706T>A (p.Cys236Ser)	rs879254655
NM_000527.5(LDLR):c.737G>A (p.Gly246Glu)	rs879254661
NM_000527.5(LDLR):c.769C>T (p.Arg257Trp)
NM_000527.5(LDLR):c.800A>C (p.Glu267Ala)	rs879254680
NM_000527.5(LDLR):c.835C>T (p.Pro279Ser)	rs1555803827
NM_000527.5(LDLR):c.866G>A (p.Cys289Tyr)	rs1555803865
NM_000527.5(LDLR):c.890A>C (p.Asn297Thr)	rs1555803887
NM_000527.5(LDLR):c.890A>G (p.Asn297Ser)	rs1555803887
NM_000527.5(LDLR):c.905G>A (p.Cys302Tyr)	rs879254715
NM_000527.5(LDLR):c.919G>T (p.Asp307Tyr)	rs879254719
NM_000527.5(LDLR):c.937T>C (p.Cys313Arg)	rs879254728
NM_000527.5(LDLR):c.941-39C>T
Single allele
c.(?_-187)_(190+1_191-1)del

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