ClinVar Miner

List of variants studied for Hypercholesterolemia, familial, 1 by Color Diagnostics, LLC DBA Color Health

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Total variants: 87
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HGVS dbSNP gnomAD frequency
NM_174936.4(PCSK9):c.1026A>G (p.Gln342=) rs509504 0.98223
NM_174936.4(PCSK9):c.207+15A>G rs2495482 0.91171
NM_174936.4(PCSK9):c.1380A>G (p.Val460=) rs540796 0.82761
NM_000527.5(LDLR):c.2232A>G (p.Arg744=) rs5927 0.74675
NM_174936.3(PCSK9):c.-861G>A rs2479409 0.65880
NM_000527.5(LDLR):c.1413A>G (p.Arg471=) rs5930 0.65878
NM_174936.4(PCSK9):c.799+3A>G rs2495477 0.49156
NM_174936.4(PCSK9):c.658-7C>T rs2483205 0.45035
NM_000384.3(APOB):c.7545C>T (p.Thr2515=) rs693 0.38722
NM_000527.5(LDLR):c.1959T>C (p.Val653=) rs5925 0.37370
NM_000527.5(LDLR):c.1773C>T (p.Asn591=) rs688 0.33392
NM_000527.5(LDLR):c.1725C>T (p.Leu575=) rs1799898 0.11001
NM_000527.5(LDLR):c.81C>T (p.Cys27=) rs2228671 0.08613
NM_174936.4(PCSK9):c.524-11G>A rs11800231 0.08151
NM_000527.5(LDLR):c.1617C>T (p.Pro539=) rs5929 0.07003
NM_174936.4(PCSK9):c.657+9G>A rs11800243 0.03991
NM_174936.4(PCSK9):c.705C>T (p.Ser235=) rs7552471 0.02435
NM_000384.3(APOB):c.8148C>T (p.Ile2716=) rs6413458 0.02288
NM_000384.3(APOB):c.10701G>A (p.Thr3567=) rs12713558 0.02176
NM_000527.5(LDLR):c.90C>T (p.Asn30=) rs72658855 0.00965
NM_174936.4(PCSK9):c.1326C>T (p.Ala442=) rs28362262 0.00856
NM_174936.4(PCSK9):c.141C>T (p.Ser47=) rs28385701 0.00815
NM_000384.3(APOB):c.10131G>A (p.Leu3377=) rs1799812 0.00564
NM_174936.4(PCSK9):c.720C>T (p.Gly240=) rs41297883 0.00500
NM_000384.3(APOB):c.3383G>A (p.Arg1128His) rs12713843 0.00356
NM_000527.5(LDLR):c.1920C>T (p.Asn640=) rs5926 0.00319
NM_000527.5(LDLR):c.67+18C>A rs17242759 0.00319
NM_174936.4(PCSK9):c.753C>T (p.Arg251=) rs28385710 0.00219
NM_000384.3(APOB):c.7615G>A (p.Val2539Ile) rs148170480 0.00210
NM_000384.3(APOB):c.905-16A>C rs12720810 0.00172
NM_000527.5(LDLR):c.1194C>T (p.Ile398=) rs13306498 0.00138
NM_000384.3(APOB):c.7152T>C (p.Val2384=) rs72653090 0.00041
NM_174936.4(PCSK9):c.336G>A (p.Leu112=) rs79805678 0.00033
NM_000527.5(LDLR):c.1056C>T (p.Cys352=) rs13306515 0.00026
NM_000527.5(LDLR):c.564C>T (p.Tyr188=) rs121908034 0.00016
NM_174936.4(PCSK9):c.277C>T (p.Arg93Cys) rs151193009 0.00014
NM_000527.5(LDLR):c.1867A>G (p.Ile623Val) rs555292896 0.00013
NM_000384.3(APOB):c.288G>T (p.Gln96His) rs186544754 0.00012
NM_000384.3(APOB):c.8877G>A (p.Leu2959=) rs765899256 0.00012
NM_000527.5(LDLR):c.1586+15C>T rs371716068 0.00009
NM_000527.5(LDLR):c.2358C>T (p.Ser786=) rs183255090 0.00008
NM_174936.4(PCSK9):c.1173C>T (p.His391=) rs149097297 0.00007
NM_000384.3(APOB):c.13095C>T (p.Asn4365=) rs13306203 0.00005
NM_174936.4(PCSK9):c.1539C>T (p.Asn513=) rs781492750 0.00004
NM_174936.4(PCSK9):c.208-16C>A rs927208593 0.00003
NM_174936.4(PCSK9):c.10G>A (p.Val4Ile) rs186669805 0.00002
NM_000384.3(APOB):c.7283A>G (p.Lys2428Arg) rs1369533953 0.00001
NM_000527.5(LDLR):c.2140+11C>T rs780701050 0.00001
NM_000527.5(LDLR):c.2140+12G>A rs1409963984 0.00001
NM_174936.4(PCSK9):c.2023G>A (p.Val675Ile) rs760981278 0.00001
NM_000384.3(APOB):c.10294C>G (p.Gln3432Glu)
NM_000384.3(APOB):c.11401T>A (p.Ser3801Thr)
NM_000384.3(APOB):c.11477C>T (p.Thr3826Met)
NM_000384.3(APOB):c.12088-13del rs751121092
NM_000384.3(APOB):c.12809G>C (p.Arg4270Thr)
NM_000384.3(APOB):c.12940A>G (p.Ile4314Val)
NM_000384.3(APOB):c.13013G>A (p.Ser4338Asn)
NM_000384.3(APOB):c.1594C>T (p.Arg532Trp)
NM_000384.3(APOB):c.1853C>T (p.Ala618Val)
NM_000384.3(APOB):c.2222C>A (p.Thr741Asn)
NM_000384.3(APOB):c.293C>T (p.Thr98Ile)
NM_000384.3(APOB):c.3491G>A (p.Arg1164Lys) rs759845943
NM_000384.3(APOB):c.3634C>A (p.Leu1212Met)
NM_000384.3(APOB):c.433C>T (p.Pro145Ser)
NM_000384.3(APOB):c.5741A>G (p.Asn1914Ser)
NM_000384.3(APOB):c.9835A>G (p.Ser3279Gly)
NM_000527.5(LDLR):c.1060+10G>C
NM_000527.5(LDLR):c.1060+7=
NM_000527.5(LDLR):c.1171G>A (p.Ala391Thr)
NM_000527.5(LDLR):c.150T>C (p.Ala50=) rs1456739064
NM_000527.5(LDLR):c.2140+5G>A
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile) rs137853964
NM_000527.5(LDLR):c.2548-19G>A
NM_174936.4(PCSK9):c.1420G>A (p.Val474Ile)
NM_174936.4(PCSK9):c.1503+20GT[14] rs35115360
NM_174936.4(PCSK9):c.1503+20GT[15] rs35115360
NM_174936.4(PCSK9):c.1503+20GT[16] rs35115360
NM_174936.4(PCSK9):c.1503+20GT[17] rs35115360
NM_174936.4(PCSK9):c.1503+20GT[18] rs35115360
NM_174936.4(PCSK9):c.1503+20GT[19] rs35115360
NM_174936.4(PCSK9):c.1503+20GT[20] rs35115360
NM_174936.4(PCSK9):c.1503+20GT[24] rs35115360
NM_174936.4(PCSK9):c.158C>T (p.Ala53Val)
NM_174936.4(PCSK9):c.2009G>A (p.Gly670Glu)
NM_174936.4(PCSK9):c.45GCT[6] (p.Leu23del)
NM_174936.4(PCSK9):c.45GCT[8] (p.Leu23dup) rs35574083
NM_174936.4(PCSK9):c.45GCT[9] (p.Leu22_Leu23dup) rs35574083

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