ClinVar Miner

Variants in gene PCSK9 with conflicting interpretations

Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
205 82 0 47 36 3 24 81

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

pathogenic likely pathogenic uncertain significance likely benign benign association
pathogenic 0 9 16 6 9 3
likely pathogenic 9 0 8 2 2 0
uncertain significance 16 8 0 34 19 1
likely benign 6 2 34 0 39 1
benign 9 2 19 39 0 2
association 3 0 1 1 2 0

All variants with conflicting interpretations #

Total variants: 81
Download table as spreadsheet
HGVS dbSNP
NM_174936.3(PCSK9):c.*75C>T rs28362287
NM_174936.3(PCSK9):c.-245G>T rs28362201
NM_174936.3(PCSK9):c.-64C>T rs45448095
NM_174936.3(PCSK9):c.-861G>A rs2479409
NM_174936.3(PCSK9):c.-8T>C rs886039837
NM_174936.3(PCSK9):c.1026A>G (p.Gln342=) rs509504
NM_174936.3(PCSK9):c.103G>T (p.Asp35Tyr) rs764603059
NM_174936.3(PCSK9):c.10G>A (p.Val4Ile) rs186669805
NM_174936.3(PCSK9):c.1120G>T (p.Asp374Tyr) rs137852912
NM_174936.3(PCSK9):c.1133_1134delGCinsAA (p.Cys378Ter) rs1553137557
NM_174936.3(PCSK9):c.1171C>A (p.His391Asn) rs146471967
NM_174936.3(PCSK9):c.1180G>A (p.Gly394Ser) rs368257906
NM_174936.3(PCSK9):c.1251C>A (p.His417Gln) rs143275858
NM_174936.3(PCSK9):c.1274A>G (p.Asn425Ser) rs28362261
NM_174936.3(PCSK9):c.1326C>T (p.Ala442=) rs28362262
NM_174936.3(PCSK9):c.1327G>A (p.Ala443Thr) rs28362263
NM_174936.3(PCSK9):c.1354+9G>T rs72646516
NM_174936.3(PCSK9):c.137G>T (p.Arg46Leu) rs11591147
NM_174936.3(PCSK9):c.1380A>G (p.Val460=) rs540796
NM_174936.3(PCSK9):c.1394C>T (p.Ser465Leu) rs778849441
NM_174936.3(PCSK9):c.1399C>G (p.Pro467Ala) rs772677312
NM_174936.3(PCSK9):c.1405C>T (p.Arg469Trp) rs141502002
NM_174936.3(PCSK9):c.141C>T (p.Ser47=) rs28385701
NM_174936.3(PCSK9):c.1420G>A (p.Val474Ile) rs562556
NM_174936.3(PCSK9):c.142G>A (p.Glu48Lys) rs1278890129
NM_174936.3(PCSK9):c.1486C>T (p.Arg496Trp) rs374603772
NM_174936.3(PCSK9):c.1487G>A (p.Arg496Gln) rs139669564
NM_174936.3(PCSK9):c.1491C>T (p.Gly497=) rs147599496
NM_174936.3(PCSK9):c.1503+54_1503+71del rs35115360
NM_174936.3(PCSK9):c.1503+58_1503+71delGTGTGTGTGTGTGT rs35115360
NM_174936.3(PCSK9):c.1503+60_1503+71delGTGTGTGTGTGT rs35115360
NM_174936.3(PCSK9):c.1504-5C>G rs763241481
NM_174936.3(PCSK9):c.1504-5_1504-4delCT rs755817854
NM_174936.3(PCSK9):c.1537A>G (p.Asn513Asp) rs1057516136
NM_174936.3(PCSK9):c.158C>T (p.Ala53Val) rs11583680
NM_174936.3(PCSK9):c.1606G>A (p.Val536Ile) rs776367625
NM_174936.3(PCSK9):c.1658A>G (p.His553Arg) rs28362270
NM_174936.3(PCSK9):c.1681+17G>A rs200529774
NM_174936.3(PCSK9):c.169G>A (p.Glu57Lys) rs145886902
NM_174936.3(PCSK9):c.1727C>T (p.Pro576Leu)
NM_174936.3(PCSK9):c.1856A>C (p.Gln619Pro) rs28362277
NM_174936.3(PCSK9):c.1863+6G>A rs568853401
NM_174936.3(PCSK9):c.1864-13C>T rs147470944
NM_174936.3(PCSK9):c.1878C>T (p.Cys626=)
NM_174936.3(PCSK9):c.1979A>C (p.Asp660Ala) rs755522807
NM_174936.3(PCSK9):c.2009G>A (p.Gly670Glu) rs505151
NM_174936.3(PCSK9):c.2022C>T (p.Ala674=) rs886046436
NM_174936.3(PCSK9):c.2023G>A (p.Val675Ile) rs760981278
NM_174936.3(PCSK9):c.2037C>A (p.Cys679Ter) rs28362286
NM_174936.3(PCSK9):c.2038C>T (p.Arg680Trp) rs533555352
NM_174936.3(PCSK9):c.207+15A>G rs2495482
NM_174936.3(PCSK9):c.212C>T (p.Pro71Leu) rs569379713
NM_174936.3(PCSK9):c.277C>T (p.Arg93Cys) rs151193009
NM_174936.3(PCSK9):c.290G>A (p.Arg97His) rs376385276
NM_174936.3(PCSK9):c.323T>G (p.Leu108Arg) rs1057519691
NM_174936.3(PCSK9):c.381T>A (p.Ser127Arg) rs28942111
NM_174936.3(PCSK9):c.385G>A (p.Asp129Asn) rs778738291
NM_174936.3(PCSK9):c.386A>G (p.Asp129Gly) rs1553135971
NM_174936.3(PCSK9):c.399+4A>G rs376653409
NM_174936.3(PCSK9):c.426C>G (p.Tyr142Ter) rs67608943
NM_174936.3(PCSK9):c.524-11G>A rs11800231
NM_174936.3(PCSK9):c.57_65dup (p.Leu23_Gly24insLeuLeuLeu)
NM_174936.3(PCSK9):c.60_65dupGCTGCT (p.Leu23_Gly24insLeuLeu) rs35574083
NM_174936.3(PCSK9):c.627C>T (p.Pro209=) rs375892354
NM_174936.3(PCSK9):c.63_65delGCT (p.Leu23del) rs35574083
NM_174936.3(PCSK9):c.63_65dupGCT (p.Leu23_Gly24insLeu) rs35574083
NM_174936.3(PCSK9):c.644G>A (p.Arg215His) rs794728683
NM_174936.3(PCSK9):c.657+9G>A rs11800243
NM_174936.3(PCSK9):c.658-7C>T rs2483205
NM_174936.3(PCSK9):c.658G>A (p.Ala220Thr) rs768795323
NM_174936.3(PCSK9):c.705C>T (p.Ser235=) rs7552471
NM_174936.3(PCSK9):c.709C>T (p.Arg237Trp) rs148195424
NM_174936.3(PCSK9):c.720C>T (p.Gly240=) rs41297883
NM_174936.3(PCSK9):c.753C>T (p.Arg251=) rs28385710
NM_174936.3(PCSK9):c.757C>T (p.Leu253Phe) rs72646508
NM_174936.3(PCSK9):c.799+3A>G rs2495477
NM_174936.3(PCSK9):c.835C>A (p.Pro279Thr) rs72646509
NM_174936.3(PCSK9):c.85delC (p.Arg29Valfs) rs1553135406
NM_174936.3(PCSK9):c.94G>A (p.Glu32Lys) rs564427867
NM_174936.3(PCSK9):c.993C>T (p.Pro331=) rs376753957
NM_174936.3(PCSK9):c.996+8delC rs768213924

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