ClinVar Miner

Variants in gene F11 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 per condition Variants with at least 2 submissions on the same condition 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 conflict
552 66 0 44 16 0 17 72

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
pathogenic 0 32 6 0 0
likely pathogenic 31 0 13 0 0
uncertain significance 6 14 0 15 2
likely benign 0 0 15 0 12
benign 0 0 2 12 0

All variants with conflicting interpretations #

Total variants: 72
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000128.4(F11):c.1717-48A>G rs5966 0.06916
NM_000128.4(F11):c.-54G>A rs4253814 0.01170
NM_000128.4(F11):c.1016G>T (p.Cys339Phe) rs5967 0.00586
NM_000128.4(F11):c.731A>G (p.Gln244Arg) rs5969 0.00564
NM_000128.4(F11):c.*1A>G rs143899287 0.00378
NM_000128.4(F11):c.1304+12G>A rs116667976 0.00295
NM_000128.4(F11):c.453C>T (p.Tyr151=) rs34807019 0.00248
NM_000128.4(F11):c.1305-9G>T rs4253426 0.00153
NM_000128.4(F11):c.663C>T (p.Pro221=) rs142846329 0.00120
NM_000128.4(F11):c.1020C>T (p.Asn340=) rs149052026 0.00100
NM_000128.4(F11):c.797G>A (p.Ser266Asn) rs145168351 0.00081
NM_000128.4(F11):c.809A>T (p.Lys270Ile) rs121965070 0.00055
NM_000128.4(F11):c.1028+9T>C rs376630194 0.00020
NM_000128.4(F11):c.1767G>T (p.Leu589=) rs142054643 0.00019
NM_000128.4(F11):c.1431C>T (p.Ser477=) rs149568223 0.00016
NM_000128.4(F11):c.596-6G>A rs369721182 0.00015
NM_000128.4(F11):c.1613C>T (p.Pro538Leu) rs139695003 0.00010
NM_000128.4(F11):c.1059C>T (p.Asn353=) rs766026346 0.00009
NM_000128.4(F11):c.486-10T>A rs370991682 0.00009
NM_000128.4(F11):c.1200G>A (p.Pro400=) rs150377265 0.00007
NM_000128.4(F11):c.1288G>A (p.Ala430Thr) rs753909969 0.00006
NM_000128.4(F11):c.943G>A (p.Glu315Lys) rs281875257 0.00006
NM_000128.4(F11):c.438C>A (p.Cys146Ter) rs121965066 0.00005
NM_000128.4(F11):c.1778C>T (p.Thr593Met) rs145906668 0.00004
NM_000128.4(F11):c.400C>T (p.Gln134Ter) rs756908183 0.00004
NM_000128.4(F11):c.422C>T (p.Thr141Met) rs200593979 0.00004
NM_000128.4(F11):c.56-6T>C rs374122923 0.00004
NM_000128.4(F11):c.723C>G (p.Phe241Leu) rs281875265 0.00004
NM_000128.4(F11):c.1107C>A (p.Tyr369Ter) rs773905328 0.00003
NM_000128.4(F11):c.1489C>T (p.Arg497Ter) rs375422404 0.00003
NM_000128.4(F11):c.1683C>T (p.Ala561=) rs770473069 0.00003
NM_000128.4(F11):c.1853T>G (p.Ile618Ser) rs281875276 0.00002
NM_000128.4(F11):c.325G>A (p.Ala109Thr) rs768474112 0.00002
NM_000128.4(F11):c.682C>T (p.Arg228Ter) rs752907087 0.00002
NM_000128.4(F11):c.696T>C (p.His232=) rs746382259 0.00002
NM_000128.4(F11):c.976C>T (p.Arg326Cys) rs28934608 0.00002
NM_000128.4(F11):c.1103G>C (p.Gly368Ala) rs748926718 0.00001
NM_000128.4(F11):c.1186C>T (p.Arg396Cys) rs771896253 0.00001
NM_000128.4(F11):c.1207G>A (p.Val403Met) rs281875266 0.00001
NM_000128.4(F11):c.1247G>A (p.Cys416Tyr) rs779802284 0.00001
NM_000128.4(F11):c.1253G>T (p.Gly418Val) rs121965071 0.00001
NM_000128.4(F11):c.1432G>A (p.Gly478Arg) rs542967227 0.00001
NM_000128.4(F11):c.1546G>A (p.Val516Met) rs200622588 0.00001
NM_000128.4(F11):c.1556G>A (p.Trp519Ter) rs201007090 0.00001
NM_000128.4(F11):c.166T>C (p.Cys56Arg) rs121965069 0.00001
NM_000128.4(F11):c.1789G>A (p.Glu597Lys) rs281875251 0.00001
NM_000128.4(F11):c.302A>G (p.Lys101Arg) rs281875272 0.00001
NM_000128.4(F11):c.365G>A (p.Gly122Asp) rs369650561 0.00001
NM_000128.4(F11):c.595+3A>G rs933333847 0.00001
NM_000128.4(F11):c.599G>A (p.Cys200Tyr) rs757817254 0.00001
NM_000128.4(F11):c.67C>T (p.Gln23Ter) rs768409400 0.00001
NM_000128.4(F11):c.728C>T (p.Ser243Phe) rs1262002209 0.00001
NM_000128.4(F11):c.755+2T>C rs1220869989 0.00001
NM_000128.4(F11):c.1017C>A (p.Cys339Ter) rs745901569
NM_000128.4(F11):c.1028+9T>G rs376630194
NM_000128.4(F11):c.1075del (p.Ile359fs) rs786204429
NM_000128.4(F11):c.1204C>T (p.Gln402Ter) rs1741002305
NM_000128.4(F11):c.1234C>T (p.Gln412Ter) rs538083600
NM_000128.4(F11):c.1288G>T (p.Ala430Ser)
NM_000128.4(F11):c.1313C>A (p.Ser438Ter) rs786204724
NM_000128.4(F11):c.1481-1G>T rs1057516506
NM_000128.4(F11):c.1481-34G>T rs2289253
NM_000128.4(F11):c.1560G>T (p.Gly520=) rs794727084
NM_000128.4(F11):c.1576+51C>A rs2289254
NM_000128.4(F11):c.1782C>A (p.Ser594Arg) rs28934609
NM_000128.4(F11):c.218+4A>G rs767240420
NM_000128.4(F11):c.449C>T (p.Thr150Met) rs1340928778
NM_000128.4(F11):c.595+11A>G
NM_000128.4(F11):c.644_649del (p.Ile215_Asp216del) rs1459304265
NM_000128.4(F11):c.908del (p.Gly303fs) rs786204722
NM_000128.4(F11):c.977G>A (p.Arg326His) rs1554082932
Single allele

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