ClinVar Miner

Variants in gene F8 with conflicting interpretations

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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
775 71 0 33 4 0 20 53

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 28 10 2 0
likely pathogenic 28 0 13 0 0
uncertain significance 10 12 0 3 1
likely benign 2 0 3 0 5
benign 0 0 1 5 0

All variants with conflicting interpretations #

Total variants: 53
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000132.4(F8):c.1508G>A (p.Arg503His) rs35383156 0.00563
NM_000132.4(F8):c.2994T>G (p.His998Gln) rs149853218 0.00419
NM_000132.4(F8):c.3621C>T (p.His1207=) rs28370212 0.00371
NM_000132.4(F8):c.2947G>A (p.Val983Ile) rs35295375 0.00205
NM_000132.4(F8):c.102C>T (p.Asp34=) rs1800283 0.00070
NM_000132.4(F8):c.1018G>A (p.Glu340Lys) rs781954986 0.00019
NM_000132.4(F8):c.396A>C (p.Glu132Asp) rs137852388 0.00018
NM_000132.4(F8):c.3169G>A (p.Glu1057Lys) rs28933673 0.00014
NM_000132.4(F8):c.222G>A (p.Thr74=) rs1232517683 0.00012
NM_000132.4(F8):c.6089G>A (p.Ser2030Asn) rs369414658 0.00009
NM_000132.4(F8):c.6724G>A (p.Val2242Met) rs782654096 0.00008
NM_000132.4(F8):c.1094A>G (p.Tyr365Cys) rs375241473 0.00007
NM_000132.4(F8):c.2150G>A (p.Arg717Gln) rs942909873 0.00005
NM_000132.4(F8):c.748A>G (p.Met250Val) rs781943293 0.00005
NM_000132.4(F8):c.5144G>A (p.Arg1715Gln) rs781876217 0.00003
NM_000132.4(F8):c.1748A>G (p.Asn583Ser) rs782657516 0.00002
NM_000132.4(F8):c.2149C>T (p.Arg717Trp) rs137852435 0.00002
NM_000132.4(F8):c.5123G>A (p.Arg1708His) rs111033614 0.00002
NM_000132.4(F8):c.1660A>G (p.Ser554Gly) rs137852419 0.00001
NM_000132.4(F8):c.493C>T (p.Pro165Ser) rs137852393 0.00001
NM_000132.4(F8):c.5302C>T (p.Arg1768Cys) rs1046670041 0.00001
NM_000132.4(F8):c.5954G>A (p.Arg1985Gln) rs1490417405 0.00001
NM_000132.4(F8):c.599A>G (p.Glu200Gly) rs782158761 0.00001
NM_000132.4(F8):c.6304G>A (p.Gly2102Ser) rs200433372 0.00001
NM_000132.4(F8):c.6371A>G (p.Tyr2124Cys) rs137852459 0.00001
NM_000132.4(F8):c.6533G>A (p.Arg2178His) rs137852465 0.00001
NM_000132.4(F8):c.6623A>G (p.Gln2208Arg) rs782198570 0.00001
NM_000132.4(F8):c.6967C>T (p.Arg2323Cys) rs137852473 0.00001
NM_000132.4(F8):c.6977G>A (p.Arg2326Gln) rs137852360 0.00001
NM_000132.4(F8):c.1468A>G (p.Arg490Gly) rs1603435026
NM_000132.4(F8):c.1636C>T (p.Arg546Trp) rs137852416
NM_000132.4(F8):c.1804C>G (p.Arg602Gly) rs137852424
NM_000132.4(F8):c.1910A>G (p.Asn637Ser) rs2073315379
NM_000132.4(F8):c.2009TCT[2] (p.Phe672del) rs1476178386
NM_000132.4(F8):c.2150G>T (p.Arg717Leu) rs942909873
NM_000132.4(F8):c.4379del (p.Asn1460fs) rs387906455
NM_000132.4(F8):c.4379dup (p.Asn1460fs) rs387906455
NM_000132.4(F8):c.5422C>T (p.Leu1808Phe) rs137852445
NM_000132.4(F8):c.5587-93C>T rs1264918703
NM_000132.4(F8):c.5815G>C (p.Ala1939Pro) rs1603432979
NM_000132.4(F8):c.5879G>A (p.Arg1960Gln) rs28937294
NM_000132.4(F8):c.592T>G (p.Cys198Gly) rs137852475
NM_000132.4(F8):c.6400T>C (p.Tyr2134His)
NM_000132.4(F8):c.6533G>T (p.Arg2178Leu) rs137852465
NM_000132.4(F8):c.6547A>G (p.Met2183Val) rs781797728
NM_000132.4(F8):c.6685C>T (p.Leu2229Phe) rs1603431508
NM_000132.4(F8):c.6929C>T (p.Thr2310Ile) rs373079141
NM_000132.4(F8):c.6956dup (p.Leu2320fs) rs1475873048
NM_000132.4(F8):c.766T>A (p.Tyr256Asn) rs1569559955
NM_000132.4(F8):c.797G>A (p.Gly266Glu) rs137852398
NM_000132.4(F8):c.979C>G (p.Leu327Val) rs1603435395
NM_000132.4(F8):c.986G>A (p.Cys329Tyr) rs137852409
Single allele

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