ClinVar Miner

Variants in gene GFM1 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
750 53 0 30 14 0 8 47

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 11 2 0 0
likely pathogenic 11 0 7 0 0
uncertain significance 2 7 0 14 1
likely benign 0 0 14 0 19
benign 0 0 1 19 0

All variants with conflicting interpretations #

Total variants: 47
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_024996.7(GFM1):c.-11C>T rs112860155 0.01649
NM_024996.7(GFM1):c.1990G>A (p.Val664Ile) rs62288347 0.01504
NM_024996.7(GFM1):c.1601+9G>C rs77186707 0.01234
NM_024996.7(GFM1):c.127A>G (p.Asn43Asp) rs35942089 0.00900
NM_024996.7(GFM1):c.568A>C (p.Met190Leu) rs75450876 0.00510
NM_024996.7(GFM1):c.1593C>T (p.Ala531=) rs114754676 0.00399
NM_024996.7(GFM1):c.1764+11A>T rs199739357 0.00265
NM_024996.7(GFM1):c.2190C>T (p.Asp730=) rs149049400 0.00196
NM_024996.7(GFM1):c.960A>C (p.Pro320=) rs145970222 0.00196
NM_024996.7(GFM1):c.788A>G (p.Gln263Arg) rs115984741 0.00158
NM_024996.7(GFM1):c.690-5C>G rs201685981 0.00124
NM_024996.7(GFM1):c.667A>G (p.Ile223Val) rs143446452 0.00081
NM_024996.7(GFM1):c.1324-15T>A rs375168014 0.00057
NM_024996.7(GFM1):c.-38C>T rs377352238 0.00037
NM_024996.7(GFM1):c.1032C>T (p.Asn344=) rs373952002 0.00036
NM_024996.7(GFM1):c.2143A>G (p.Met715Val) rs147620098 0.00034
NM_024996.7(GFM1):c.1457C>T (p.Thr486Ile) rs199976922 0.00027
NM_024996.7(GFM1):c.1831C>T (p.Leu611=) rs190393538 0.00026
NM_024996.7(GFM1):c.373G>A (p.Val125Met) rs200923387 0.00023
NM_024996.7(GFM1):c.622G>A (p.Glu208Lys) rs191462023 0.00011
NM_024996.7(GFM1):c.689+908G>A rs751069628 0.00011
NM_024996.7(GFM1):c.2059C>T (p.Leu687=) rs771619705 0.00007
NM_024996.7(GFM1):c.2011C>T (p.Arg671Cys) rs201408725 0.00006
NM_024996.7(GFM1):c.1626A>G (p.Gln542=) rs139042191 0.00002
NM_024996.7(GFM1):c.521A>G (p.Asn174Ser) rs119470018 0.00002
NM_024996.7(GFM1):c.100C>T (p.Arg34Ter) rs766234016 0.00001
NM_024996.7(GFM1):c.1910-1G>A rs1462851267 0.00001
NM_024996.7(GFM1):c.2071-20T>C rs531105833 0.00001
NM_024996.7(GFM1):c.424del (p.Val142fs) rs886058120 0.00001
NM_024996.7(GFM1):c.455A>C (p.Gln152Pro) rs780319278 0.00001
NM_024996.7(GFM1):c.688G>A (p.Gly230Ser) rs774456344 0.00001
NM_024996.7(GFM1):c.700C>T (p.Arg234Ter) rs863224032 0.00001
NM_024996.7(GFM1):c.748C>T (p.Arg250Trp) rs139430866 0.00001
NM_024996.7(GFM1):c.776A>G (p.Asn259Ser) rs375512235 0.00001
NM_024996.7(GFM1):c.1083+3A>G rs187690169
NM_024996.7(GFM1):c.114del (p.Gly39_Val40insTer)
NM_024996.7(GFM1):c.1525G>T (p.Glu509Ter)
NM_024996.7(GFM1):c.1532_1533del (p.Glu511fs) rs768112611
NM_024996.7(GFM1):c.166_169dup (p.Ser57Ter) rs752037355
NM_024996.7(GFM1):c.1909+13C>G rs141146379
NM_024996.7(GFM1):c.1909+13C>T rs141146379
NM_024996.7(GFM1):c.2125-11dup rs747030381
NM_024996.7(GFM1):c.56C>T (p.Ala19Val) rs567086019
NM_024996.7(GFM1):c.573-1G>C rs2108009356
NM_024996.7(GFM1):c.690_693del rs778902849
NM_024996.7(GFM1):c.749G>A (p.Arg250Gln) rs752251570
NM_024996.7(GFM1):c.829dup (p.Ser277fs) rs771865940

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