ClinVar Miner

Variants in gene SBF1 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
1481 203 0 43 26 0 8 73

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 1 1 0 0
likely pathogenic 1 0 8 1 0
uncertain significance 1 8 0 25 3
likely benign 0 1 25 0 42
benign 0 0 3 42 0

All variants with conflicting interpretations #

Total variants: 73
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002972.4(SBF1):c.5539A>G (p.Thr1847Ala) rs192771726 0.01139
NM_002972.4(SBF1):c.2127+4C>T rs151027707 0.01090
NM_002972.4(SBF1):c.4368+17G>A rs116526390 0.01026
NM_002972.4(SBF1):c.1570A>T (p.Met524Leu) rs149528827 0.00850
NM_002972.4(SBF1):c.3827-4T>C rs114603288 0.00786
NM_002972.4(SBF1):c.56-5C>T rs79658113 0.00784
NM_002972.4(SBF1):c.4267-15C>T rs115969873 0.00701
NM_002972.4(SBF1):c.2712G>C (p.Leu904=) rs114880473 0.00694
NM_002972.4(SBF1):c.1980G>A (p.Pro660=) rs143643893 0.00651
NM_002972.4(SBF1):c.3339C>T (p.Ser1113=) rs149160974 0.00612
NM_002972.4(SBF1):c.4681+14C>T rs116731277 0.00503
NM_002972.4(SBF1):c.2128-17G>A rs371831385 0.00450
NM_002972.4(SBF1):c.1947T>A (p.Pro649=) rs180800708 0.00425
NM_002972.4(SBF1):c.2730G>A (p.Glu910=) rs743039 0.00421
NM_002972.4(SBF1):c.4813-18C>T rs41281541 0.00348
NM_002972.4(SBF1):c.5604T>C (p.Val1868=) rs141053122 0.00332
NM_002972.4(SBF1):c.1058C>T (p.Pro353Leu) rs185916020 0.00271
NM_002972.4(SBF1):c.1668T>C (p.His556=) rs139208738 0.00257
NM_002972.4(SBF1):c.898-18G>A rs369814596 0.00252
NM_002972.4(SBF1):c.4833C>T (p.Asn1611=) rs199573140 0.00247
NM_002972.4(SBF1):c.3904+5C>G rs115032856 0.00233
NM_002972.4(SBF1):c.4927C>A (p.Pro1643Thr) rs202049257 0.00229
NM_002972.4(SBF1):c.2393A>G (p.Asn798Ser) rs199705951 0.00206
NM_002972.4(SBF1):c.5625C>T (p.Asp1875=) rs146489206 0.00205
NM_002972.4(SBF1):c.615C>T (p.Pro205=) rs373623627 0.00194
NM_002972.4(SBF1):c.2079C>T (p.His693=) rs199672732 0.00188
NM_002972.4(SBF1):c.3666G>A (p.Lys1222=) rs373529561 0.00144
NM_002972.4(SBF1):c.2650C>G (p.Leu884Val) rs202055128 0.00136
NM_002972.4(SBF1):c.5463C>T (p.Tyr1821=) rs144773853 0.00131
NM_002972.4(SBF1):c.2255C>T (p.Thr752Met) rs188976869 0.00122
NM_002972.4(SBF1):c.3765C>T (p.Tyr1255=) rs201985055 0.00100
NM_002972.4(SBF1):c.3922C>T (p.Arg1308Trp) rs201399007 0.00091
NM_002972.4(SBF1):c.3940A>G (p.Ser1314Gly) rs200718883 0.00088
NM_002972.4(SBF1):c.898-4G>A rs377428323 0.00088
NM_002972.4(SBF1):c.4965G>C (p.Gln1655His) rs147869659 0.00084
NM_002972.4(SBF1):c.1449C>T (p.Ala483=) rs116312398 0.00081
NM_002972.4(SBF1):c.3760C>T (p.Arg1254Cys) rs200180227 0.00077
NM_002972.4(SBF1):c.3654C>T (p.Val1218=) rs202068159 0.00071
NM_002972.4(SBF1):c.3157C>T (p.Arg1053Trp) rs202156491 0.00058
NM_002972.4(SBF1):c.5197C>T (p.Arg1733Cys) rs199972466 0.00057
NM_002972.4(SBF1):c.142-3C>T rs191369963 0.00038
NM_002972.4(SBF1):c.5471G>A (p.Arg1824His) rs202149945 0.00036
NM_002972.4(SBF1):c.4014C>A (p.Gly1338=) rs75567487 0.00035
NM_002972.4(SBF1):c.3147-8G>C rs182956712 0.00030
NM_002972.4(SBF1):c.4203C>T (p.Pro1401=) rs557575486 0.00028
NM_002972.4(SBF1):c.4768A>G (p.Thr1590Ala) rs200488568 0.00024
NM_002972.4(SBF1):c.2464G>A (p.Val822Ile) rs201061231 0.00022
NM_002972.4(SBF1):c.1432-13C>T rs76515527 0.00021
NM_002972.4(SBF1):c.1918G>C (p.Glu640Gln) rs199783239 0.00021
NM_002972.4(SBF1):c.1637-5C>T rs377462059 0.00019
NM_002972.4(SBF1):c.3191G>A (p.Gly1064Glu) rs201200122 0.00018
NM_002972.4(SBF1):c.3284-12C>T rs199652098 0.00017
NM_002972.4(SBF1):c.1803C>T (p.Leu601=) rs372396420 0.00016
NM_002972.4(SBF1):c.2502G>A (p.Val834=) rs201203951 0.00016
NM_002972.4(SBF1):c.3985G>A (p.Ala1329Thr) rs372950672 0.00016
NM_002972.4(SBF1):c.4521C>T (p.Pro1507=) rs534889802 0.00014
NM_002972.4(SBF1):c.5110G>A (p.Val1704Met) rs760339634 0.00007
NM_002972.4(SBF1):c.3801C>T (p.Phe1267=) rs536216296 0.00004
NM_002972.4(SBF1):c.2256G>A (p.Thr752=) rs377099628 0.00003
NM_002972.4(SBF1):c.5043+4C>T rs373050155 0.00003
NM_002972.4(SBF1):c.2871G>A (p.Pro957=) rs757816344 0.00002
NM_002972.4(SBF1):c.1162G>A (p.Val388Ile) rs765101409 0.00001
NM_002972.4(SBF1):c.1327G>A (p.Asp443Asn) rs690016543
NM_002972.4(SBF1):c.1333-6C>G rs781476014
NM_002972.4(SBF1):c.1804G>A (p.Ala602Thr) rs966338815
NM_002972.4(SBF1):c.2569+16C>T rs79074954
NM_002972.4(SBF1):c.3689-9C>A
NM_002972.4(SBF1):c.5311C>T (p.Arg1771Cys) rs138127298
NM_002972.4(SBF1):c.5382_5383del (p.Tyr1795fs) rs1603430221
NM_002972.4(SBF1):c.5394_5395del (p.Ala1799fs) rs1234122324
NM_002972.4(SBF1):c.5654G>A (p.Arg1885Gln)
NM_002972.4(SBF1):c.738C>T (p.Leu246=) rs374299843
NM_002972.4(SBF1):c.897+1G>A rs374026247

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