ClinVar Miner

Variants in gene KIF7 with conflicting interpretations

See also:
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
1116 70 0 32 51 0 2 79

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 2 1 1 1
likely pathogenic 2 0 0 0 0
uncertain significance 1 0 0 45 10
likely benign 1 0 45 0 30
benign 1 0 10 30 0

All variants with conflicting interpretations #

Total variants: 79
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_198525.3(KIF7):c.1102A>G (p.Thr368Ala) rs8037349 0.90740
NM_198525.3(KIF7):c.2658A>C (p.Ala886=) rs3803531 0.85312
NM_198525.3(KIF7):c.3048G>A (p.Ser1016=) rs9672286 0.53592
NM_198525.3(KIF7):c.3013G>A (p.Gly1005Arg) rs12900805 0.52523
NM_198525.3(KIF7):c.2873G>T (p.Ser958Ile) rs3803530 0.52464
NM_198525.3(KIF7):c.154G>A (p.Asp52Asn) rs8179065 0.20556
NM_198525.3(KIF7):c.2043T>A (p.Val681=) rs72750755 0.02861
NM_198525.3(KIF7):c.1444-4A>G rs112333674 0.02204
NM_198525.3(KIF7):c.216G>A (p.Gln72=) rs113881220 0.02077
NM_198525.3(KIF7):c.2481C>T (p.Asn827=) rs35837280 0.01186
NM_198525.3(KIF7):c.1895C>T (p.Pro632Leu) rs115857753 0.01168
NM_198525.3(KIF7):c.2271C>T (p.Ala757=) rs35451920 0.00897
NM_198525.3(KIF7):c.3012C>T (p.Arg1004=) rs61741227 0.00828
NM_198525.3(KIF7):c.3999G>C (p.Pro1333=) rs137993810 0.00730
NM_198525.3(KIF7):c.1266C>G (p.Leu422=) rs8030837 0.00552
NM_198525.3(KIF7):c.1885G>A (p.Glu629Lys) rs149814240 0.00533
NM_198525.3(KIF7):c.49C>T (p.Arg17Trp) rs141865394 0.00423
NM_198525.3(KIF7):c.2501A>G (p.Gln834Arg) rs138354681 0.00308
NM_198525.3(KIF7):c.1429G>A (p.Ala477Thr) rs527804875 0.00307
NM_198525.3(KIF7):c.1220C>A (p.Ala407Asp) rs587780375 0.00286
NM_198525.3(KIF7):c.2192-13C>T rs201251064 0.00262
NM_198525.3(KIF7):c.3111+9C>A rs147996726 0.00261
NM_198525.3(KIF7):c.2335G>C (p.Glu779Gln) rs116823950 0.00229
NM_198525.3(KIF7):c.2981A>G (p.Gln994Arg) rs138410949 0.00203
NM_198525.3(KIF7):c.3998C>A (p.Pro1333Gln) rs145726393 0.00150
NM_198525.3(KIF7):c.3842G>T (p.Ser1281Ile) rs143877028 0.00144
NM_198525.3(KIF7):c.3944C>T (p.Pro1315Leu) rs150248985 0.00138
NM_198525.3(KIF7):c.3738C>G (p.Pro1246=) rs144929293 0.00121
NM_198525.3(KIF7):c.3960T>A (p.Pro1320=) rs141028210 0.00094
NM_198525.3(KIF7):c.2237G>A (p.Arg746Gln) rs151317163 0.00062
NM_198525.3(KIF7):c.3264C>T (p.Leu1088=) rs138764398 0.00056
NM_198525.3(KIF7):c.3914G>A (p.Arg1305Gln) rs138993311 0.00035
NM_198525.3(KIF7):c.3021C>T (p.Ile1007=) rs142488318 0.00034
NM_198525.3(KIF7):c.516G>A (p.Glu172=) rs199959946 0.00032
NM_198525.3(KIF7):c.2049G>A (p.Gly683=) rs141856439 0.00031
NM_198525.3(KIF7):c.3202C>T (p.Arg1068Trp) rs147191956 0.00026
NM_198525.3(KIF7):c.2613G>A (p.Glu871=) rs370595622 0.00024
NM_198525.3(KIF7):c.3784C>T (p.Arg1262Trp) rs142598777 0.00022
NM_198525.3(KIF7):c.612C>T (p.His204=) rs398124613 0.00021
NM_198525.3(KIF7):c.952G>A (p.Ala318Thr) rs756368261 0.00015
NM_198525.3(KIF7):c.3252C>T (p.Leu1084=) rs77896636 0.00014
NM_198525.3(KIF7):c.1922+13C>T rs376321790 0.00013
NM_198525.3(KIF7):c.1390A>G (p.Ile464Val) rs570856269 0.00011
NM_198525.3(KIF7):c.3759C>G (p.Pro1253=) rs147767277 0.00010
NM_198525.3(KIF7):c.72A>C (p.Pro24=) rs773325406 0.00009
NM_198525.3(KIF7):c.3225G>A (p.Ser1075=) rs375802364 0.00008
NM_198525.3(KIF7):c.1177G>T (p.Gly393Cys) rs553968087 0.00007
NM_198525.3(KIF7):c.1296G>A (p.Leu432=) rs886051533 0.00006
NM_198525.3(KIF7):c.2322C>A (p.Leu774=) rs145339415 0.00006
NM_198525.3(KIF7):c.530-7C>T rs202043641 0.00006
NM_198525.3(KIF7):c.588G>T (p.Leu196=) rs191721354 0.00006
NM_198525.3(KIF7):c.924-14C>T rs573998309 0.00006
NM_198525.3(KIF7):c.3795G>A (p.Thr1265=) rs148749994 0.00005
NM_198525.3(KIF7):c.1164C>T (p.Gly388=) rs975756878 0.00004
NM_198525.3(KIF7):c.1290C>T (p.Pro430=) rs886051534 0.00004
NM_198525.3(KIF7):c.3123G>A (p.Thr1041=) rs146808726 0.00004
NM_198525.3(KIF7):c.61C>T (p.Arg21Ter) rs794727316 0.00003
NM_198525.3(KIF7):c.1218C>G (p.Gly406=) rs886051536 0.00001
NM_198525.3(KIF7):c.2074C>G (p.Gln692Glu) rs565633539 0.00001
NM_198525.3(KIF7):c.3112-10G>A rs370548253 0.00001
NM_198525.3(KIF7):c.3894G>A (p.Ala1298=) rs370333561 0.00001
NM_198525.3(KIF7):c.3957G>T (p.Gly1319=) rs886051529 0.00001
NM_198525.3(KIF7):c.434A>C (p.Tyr145Ser) rs758361736 0.00001
NM_198525.3(KIF7):c.510A>G (p.Glu170=) rs761029778 0.00001
NM_198525.3(KIF7):c.1221C>T (p.Ala407=) rs886051535
NM_198525.3(KIF7):c.195G>C (p.Ala65=) rs8179066
NM_198525.3(KIF7):c.2059C>A (p.Arg687=) rs138736028
NM_198525.3(KIF7):c.2079C>A (p.Val693=) rs113112856
NM_198525.3(KIF7):c.2079C>T (p.Val693=) rs113112856
NM_198525.3(KIF7):c.2337G>A (p.Glu779=) rs202089770
NM_198525.3(KIF7):c.2421G>A (p.Thr807=) rs141497185
NM_198525.3(KIF7):c.2549G>T (p.Arg850Leu) rs141514601
NM_198525.3(KIF7):c.2560_2570del (p.Ala854fs) rs762662896
NM_198525.3(KIF7):c.2592+11C>T rs78199895
NM_198525.3(KIF7):c.2719-28CCCT[6] rs3840030
NM_198525.3(KIF7):c.2719-28CCCT[8] rs3840030
NM_198525.3(KIF7):c.2895+7C>T rs549295826
NM_198525.3(KIF7):c.418C>T (p.Leu140=) rs756117745
NM_198525.3(KIF7):c.960G>A (p.Thr320=) rs886051538

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