ClinVar Miner

Variants in gene KIF7 with conflicting interpretations "uncertain significance" and "likely benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 43
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HGVS dbSNP gnomAD frequency
NM_198525.3(KIF7):c.1220C>A (p.Ala407Asp) rs587780375 0.00286
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.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.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.588G>T (p.Leu196=) rs191721354 0.00006
NM_198525.3(KIF7):c.924-14C>T rs573998309 0.00006
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.1218C>G (p.Gly406=) rs886051536 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.510A>G (p.Glu170=) rs761029778 0.00001
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.418C>T (p.Leu140=) rs756117745
NM_198525.3(KIF7):c.960G>A (p.Thr320=) rs886051538

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