List of variants in gene KIF7 studied for Inborn genetic diseases

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 87

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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.2077G>T (p.Val693Phe)	rs550326630	0.00058
NM_198525.3(KIF7):c.2959G>A (p.Glu987Lys)	rs146626238	0.00057
NM_198525.3(KIF7):c.3914G>A (p.Arg1305Gln)	rs138993311	0.00035
NM_198525.3(KIF7):c.1643C>T (p.Pro548Leu)	rs369168569	0.00026
NM_198525.3(KIF7):c.3784C>T (p.Arg1262Trp)	rs142598777	0.00022
NM_198525.3(KIF7):c.1090C>T (p.Pro364Ser)	rs764965490	0.00021
NM_198525.3(KIF7):c.2426G>A (p.Arg809Gln)	rs758378987	0.00019
NM_198525.3(KIF7):c.1025A>T (p.Tyr342Phe)	rs372182012	0.00014
NM_198525.3(KIF7):c.1903C>T (p.Arg635Trp)	rs150543610	0.00014
NM_198525.3(KIF7):c.2072G>A (p.Arg691His)	rs377712806	0.00013
NM_198525.3(KIF7):c.2143A>G (p.Ile715Val)	rs774683334	0.00012
NM_198525.3(KIF7):c.3973C>T (p.Arg1325Trp)	rs777140020	0.00009
NM_198525.3(KIF7):c.1177G>T (p.Gly393Cys)	rs553968087	0.00007
NM_198525.3(KIF7):c.3976C>T (p.Arg1326Trp)	rs372979006	0.00007
NM_198525.3(KIF7):c.1741C>A (p.Pro581Thr)	rs769897141	0.00006
NM_198525.3(KIF7):c.1841G>A (p.Arg614Lys)	rs1031698510	0.00006
NM_198525.3(KIF7):c.2425C>T (p.Arg809Trp)	rs367734857	0.00006
NM_198525.3(KIF7):c.3061C>T (p.Arg1021Cys)	rs144493884	0.00006
NM_198525.3(KIF7):c.2642C>T (p.Thr881Met)	rs372660203	0.00005
NM_198525.3(KIF7):c.1585G>C (p.Glu529Gln)	rs377625808	0.00004
NM_198525.3(KIF7):c.2071C>T (p.Arg691Cys)	rs536188566	0.00004
NM_198525.3(KIF7):c.2410A>C (p.Lys804Gln)	rs747460072	0.00004
NM_198525.3(KIF7):c.2815C>T (p.Arg939Trp)	rs142786336	0.00004
NM_198525.3(KIF7):c.328+2T>G	rs781752990	0.00004
NM_198525.3(KIF7):c.235C>T (p.Leu79Phe)	rs1388988537	0.00003
NM_198525.3(KIF7):c.2551C>T (p.Arg851Cys)	rs201341169	0.00003
NM_198525.3(KIF7):c.2780G>A (p.Arg927Gln)	rs757264957	0.00003
NM_198525.3(KIF7):c.425A>G (p.His142Arg)	rs551697037	0.00003
NM_198525.3(KIF7):c.1762G>A (p.Glu588Lys)	rs746549341	0.00002
NM_198525.3(KIF7):c.2116G>T (p.Ala706Ser)	rs373361316	0.00002
NM_198525.3(KIF7):c.448A>C (p.Lys150Gln)	rs1050207869	0.00002
NM_198525.3(KIF7):c.2419A>G (p.Thr807Ala)	rs771441248	0.00001
NM_198525.3(KIF7):c.2860A>T (p.Thr954Ser)	rs1002040263	0.00001
NM_198525.3(KIF7):c.4007T>C (p.Ile1336Thr)	rs747455856	0.00001
NM_198525.3(KIF7):c.643A>G (p.Ser215Gly)	rs886051540	0.00001
NM_198525.3(KIF7):c.785C>T (p.Thr262Met)	rs1057518271	0.00001
NM_198525.3(KIF7):c.1000G>C (p.Asp334His)
NM_198525.3(KIF7):c.1101G>C (p.Glu367Asp)
NM_198525.3(KIF7):c.1249G>A (p.Asp417Asn)
NM_198525.3(KIF7):c.1264C>G (p.Leu422Val)
NM_198525.3(KIF7):c.1357G>C (p.Ala453Pro)
NM_198525.3(KIF7):c.139G>A (p.Val47Ile)
NM_198525.3(KIF7):c.1481A>C (p.Asn494Thr)	rs1313323843
NM_198525.3(KIF7):c.158G>C (p.Arg53Pro)
NM_198525.3(KIF7):c.158G>T (p.Arg53Leu)
NM_198525.3(KIF7):c.1907C>A (p.Thr636Asn)
NM_198525.3(KIF7):c.196G>A (p.Gly66Arg)
NM_198525.3(KIF7):c.2059C>G (p.Arg687Gly)	rs138736028
NM_198525.3(KIF7):c.223G>A (p.Val75Ile)
NM_198525.3(KIF7):c.2300G>A (p.Arg767Gln)
NM_198525.3(KIF7):c.2345G>A (p.Arg782Gln)	rs749948143
NM_198525.3(KIF7):c.2355G>C (p.Glu785Asp)
NM_198525.3(KIF7):c.247T>C (p.Phe83Leu)	rs770614646
NM_198525.3(KIF7):c.250G>C (p.Glu84Gln)
NM_198525.3(KIF7):c.2528G>A (p.Arg843His)
NM_198525.3(KIF7):c.2530G>T (p.Glu844Ter)
NM_198525.3(KIF7):c.2537C>G (p.Thr846Arg)
NM_198525.3(KIF7):c.2582A>G (p.His861Arg)
NM_198525.3(KIF7):c.2613G>C (p.Glu871Asp)
NM_198525.3(KIF7):c.2705T>C (p.Leu902Pro)	rs2142001189
NM_198525.3(KIF7):c.2843C>T (p.Ala948Val)
NM_198525.3(KIF7):c.2914G>A (p.Val972Met)
NM_198525.3(KIF7):c.2914G>T (p.Val972Leu)	rs79839906
NM_198525.3(KIF7):c.296G>A (p.Gly99Glu)
NM_198525.3(KIF7):c.3026G>T (p.Ser1009Ile)
NM_198525.3(KIF7):c.3067G>C (p.Glu1023Gln)
NM_198525.3(KIF7):c.3201G>C (p.Gln1067His)
NM_198525.3(KIF7):c.35A>G (p.Glu12Gly)
NM_198525.3(KIF7):c.3741G>C (p.Glu1247Asp)
NM_198525.3(KIF7):c.3754T>C (p.Ser1252Pro)
NM_198525.3(KIF7):c.3754_3771dup (p.Ser1252_Gly1257dup)	rs775576101
NM_198525.3(KIF7):c.3760C>A (p.Leu1254Ile)
NM_198525.3(KIF7):c.3761T>G (p.Leu1254Arg)
NM_198525.3(KIF7):c.3767A>C (p.Glu1256Ala)
NM_198525.3(KIF7):c.3773C>A (p.Ala1258Asp)
NM_198525.3(KIF7):c.3781A>C (p.Thr1261Pro)
NM_198525.3(KIF7):c.3794C>T (p.Thr1265Met)
NM_198525.3(KIF7):c.3907G>C (p.Val1303Leu)
NM_198525.3(KIF7):c.3913C>T (p.Arg1305Trp)
NM_198525.3(KIF7):c.3970C>T (p.Pro1324Ser)
NM_198525.3(KIF7):c.518G>A (p.Arg173His)
NM_198525.3(KIF7):c.62G>A (p.Arg21Gln)
NM_198525.3(KIF7):c.700C>A (p.Arg234Ser)
NM_198525.3(KIF7):c.747C>G (p.His249Gln)
NM_198525.3(KIF7):c.917T>C (p.Ile306Thr)
NM_198525.3(KIF7):c.934G>A (p.Asp312Asn)

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