ClinVar Miner

List of variants in gene KIF7 reported as uncertain significance for Acrocallosal syndrome; Multiple epiphyseal dysplasia, Al-Gazali type; Hydrolethalus syndrome 2

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 237
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HGVS dbSNP gnomAD frequency
NM_198525.3(KIF7):c.2173G>A (p.Gly725Ser) rs150227461 0.00064
NM_198525.3(KIF7):c.2959G>A (p.Glu987Lys) rs146626238 0.00052
NM_198525.3(KIF7):c.461G>A (p.Arg154Gln) rs180758272 0.00050
NM_198525.3(KIF7):c.2672G>C (p.Arg891Thr) rs143250090 0.00046
NM_198525.3(KIF7):c.1443+5C>T rs778312422 0.00043
NM_198525.3(KIF7):c.1177G>T (p.Gly393Cys) rs553968087 0.00042
NM_198525.3(KIF7):c.2675G>A (p.Arg892His) rs143866575 0.00029
NM_198525.3(KIF7):c.1270C>T (p.Arg424Cys) rs550404869 0.00024
NM_198525.3(KIF7):c.3784C>T (p.Arg1262Trp) rs142598777 0.00022
NM_198525.3(KIF7):c.3797G>A (p.Arg1266Gln) rs144301755 0.00020
NM_198525.3(KIF7):c.2105G>A (p.Arg702Gln) rs149078926 0.00018
NM_198525.3(KIF7):c.1412A>C (p.Asp471Ala) rs922192277 0.00015
NM_198525.3(KIF7):c.952G>A (p.Ala318Thr) rs756368261 0.00015
NM_198525.3(KIF7):c.2143A>G (p.Ile715Val) rs774683334 0.00012
NM_198525.3(KIF7):c.2191+7C>T rs371970440 0.00011
NM_198525.3(KIF7):c.2219A>G (p.Gln740Arg) rs147679100 0.00011
NM_198525.3(KIF7):c.2482G>A (p.Val828Met) rs143915145 0.00011
NM_198525.3(KIF7):c.2420C>T (p.Thr807Met) rs757175418 0.00010
NM_198525.3(KIF7):c.2548C>T (p.Arg850Trp) rs200210231 0.00010
NM_198525.3(KIF7):c.3224C>T (p.Ser1075Leu) rs149378390 0.00010
NM_198525.3(KIF7):c.3196C>T (p.Arg1066Cys) rs77474187 0.00007
NM_198525.3(KIF7):c.1603C>T (p.Arg535Trp) rs758219521 0.00006
NM_198525.3(KIF7):c.1708G>C (p.Gly570Arg) rs569225496 0.00006
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.1961G>A (p.Arg654His) rs542994181 0.00006
NM_198525.3(KIF7):c.2425C>T (p.Arg809Trp) rs367734857 0.00006
NM_198525.3(KIF7):c.2674C>T (p.Arg892Cys) rs146368430 0.00006
NM_198525.3(KIF7):c.2692T>C (p.Ser898Pro) rs927320562 0.00006
NM_198525.3(KIF7):c.3713A>G (p.Asn1238Ser) rs371960047 0.00006
NM_198525.3(KIF7):c.1304C>T (p.Ala435Val) rs976073468 0.00005
NM_198525.3(KIF7):c.2642C>T (p.Thr881Met) rs372660203 0.00005
NM_198525.3(KIF7):c.2758G>C (p.Glu920Gln) rs746577567 0.00005
NM_198525.3(KIF7):c.2815C>T (p.Arg939Trp) rs142786336 0.00005
NM_198525.3(KIF7):c.322A>T (p.Ser108Cys) rs754667399 0.00005
NM_198525.3(KIF7):c.3778C>T (p.Arg1260Cys) rs140562404 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.3815C>T (p.Pro1272Leu) rs765907353 0.00004
NM_198525.3(KIF7):c.1157A>T (p.His386Leu) rs886051537 0.00003
NM_198525.3(KIF7):c.1297C>A (p.Pro433Thr) rs932033181 0.00003
NM_198525.3(KIF7):c.139G>A (p.Val47Ile) rs770323687 0.00003
NM_198525.3(KIF7):c.1717G>A (p.Ala573Thr) rs369321011 0.00003
NM_198525.3(KIF7):c.2186G>A (p.Arg729His) rs142420701 0.00003
NM_198525.3(KIF7):c.2522G>A (p.Arg841Gln) rs750616880 0.00003
NM_198525.3(KIF7):c.2735A>G (p.Lys912Arg) rs764430327 0.00003
NM_198525.3(KIF7):c.2878C>T (p.Arg960Cys) rs766652877 0.00003
NM_198525.3(KIF7):c.3047C>T (p.Ser1016Leu) rs184438388 0.00003
NM_198525.3(KIF7):c.3887G>A (p.Arg1296Gln) rs201363681 0.00003
NM_198525.3(KIF7):c.3907G>C (p.Val1303Leu) rs756672880 0.00003
NM_198525.3(KIF7):c.1069T>G (p.Trp357Gly) rs1449579286 0.00002
NM_198525.3(KIF7):c.1264C>G (p.Leu422Val) rs1003549826 0.00002
NM_198525.3(KIF7):c.1312C>T (p.Arg438Cys) rs1263045856 0.00002
NM_198525.3(KIF7):c.1730G>A (p.Gly577Asp) rs963468113 0.00002
NM_198525.3(KIF7):c.1804A>T (p.Arg602Trp) rs756170615 0.00002
NM_198525.3(KIF7):c.2104C>T (p.Arg702Trp) rs781032745 0.00002
NM_198525.3(KIF7):c.2266C>T (p.Arg756Trp) rs570853380 0.00002
NM_198525.3(KIF7):c.2476C>T (p.Arg826Trp) rs139711238 0.00002
NM_198525.3(KIF7):c.2521C>T (p.Arg841Trp) rs147040400 0.00002
NM_198525.3(KIF7):c.2816G>A (p.Arg939Gln) rs771525697 0.00002
NM_198525.3(KIF7):c.3704C>T (p.Ala1235Val) rs767690124 0.00002
NM_198525.3(KIF7):c.37G>A (p.Glu13Lys) rs765192038 0.00002
NM_198525.3(KIF7):c.3835C>T (p.Arg1279Cys) rs749221779 0.00002
NM_198525.3(KIF7):c.3974G>A (p.Arg1325Gln) rs73477443 0.00002
NM_198525.3(KIF7):c.716C>A (p.Ala239Asp) rs1188936390 0.00002
NM_198525.3(KIF7):c.747C>G (p.His249Gln) rs1046713732 0.00002
NM_198525.3(KIF7):c.1158C>A (p.His386Gln) rs1208805083 0.00001
NM_198525.3(KIF7):c.1285G>A (p.Glu429Lys) rs946190172 0.00001
NM_198525.3(KIF7):c.1287G>T (p.Glu429Asp) rs1297297468 0.00001
NM_198525.3(KIF7):c.1457C>T (p.Ala486Val) rs1305987882 0.00001
NM_198525.3(KIF7):c.1711G>A (p.Ala571Thr) rs140185951 0.00001
NM_198525.3(KIF7):c.1960C>T (p.Arg654Cys) rs370083276 0.00001
NM_198525.3(KIF7):c.196G>A (p.Gly66Arg) rs532675934 0.00001
NM_198525.3(KIF7):c.2011T>G (p.Leu671Val) rs370604741 0.00001
NM_198525.3(KIF7):c.2132G>A (p.Arg711Gln) rs368873919 0.00001
NM_198525.3(KIF7):c.2165A>G (p.Glu722Gly) rs758416079 0.00001
NM_198525.3(KIF7):c.2227C>A (p.Gln743Lys) rs145324453 0.00001
NM_198525.3(KIF7):c.2230C>T (p.Arg744Cys) rs1269915713 0.00001
NM_198525.3(KIF7):c.2283A>T (p.Glu761Asp) rs758677022 0.00001
NM_198525.3(KIF7):c.2354A>T (p.Glu785Val) rs759424882 0.00001
NM_198525.3(KIF7):c.2456A>C (p.Lys819Thr) rs374111371 0.00001
NM_198525.3(KIF7):c.2887T>A (p.Ser963Thr) rs567836651 0.00001
NM_198525.3(KIF7):c.2896-17G>A rs935084157 0.00001
NM_198525.3(KIF7):c.2896-18T>A rs528968559 0.00001
NM_198525.3(KIF7):c.2896-9T>C rs746943281 0.00001
NM_198525.3(KIF7):c.2935G>A (p.Glu979Lys) rs558313041 0.00001
NM_198525.3(KIF7):c.2963A>G (p.Lys988Arg) rs1489699836 0.00001
NM_198525.3(KIF7):c.3067G>A (p.Glu1023Lys) rs761599017 0.00001
NM_198525.3(KIF7):c.3109G>A (p.Glu1037Lys) rs779514045 0.00001
NM_198525.3(KIF7):c.3197G>A (p.Arg1066His) rs763937653 0.00001
NM_198525.3(KIF7):c.3203G>A (p.Arg1068Gln) rs767837351 0.00001
NM_198525.3(KIF7):c.3241G>A (p.Glu1081Lys) rs1416370668 0.00001
NM_198525.3(KIF7):c.3248A>C (p.Asn1083Thr) rs746652178 0.00001
NM_198525.3(KIF7):c.3278C>T (p.Ser1093Phe) rs762038154 0.00001
NM_198525.3(KIF7):c.3866C>A (p.Ser1289Tyr) rs750002097 0.00001
NM_198525.3(KIF7):c.3874G>A (p.Glu1292Lys) rs1044478234 0.00001
NM_198525.3(KIF7):c.394G>A (p.Asp132Asn) rs1410526224 0.00001
NM_198525.3(KIF7):c.4016G>A (p.Arg1339Gln) rs747829509 0.00001
NM_198525.3(KIF7):c.43C>T (p.Pro15Ser) rs1454209591 0.00001
NM_198525.3(KIF7):c.541G>A (p.Val181Met) rs1409898901 0.00001
NM_198525.3(KIF7):c.657G>A (p.Thr219=) rs1273641096 0.00001
NM_198525.3(KIF7):c.715G>A (p.Ala239Thr) rs1394292136 0.00001
NM_198525.3(KIF7):c.785C>T (p.Thr262Met) rs1057518271 0.00001
NM_198525.3(KIF7):c.869G>A (p.Gly290Glu) rs531693490 0.00001
NM_198525.3(KIF7):c.962T>C (p.Val321Ala) rs913347544 0.00001
NM_198525.3(KIF7):c.976G>A (p.Val326Ile) rs1964066861 0.00001
NM_198525.3(KIF7):c.1009C>T (p.Leu337Phe)
NM_198525.3(KIF7):c.1026C>T (p.Tyr342=)
NM_198525.3(KIF7):c.1069T>C (p.Trp357Arg)
NM_198525.3(KIF7):c.1101G>C (p.Glu367Asp) rs1187090250
NM_198525.3(KIF7):c.1130G>A (p.Arg377Gln)
NM_198525.3(KIF7):c.1130G>C (p.Arg377Pro)
NM_198525.3(KIF7):c.1136G>T (p.Arg379Leu)
NM_198525.3(KIF7):c.1156C>T (p.His386Tyr)
NM_198525.3(KIF7):c.1168C>G (p.Arg390Gly) rs1964060352
NM_198525.3(KIF7):c.1208T>G (p.Met403Arg)
NM_198525.3(KIF7):c.1240G>A (p.Ala414Thr)
NM_198525.3(KIF7):c.1240G>C (p.Ala414Pro)
NM_198525.3(KIF7):c.1251C>G (p.Asp417Glu)
NM_198525.3(KIF7):c.1307C>T (p.Ala436Val)
NM_198525.3(KIF7):c.1321C>A (p.Arg441Ser)
NM_198525.3(KIF7):c.1352G>A (p.Arg451His)
NM_198525.3(KIF7):c.1369G>A (p.Ala457Thr)
NM_198525.3(KIF7):c.1370C>G (p.Ala457Gly)
NM_198525.3(KIF7):c.1380C>T (p.Pro460=)
NM_198525.3(KIF7):c.1403C>T (p.Ser468Phe)
NM_198525.3(KIF7):c.1444-7C>G
NM_198525.3(KIF7):c.1459C>A (p.Gln487Lys) rs1396213606
NM_198525.3(KIF7):c.1490C>T (p.Ala497Val)
NM_198525.3(KIF7):c.1559A>G (p.Gln520Arg)
NM_198525.3(KIF7):c.1560+8G>T
NM_198525.3(KIF7):c.1560+9C>T
NM_198525.3(KIF7):c.1567C>T (p.Arg523Trp)
NM_198525.3(KIF7):c.1591_1592delinsGA (p.Met531Glu)
NM_198525.3(KIF7):c.1609C>A (p.Arg537=)
NM_198525.3(KIF7):c.1634G>T (p.Trp545Leu)
NM_198525.3(KIF7):c.1645C>T (p.Arg549Trp)
NM_198525.3(KIF7):c.1678G>A (p.Val560Met)
NM_198525.3(KIF7):c.1788+17G>T
NM_198525.3(KIF7):c.1789-9C>T
NM_198525.3(KIF7):c.1814G>T (p.Gly605Val)
NM_198525.3(KIF7):c.1820A>T (p.Glu607Val)
NM_198525.3(KIF7):c.1826T>C (p.Leu609Pro)
NM_198525.3(KIF7):c.1832A>T (p.Glu611Val)
NM_198525.3(KIF7):c.1879GAG[4] (p.Glu631del) rs750610579
NM_198525.3(KIF7):c.1883A>G (p.Glu628Gly)
NM_198525.3(KIF7):c.1921A>G (p.Arg641Gly) rs137905815
NM_198525.3(KIF7):c.1952C>T (p.Ala651Val)
NM_198525.3(KIF7):c.2079C>A (p.Val693=) rs113112856
NM_198525.3(KIF7):c.2132G>C (p.Arg711Pro)
NM_198525.3(KIF7):c.2137C>G (p.Leu713Val)
NM_198525.3(KIF7):c.2145C>G (p.Ile715Met)
NM_198525.3(KIF7):c.2225G>A (p.Ser742Asn) rs1440715352
NM_198525.3(KIF7):c.2252_2263del (p.Glu751_Gln754del)
NM_198525.3(KIF7):c.2290A>G (p.Arg764Gly)
NM_198525.3(KIF7):c.2345G>A (p.Arg782Gln) rs749948143
NM_198525.3(KIF7):c.2360G>A (p.Arg787His)
NM_198525.3(KIF7):c.2363G>A (p.Arg788Lys)
NM_198525.3(KIF7):c.2372C>G (p.Ala791Gly)
NM_198525.3(KIF7):c.2395-13G>A
NM_198525.3(KIF7):c.2426G>C (p.Arg809Pro)
NM_198525.3(KIF7):c.2459G>C (p.Arg820Pro)
NM_198525.3(KIF7):c.247T>C (p.Phe83Leu) rs770614646
NM_198525.3(KIF7):c.247T>G (p.Phe83Val) rs770614646
NM_198525.3(KIF7):c.2494C>T (p.Arg832Trp) rs745638889
NM_198525.3(KIF7):c.2519G>A (p.Arg840Lys) rs2505438012
NM_198525.3(KIF7):c.2537C>T (p.Thr846Met) rs151034440
NM_198525.3(KIF7):c.2575C>T (p.Arg859Trp)
NM_198525.3(KIF7):c.259A>C (p.Asn87His) rs147947221
NM_198525.3(KIF7):c.2610T>A (p.His870Gln) rs771049459
NM_198525.3(KIF7):c.2653G>A (p.Ala885Thr)
NM_198525.3(KIF7):c.2654C>A (p.Ala885Glu) rs774073055
NM_198525.3(KIF7):c.2684G>C (p.Ser895Thr)
NM_198525.3(KIF7):c.2689G>C (p.Gly897Arg) rs149548398
NM_198525.3(KIF7):c.269T>A (p.Val90Asp)
NM_198525.3(KIF7):c.2734AAG[1] (p.Lys913del) rs769890385
NM_198525.3(KIF7):c.2748C>G (p.Asp916Glu) rs746321431
NM_198525.3(KIF7):c.2837A>G (p.Lys946Arg)
NM_198525.3(KIF7):c.2871G>C (p.Glu957Asp)
NM_198525.3(KIF7):c.287C>T (p.Thr96Met)
NM_198525.3(KIF7):c.2895+5_2895+6delinsTA
NM_198525.3(KIF7):c.2914G>T (p.Val972Leu) rs79839906
NM_198525.3(KIF7):c.2917C>G (p.Arg973Gly) rs202229910
NM_198525.3(KIF7):c.2956T>C (p.Ser986Pro) rs2141998277
NM_198525.3(KIF7):c.2968G>T (p.Gly990Trp)
NM_198525.3(KIF7):c.29G>A (p.Gly10Glu) rs543942301
NM_198525.3(KIF7):c.3032G>A (p.Arg1011His)
NM_198525.3(KIF7):c.3036G>C (p.Gln1012His)
NM_198525.3(KIF7):c.3040A>G (p.Lys1014Glu)
NM_198525.3(KIF7):c.3057G>C (p.Lys1019Asn)
NM_198525.3(KIF7):c.3069G>C (p.Glu1023Asp)
NM_198525.3(KIF7):c.310A>T (p.Met104Leu)
NM_198525.3(KIF7):c.3112-13C>G
NM_198525.3(KIF7):c.3118C>T (p.Arg1040Trp)
NM_198525.3(KIF7):c.3142G>A (p.Ala1048Thr)
NM_198525.3(KIF7):c.3145A>G (p.Ile1049Val)
NM_198525.3(KIF7):c.3148G>A (p.Glu1050Lys) rs983384787
NM_198525.3(KIF7):c.3164C>T (p.Ala1055Val)
NM_198525.3(KIF7):c.3167T>C (p.Ile1056Thr)
NM_198525.3(KIF7):c.3175A>G (p.Lys1059Glu)
NM_198525.3(KIF7):c.3182A>C (p.Glu1061Ala)
NM_198525.3(KIF7):c.325G>A (p.Val109Met)
NM_198525.3(KIF7):c.329-26_329-13del rs556031779
NM_198525.3(KIF7):c.3318+3_3318+5del
NM_198525.3(KIF7):c.3318+6C>T
NM_198525.3(KIF7):c.334C>A (p.Leu112Ile)
NM_198525.3(KIF7):c.363G>T (p.Pro121=)
NM_198525.3(KIF7):c.3689C>T (p.Ser1230Leu)
NM_198525.3(KIF7):c.3700C>G (p.Gln1234Glu)
NM_198525.3(KIF7):c.3758C>A (p.Pro1253His)
NM_198525.3(KIF7):c.3769G>A (p.Gly1257Arg)
NM_198525.3(KIF7):c.3778dup (p.Arg1260fs) rs777426943
NM_198525.3(KIF7):c.3784del (p.Arg1262fs)
NM_198525.3(KIF7):c.3802T>G (p.Leu1268Val)
NM_198525.3(KIF7):c.3806T>C (p.Val1269Ala)
NM_198525.3(KIF7):c.386A>C (p.Lys129Thr)
NM_198525.3(KIF7):c.3882G>T (p.Arg1294Ser)
NM_198525.3(KIF7):c.3910G>T (p.Gly1304Trp)
NM_198525.3(KIF7):c.3914G>C (p.Arg1305Pro)
NM_198525.3(KIF7):c.3986G>A (p.Arg1329Gln) rs202214398
NM_198525.3(KIF7):c.4029_*5del (p.Leu1343_Ter1344delinsXaa)
NM_198525.3(KIF7):c.529+3G>A
NM_198525.3(KIF7):c.541G>T (p.Val181Leu)
NM_198525.3(KIF7):c.613A>G (p.Thr205Ala)
NM_198525.3(KIF7):c.636C>G (p.His212Gln)
NM_198525.3(KIF7):c.655A>G (p.Thr219Ala)
NM_198525.3(KIF7):c.667G>T (p.Val223Leu)
NM_198525.3(KIF7):c.690C>T (p.Arg230=) rs755148549
NM_198525.3(KIF7):c.710G>A (p.Arg237His) rs529571444
NM_198525.3(KIF7):c.794C>A (p.Thr265Asn)
NM_198525.3(KIF7):c.852C>T (p.Asn284=) rs55765051
NM_198525.3(KIF7):c.853G>A (p.Val285Ile)
NM_198525.3(KIF7):c.884G>A (p.Arg295Gln)
NM_198525.3(KIF7):c.911C>G (p.Ser304Cys)
NM_198525.3(KIF7):c.924-7_924-5delinsGCT
NM_198525.3(KIF7):c.946G>A (p.Gly316Arg)
NM_198525.3(KIF7):c.964A>G (p.Met322Val)

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