ClinVar Miner

List of variants studied for Acrocallosal syndrome; Multiple epiphyseal dysplasia, Al-Gazali type; Hydrolethalus syndrome 2

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 295
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_198525.3(KIF7):c.1885G>A (p.Glu629Lys) rs149814240 0.00533
NM_198525.3(KIF7):c.1429G>A (p.Ala477Thr) rs527804875 0.00283
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.355A>G (p.Ile119Val) rs761226001 0.00028
NM_198525.3(KIF7):c.1643C>T (p.Pro548Leu) rs369168569 0.00026
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.1090C>T (p.Pro364Ser) rs764965490 0.00021
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.2364G>C (p.Arg788Ser) rs117123311 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.3585G>C (p.Lys1195Asn) rs200782729 0.00009
NM_198525.3(KIF7):c.72A>C (p.Pro24=) rs773325406 0.00009
NM_198525.3(KIF7):c.3196C>T (p.Arg1066Cys) rs77474187 0.00007
NM_198525.3(KIF7):c.3428A>G (p.Glu1143Gly) rs755353975 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.3061C>T (p.Arg1021Cys) rs144493884 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.2896_2897del (p.Ala966fs) rs752248403 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.1443+2T>C rs751900799 0.00004
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.2529C>T (p.Arg843=) rs199783943 0.00004
NM_198525.3(KIF7):c.328+2T>G rs781752990 0.00004
NM_198525.3(KIF7):c.3815C>T (p.Pro1272Leu) rs765907353 0.00004
NM_198525.3(KIF7):c.50G>A (p.Arg17Gln) rs949983017 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.3430C>T (p.Arg1144Trp) rs571807299 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.61C>T (p.Arg21Ter) rs794727316 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.1789-2A>G rs989653101 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.1019dup (p.Asn341fs) rs1964065704 0.00001
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.3235C>T (p.Gln1079Ter) rs1963646325 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.3451C>T (p.Arg1151Cys) rs886044617 0.00001
NM_198525.3(KIF7):c.350_353dup (p.Ile119fs) rs1379956683 0.00001
NM_198525.3(KIF7):c.3628A>G (p.Lys1210Glu) rs751522626 0.00001
NM_198525.3(KIF7):c.3664+1G>A rs779849448 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.67C>T (p.Arg23Ter) rs1235928535 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.1149dup (p.Ile384fs) rs2142028862
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.1248del (p.Asp417fs) rs1253153154
NM_198525.3(KIF7):c.1251C>G (p.Asp417Glu)
NM_198525.3(KIF7):c.1295_1307dup (p.Lys439fs)
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.1703del (p.Leu568fs)
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.2515C>T (p.Gln839Ter)
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.2560_2570del (p.Ala854fs) rs762662896
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.2618del (p.Gln873fs)
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.2718+1G>A
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.2758G>T (p.Glu920Ter)
NM_198525.3(KIF7):c.2837A>G (p.Lys946Arg)
NM_198525.3(KIF7):c.2869G>T (p.Glu957Ter)
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.3195C>A (p.Cys1065Ter)
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.3319-13G>A rs371154050
NM_198525.3(KIF7):c.3345C>G (p.His1115Gln) rs142032413
NM_198525.3(KIF7):c.334C>A (p.Leu112Ile)
NM_198525.3(KIF7):c.3361T>G (p.Phe1121Val)
NM_198525.3(KIF7):c.3365C>G (p.Ser1122Trp) rs202195179
NM_198525.3(KIF7):c.3366G>A (p.Ser1122=) rs771583869
NM_198525.3(KIF7):c.3425T>G (p.Leu1142Arg)
NM_198525.3(KIF7):c.3430C>G (p.Arg1144Gly)
NM_198525.3(KIF7):c.3431G>T (p.Arg1144Leu) rs756521084
NM_198525.3(KIF7):c.3452G>A (p.Arg1151His)
NM_198525.3(KIF7):c.3480C>G (p.His1160Gln) rs755087413
NM_198525.3(KIF7):c.3518-12T>G
NM_198525.3(KIF7):c.3569T>A (p.Ile1190Asn)
NM_198525.3(KIF7):c.3572A>G (p.Gln1191Arg)
NM_198525.3(KIF7):c.3616G>A (p.Glu1206Lys)
NM_198525.3(KIF7):c.3624_3629dup (p.Gln1209_Lys1210dup) rs752086211
NM_198525.3(KIF7):c.3637G>A (p.Gly1213Ser) rs143316368
NM_198525.3(KIF7):c.3637G>C (p.Gly1213Arg) rs143316368
NM_198525.3(KIF7):c.363G>T (p.Pro121=)
NM_198525.3(KIF7):c.3662G>C (p.Arg1221Thr)
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.3838_3886del (p.Ser1280fs)
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.710G>T (p.Arg237Leu) rs529571444
NM_198525.3(KIF7):c.719_720insT (p.Gln242fs)
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.923+2T>G
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)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.