ClinVar Miner

List of variants studied for spastic ataxia by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (21):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 446
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006612.6(KIF1C):c.2748A>G (p.Pro916=) rs346828 0.66831
NM_006612.6(KIF1C):c.1019+18A>G rs72838331 0.08330
NM_006612.6(KIF1C):c.231T>C (p.Ile77=) rs17707385 0.08025
NM_006612.6(KIF1C):c.1938-4C>G rs4790725 0.07329
NM_006612.6(KIF1C):c.1937+11G>T rs346826 0.05064
NM_006612.6(KIF1C):c.1656A>G (p.Pro552=) rs57144955 0.03773
NM_006612.6(KIF1C):c.2298C>T (p.His766=) rs73345356 0.03703
NM_006612.6(KIF1C):c.1293G>A (p.Thr431=) rs35919356 0.01482
NM_006612.6(KIF1C):c.2987G>A (p.Ser996Asn) rs115332491 0.01470
NM_006612.6(KIF1C):c.1166-8C>T rs114935927 0.01049
NM_006612.6(KIF1C):c.1751-7T>A rs148404628 0.00709
NM_006612.6(KIF1C):c.2105C>T (p.Thr702Ile) rs138935423 0.00523
NM_006612.6(KIF1C):c.1165+4G>A rs192489748 0.00449
NM_006612.6(KIF1C):c.1666+12G>C rs190329136 0.00411
NM_006612.6(KIF1C):c.1815G>A (p.Leu605=) rs78356534 0.00398
NM_006612.6(KIF1C):c.1111G>A (p.Ala371Thr) rs142056835 0.00379
NM_006612.6(KIF1C):c.2646T>C (p.Asn882=) rs77312856 0.00374
NM_006612.6(KIF1C):c.183+17G>C rs113047933 0.00357
NM_006612.6(KIF1C):c.2099C>T (p.Pro700Leu) rs148934699 0.00336
NM_006612.6(KIF1C):c.1937+14A>C rs188650236 0.00288
NM_006612.6(KIF1C):c.153C>T (p.Thr51=) rs147583562 0.00277
NM_006612.6(KIF1C):c.3071G>A (p.Arg1024Gln) rs141225452 0.00204
NM_006612.6(KIF1C):c.2299G>A (p.Gly767Arg) rs118037269 0.00157
NM_006612.6(KIF1C):c.732C>G (p.Ile244Met) rs139697370 0.00145
NM_006612.6(KIF1C):c.3027C>T (p.Val1009=) rs141589627 0.00121
NM_006612.6(KIF1C):c.885G>A (p.Ser295=) rs148489739 0.00117
NM_006612.6(KIF1C):c.2734C>T (p.Arg912Trp) rs202232792 0.00115
NM_006612.6(KIF1C):c.866A>C (p.Gln289Pro) rs146872023 0.00108
NM_006612.6(KIF1C):c.1572-3C>T rs141461209 0.00103
NM_006612.6(KIF1C):c.1937+19C>T rs181358276 0.00082
NM_006612.6(KIF1C):c.940+17C>A rs74985014 0.00066
NM_006612.6(KIF1C):c.2470G>A (p.Gly824Arg) rs533724781 0.00064
NM_006612.6(KIF1C):c.2578G>A (p.Ala860Thr) rs143671350 0.00058
NM_006612.6(KIF1C):c.2325C>T (p.Ala775=) rs113398149 0.00053
NM_006612.6(KIF1C):c.1962C>T (p.Tyr654=) rs113561684 0.00038
NM_006612.6(KIF1C):c.884C>T (p.Ser295Leu) rs145650252 0.00037
NM_006612.6(KIF1C):c.1136C>G (p.Ala379Gly) rs79290524 0.00031
NM_006612.6(KIF1C):c.3049G>A (p.Ala1017Thr) rs185185243 0.00031
NM_006612.6(KIF1C):c.1165+3C>T rs199890307 0.00030
NM_006612.6(KIF1C):c.3198A>G (p.Gln1066=) rs143972053 0.00029
NM_006612.6(KIF1C):c.1571+6G>A rs200438845 0.00027
NM_006612.6(KIF1C):c.3005C>T (p.Pro1002Leu) rs143987985 0.00026
NM_006612.6(KIF1C):c.184-8T>C rs192384276 0.00022
NM_006612.6(KIF1C):c.18G>A (p.Val6=) rs148361794 0.00022
NM_006612.6(KIF1C):c.2481G>A (p.Gly827=) rs146679209 0.00022
NM_006612.6(KIF1C):c.3088C>T (p.Arg1030Cys) rs62072492 0.00018
NM_006612.6(KIF1C):c.1065C>T (p.Asn355=) rs576640333 0.00016
NM_006612.6(KIF1C):c.1197C>T (p.Gly399=) rs142811879 0.00016
NM_006612.6(KIF1C):c.1563C>T (p.Gly521=) rs376123205 0.00016
NM_006612.6(KIF1C):c.2591G>A (p.Arg864His) rs146628704 0.00014
NM_006612.6(KIF1C):c.2920G>A (p.Asp974Asn) rs550136320 0.00014
NM_006612.6(KIF1C):c.3128C>T (p.Ala1043Val) rs373541138 0.00014
NM_006612.6(KIF1C):c.701C>T (p.Thr234Met) rs201655443 0.00013
NM_006612.6(KIF1C):c.106+14C>T rs747550794 0.00012
NM_006612.6(KIF1C):c.2006G>A (p.Arg669Gln) rs566736417 0.00012
NM_006612.6(KIF1C):c.3217C>T (p.Pro1073Ser) rs199966544 0.00012
NM_006612.6(KIF1C):c.3122G>A (p.Arg1041Gln) rs201887996 0.00011
NM_006612.6(KIF1C):c.3272G>A (p.Arg1091His) rs201800868 0.00011
NM_006612.6(KIF1C):c.941-17A>T rs202231042 0.00011
NM_006612.6(KIF1C):c.339A>G (p.Pro113=) rs142773987 0.00010
NM_006612.6(KIF1C):c.447C>T (p.Ile149=) rs767820925 0.00010
NM_006612.6(KIF1C):c.1310C>T (p.Pro437Leu) rs148619121 0.00009
NM_006612.6(KIF1C):c.1346A>G (p.Lys449Arg) rs142046798 0.00009
NM_006612.6(KIF1C):c.1365C>T (p.Asn455=) rs142825776 0.00009
NM_006612.6(KIF1C):c.2676G>A (p.Pro892=) rs200822779 0.00009
NM_006612.6(KIF1C):c.568G>A (p.Ala190Thr) rs752855724 0.00009
NM_006612.6(KIF1C):c.1353A>G (p.Ile451Met) rs374100485 0.00008
NM_006612.6(KIF1C):c.1605C>T (p.Thr535=) rs145893640 0.00008
NM_006612.6(KIF1C):c.3302del (p.Ala1101fs) rs375445356 0.00008
NM_006612.6(KIF1C):c.500G>A (p.Arg167Gln) rs199962814 0.00008
NM_006612.6(KIF1C):c.765C>T (p.Ala255=) rs755969023 0.00008
NM_006612.6(KIF1C):c.1292C>T (p.Thr431Met) rs139663513 0.00007
NM_006612.6(KIF1C):c.2366C>T (p.Pro789Leu) rs377528420 0.00007
NM_006612.6(KIF1C):c.363+5G>A rs371500484 0.00007
NM_006612.6(KIF1C):c.1387C>T (p.Arg463Cys) rs759516774 0.00006
NM_006612.6(KIF1C):c.387C>A (p.Arg129=) rs138692366 0.00006
NM_006612.6(KIF1C):c.687C>T (p.Cys229=) rs752006841 0.00006
NM_006612.6(KIF1C):c.1415+15_1415+18del rs777934473 0.00005
NM_006612.6(KIF1C):c.2253G>A (p.Ala751=) rs369231480 0.00005
NM_006612.6(KIF1C):c.2675C>T (p.Pro892Leu) rs768593463 0.00005
NM_006612.6(KIF1C):c.682C>T (p.Arg228Cys) rs141189136 0.00005
NM_006612.6(KIF1C):c.714G>A (p.Ser238=) rs368886383 0.00005
NM_006612.6(KIF1C):c.1020-14C>G rs201164122 0.00004
NM_006612.6(KIF1C):c.1492-6G>A rs372819668 0.00004
NM_006612.6(KIF1C):c.2109G>A (p.Thr703=) rs372267137 0.00004
NM_006612.6(KIF1C):c.2293C>T (p.Arg765Cys) rs767797244 0.00004
NM_006612.6(KIF1C):c.2429A>C (p.Glu810Ala) rs182610831 0.00004
NM_006612.6(KIF1C):c.2719C>T (p.Arg907Cys) rs758990694 0.00004
NM_006612.6(KIF1C):c.2887C>T (p.Arg963Cys) rs768222656 0.00004
NM_006612.6(KIF1C):c.3207A>C (p.Pro1069=) rs768877923 0.00004
NM_006612.6(KIF1C):c.528G>A (p.Pro176=) rs775719793 0.00004
NM_006612.6(KIF1C):c.766G>A (p.Asp256Asn) rs150280414 0.00004
NM_006612.6(KIF1C):c.996C>T (p.Tyr332=) rs143283587 0.00004
NM_006612.6(KIF1C):c.1261G>C (p.Gly421Arg) rs1259655283 0.00003
NM_006612.6(KIF1C):c.1284C>A (p.Ser428=) rs758493561 0.00003
NM_006612.6(KIF1C):c.1336-8G>A rs778681188 0.00003
NM_006612.6(KIF1C):c.14C>T (p.Ser5Leu) rs747424547 0.00003
NM_006612.6(KIF1C):c.2377G>A (p.Gly793Arg) rs1393424251 0.00003
NM_006612.6(KIF1C):c.2522C>T (p.Thr841Met) rs780729030 0.00003
NM_006612.6(KIF1C):c.2567G>A (p.Arg856Gln) rs372705324 0.00003
NM_006612.6(KIF1C):c.2999C>T (p.Pro1000Leu) rs267604960 0.00003
NM_006612.6(KIF1C):c.3062C>T (p.Pro1021Leu) rs369620316 0.00003
NM_006612.6(KIF1C):c.3121C>T (p.Arg1041Trp) rs200388087 0.00003
NM_006612.6(KIF1C):c.352A>C (p.Ile118Leu) rs757847238 0.00003
NM_006612.6(KIF1C):c.899A>T (p.Tyr300Phe) rs760721111 0.00003
NM_006612.6(KIF1C):c.1023T>C (p.Tyr341=) rs758863136 0.00002
NM_006612.6(KIF1C):c.1038G>A (p.Lys346=) rs753267733 0.00002
NM_006612.6(KIF1C):c.1336-10A>T rs543096465 0.00002
NM_006612.6(KIF1C):c.1571+5C>T rs191292171 0.00002
NM_006612.6(KIF1C):c.1794C>A (p.Asn598Lys) rs1371284245 0.00002
NM_006612.6(KIF1C):c.1959G>A (p.Gln653=) rs759048539 0.00002
NM_006612.6(KIF1C):c.2303G>A (p.Arg768Gln) rs552440254 0.00002
NM_006612.6(KIF1C):c.2368G>A (p.Asp790Asn) rs764241869 0.00002
NM_006612.6(KIF1C):c.2694A>G (p.Ala898=) rs773159298 0.00002
NM_006612.6(KIF1C):c.2989G>A (p.Gly997Arg) rs774701979 0.00002
NM_006612.6(KIF1C):c.3277G>A (p.Ala1093Thr) rs1269241991 0.00002
NM_006612.6(KIF1C):c.499C>T (p.Arg167Trp) rs185479618 0.00002
NM_006612.6(KIF1C):c.531C>T (p.Tyr177=) rs760890403 0.00002
NM_006612.6(KIF1C):c.1020-17G>C rs776141172 0.00001
NM_006612.6(KIF1C):c.1045C>T (p.Arg349Cys) rs187228739 0.00001
NM_006612.6(KIF1C):c.1115G>A (p.Arg372Gln) rs367997542 0.00001
NM_006612.6(KIF1C):c.1152C>G (p.Ala384=) rs757618593 0.00001
NM_006612.6(KIF1C):c.116A>G (p.Asn39Ser) rs1368090910 0.00001
NM_006612.6(KIF1C):c.1198G>A (p.Ala400Thr) rs755935386 0.00001
NM_006612.6(KIF1C):c.126G>C (p.Gln42His) rs202033753 0.00001
NM_006612.6(KIF1C):c.1488G>A (p.Lys496=) rs1269015879 0.00001
NM_006612.6(KIF1C):c.1666+5T>C rs1057523116 0.00001
NM_006612.6(KIF1C):c.1844C>T (p.Pro615Leu) rs760659714 0.00001
NM_006612.6(KIF1C):c.1847G>A (p.Gly616Glu) rs1283601775 0.00001
NM_006612.6(KIF1C):c.1938G>A (p.Arg646=) rs762688207 0.00001
NM_006612.6(KIF1C):c.2155C>T (p.Arg719Cys) rs147429300 0.00001
NM_006612.6(KIF1C):c.2187C>T (p.Pro729=) rs1200655580 0.00001
NM_006612.6(KIF1C):c.2216C>T (p.Pro739Leu) rs376385209 0.00001
NM_006612.6(KIF1C):c.2231T>C (p.Met744Thr) rs1453593139 0.00001
NM_006612.6(KIF1C):c.2443G>A (p.Ala815Thr) rs776041349 0.00001
NM_006612.6(KIF1C):c.2485G>A (p.Glu829Lys) rs539082919 0.00001
NM_006612.6(KIF1C):c.2701G>A (p.Glu901Lys) rs751072487 0.00001
NM_006612.6(KIF1C):c.2711C>G (p.Pro904Arg) rs1395728872 0.00001
NM_006612.6(KIF1C):c.2727G>A (p.Pro909=) rs756493983 0.00001
NM_006612.6(KIF1C):c.2777G>A (p.Arg926Gln) rs200925951 0.00001
NM_006612.6(KIF1C):c.2819G>A (p.Arg940His) rs774901685 0.00001
NM_006612.6(KIF1C):c.3006G>A (p.Pro1002=) rs765019500 0.00001
NM_006612.6(KIF1C):c.3070C>T (p.Arg1024Ter) rs372792586 0.00001
NM_006612.6(KIF1C):c.3098C>T (p.Ser1033Phe) rs779584975 0.00001
NM_006612.6(KIF1C):c.363+4C>T rs368371260 0.00001
NM_006612.6(KIF1C):c.37C>T (p.Arg13Trp) rs756071061 0.00001
NM_006612.6(KIF1C):c.412C>G (p.Leu138Val) rs773746672 0.00001
NM_006612.6(KIF1C):c.430-6A>T rs749747498 0.00001
NM_006612.6(KIF1C):c.471C>A (p.Leu157=) rs140531982 0.00001
NM_006612.6(KIF1C):c.527C>T (p.Pro176Leu) rs772475828 0.00001
NM_006612.6(KIF1C):c.577G>A (p.Ala193Thr) rs754938138 0.00001
NM_006612.6(KIF1C):c.720+17C>G rs753249003 0.00001
NM_006612.6(KIF1C):c.798+3G>T rs777181739 0.00001
NM_006612.6(KIF1C):c.849G>A (p.Ser283=) rs774623292 0.00001
NC_000017.10:g.(?_4916928)_(4927446_?)del
NC_000017.10:g.(?_4923281)_(4927456_?)del
NC_000017.10:g.(?_4926743)_(4927446_?)del
NC_000017.11:g.(?_4898726)_(5024161_?)dup
NM_006612.6(KIF1C):c.1005T>G (p.Thr335=) rs763806162
NM_006612.6(KIF1C):c.1009A>G (p.Ser337Gly)
NM_006612.6(KIF1C):c.1019+5G>A
NM_006612.6(KIF1C):c.1020-16C>T
NM_006612.6(KIF1C):c.1020-4C>T
NM_006612.6(KIF1C):c.1029C>T (p.Asp343=)
NM_006612.6(KIF1C):c.106+15G>A
NM_006612.6(KIF1C):c.1062C>G (p.Ile354Met)
NM_006612.6(KIF1C):c.107-16C>T
NM_006612.6(KIF1C):c.107-5C>T rs2143306363
NM_006612.6(KIF1C):c.107-7C>T
NM_006612.6(KIF1C):c.1079C>A (p.Ala360Asp)
NM_006612.6(KIF1C):c.109A>G (p.Ile37Val)
NM_006612.6(KIF1C):c.10G>T (p.Ala4Ser)
NM_006612.6(KIF1C):c.1104G>A (p.Glu368=) rs1373839678
NM_006612.6(KIF1C):c.1131G>C (p.Leu377=)
NM_006612.6(KIF1C):c.1134G>A (p.Met378Ile)
NM_006612.6(KIF1C):c.1140G>C (p.Gln380His)
NM_006612.6(KIF1C):c.114C>T (p.Ile38=) rs377337240
NM_006612.6(KIF1C):c.1165+12A>G
NM_006612.6(KIF1C):c.1165+16A>T rs2143325151
NM_006612.6(KIF1C):c.1165+17G>C
NM_006612.6(KIF1C):c.1166-19T>C
NM_006612.6(KIF1C):c.1176G>A (p.Thr392=)
NM_006612.6(KIF1C):c.1179A>G (p.Glu393=)
NM_006612.6(KIF1C):c.1189G>A (p.Val397Ile)
NM_006612.6(KIF1C):c.1200C>T (p.Ala400=)
NM_006612.6(KIF1C):c.1223C>A (p.Pro408Gln)
NM_006612.6(KIF1C):c.1238C>T (p.Pro413Leu)
NM_006612.6(KIF1C):c.1239C>G (p.Pro413=) rs2143331394
NM_006612.6(KIF1C):c.1267C>G (p.Leu423Val)
NM_006612.6(KIF1C):c.1274C>T (p.Pro425Leu)
NM_006612.6(KIF1C):c.1275G>A (p.Pro425=)
NM_006612.6(KIF1C):c.1277C>T (p.Ser426Leu) rs2143331530
NM_006612.6(KIF1C):c.1302G>C (p.Gln434His) rs144939400
NM_006612.6(KIF1C):c.1302G>T (p.Gln434His)
NM_006612.6(KIF1C):c.1323G>T (p.Met441Ile) rs1567722733
NM_006612.6(KIF1C):c.1335+11G>A
NM_006612.6(KIF1C):c.1336-18C>T
NM_006612.6(KIF1C):c.1336-3C>T
NM_006612.6(KIF1C):c.1356T>C (p.Ala452=) rs781761447
NM_006612.6(KIF1C):c.1396_1397del (p.Glu466fs)
NM_006612.6(KIF1C):c.1415+12G>A
NM_006612.6(KIF1C):c.1415+18T>G
NM_006612.6(KIF1C):c.1415+8G>T
NM_006612.6(KIF1C):c.1416-11T>C
NM_006612.6(KIF1C):c.1428G>A (p.Leu476=)
NM_006612.6(KIF1C):c.1449C>T (p.Val483=)
NM_006612.6(KIF1C):c.1487A>G (p.Lys496Arg)
NM_006612.6(KIF1C):c.1491+14C>T
NM_006612.6(KIF1C):c.1491+18C>T
NM_006612.6(KIF1C):c.1491+19G>A
NM_006612.6(KIF1C):c.1491+2T>C
NM_006612.6(KIF1C):c.1492-14C>T
NM_006612.6(KIF1C):c.1492-19C>T
NM_006612.6(KIF1C):c.1492-7C>T
NM_006612.6(KIF1C):c.152C>T (p.Thr51Ile) rs771071450
NM_006612.6(KIF1C):c.1545C>T (p.Leu515=)
NM_006612.6(KIF1C):c.1571+16C>T
NM_006612.6(KIF1C):c.1571+17G>A
NM_006612.6(KIF1C):c.1571+20C>A
NM_006612.6(KIF1C):c.1571+8G>T
NM_006612.6(KIF1C):c.1571+9T>C
NM_006612.6(KIF1C):c.1598A>G (p.Lys533Arg)
NM_006612.6(KIF1C):c.15G>A (p.Ser5=)
NM_006612.6(KIF1C):c.1618C>T (p.Arg540Trp)
NM_006612.6(KIF1C):c.1619G>A (p.Arg540Gln) rs1013580197
NM_006612.6(KIF1C):c.1623G>A (p.Glu541=)
NM_006612.6(KIF1C):c.162C>T (p.Tyr54=)
NM_006612.6(KIF1C):c.1640G>A (p.Arg547Gln) rs764242002
NM_006612.6(KIF1C):c.1640G>T (p.Arg547Leu)
NM_006612.6(KIF1C):c.1666+13G>C
NM_006612.6(KIF1C):c.1666+15G>A
NM_006612.6(KIF1C):c.1666+18GA[2]
NM_006612.6(KIF1C):c.1666+9T>C
NM_006612.6(KIF1C):c.1667-12C>T
NM_006612.6(KIF1C):c.1667-8C>G
NM_006612.6(KIF1C):c.1727C>T (p.Thr576Met)
NM_006612.6(KIF1C):c.1741C>T (p.Leu581=)
NM_006612.6(KIF1C):c.1750+6_1750+8del rs551276433
NM_006612.6(KIF1C):c.1750G>A (p.Gly584Arg)
NM_006612.6(KIF1C):c.1751-12_1751-10del rs756711554
NM_006612.6(KIF1C):c.1767G>A (p.Met589Ile)
NM_006612.6(KIF1C):c.1779C>T (p.His593=)
NM_006612.6(KIF1C):c.177C>T (p.His59=)
NM_006612.6(KIF1C):c.1800G>A (p.Pro600=)
NM_006612.6(KIF1C):c.1819C>T (p.Arg607Trp)
NM_006612.6(KIF1C):c.183+20dup
NM_006612.6(KIF1C):c.1836C>T (p.Pro612=)
NM_006612.6(KIF1C):c.184-13C>A
NM_006612.6(KIF1C):c.184-13C>T
NM_006612.6(KIF1C):c.1851G>A (p.Pro617=)
NM_006612.6(KIF1C):c.1852C>T (p.Pro618Ser) rs1975068657
NM_006612.6(KIF1C):c.185C>T (p.Thr62Met)
NM_006612.6(KIF1C):c.1866C>T (p.Val622=)
NM_006612.6(KIF1C):c.1937+20G>A
NM_006612.6(KIF1C):c.1937+4C>T
NM_006612.6(KIF1C):c.1937+5G>A rs1393131804
NM_006612.6(KIF1C):c.1938-13del
NM_006612.6(KIF1C):c.1938-14C>T
NM_006612.6(KIF1C):c.1963C>T (p.Arg655Trp)
NM_006612.6(KIF1C):c.1984G>A (p.Asp662Asn)
NM_006612.6(KIF1C):c.2010+4A>C
NM_006612.6(KIF1C):c.2010+8G>A
NM_006612.6(KIF1C):c.2011-5C>T
NM_006612.6(KIF1C):c.2011-7G>A rs764606462
NM_006612.6(KIF1C):c.2048G>A (p.Arg683His)
NM_006612.6(KIF1C):c.2070G>A (p.Arg690=)
NM_006612.6(KIF1C):c.2100G>A (p.Pro700=) rs763581921
NM_006612.6(KIF1C):c.2129G>A (p.Arg710His)
NM_006612.6(KIF1C):c.2167C>T (p.Arg723Cys)
NM_006612.6(KIF1C):c.2184C>A (p.Ile728=)
NM_006612.6(KIF1C):c.2191C>T (p.Arg731Ter) rs587777197
NM_006612.6(KIF1C):c.2202G>T (p.Leu734=)
NM_006612.6(KIF1C):c.2218C>T (p.Arg740Cys)
NM_006612.6(KIF1C):c.2220C>A (p.Arg740=) rs534107875
NM_006612.6(KIF1C):c.2229C>T (p.Thr743=)
NM_006612.6(KIF1C):c.223C>T (p.Arg75Trp) rs201085674
NM_006612.6(KIF1C):c.2250G>A (p.Gln750=)
NM_006612.6(KIF1C):c.2272G>C (p.Glu758Gln)
NM_006612.6(KIF1C):c.2322G>C (p.Leu774=) rs747862350
NM_006612.6(KIF1C):c.2339G>A (p.Arg780Gln)
NM_006612.6(KIF1C):c.2370C>T (p.Asp790=)
NM_006612.6(KIF1C):c.2371G>A (p.Gly791Ser)
NM_006612.6(KIF1C):c.2382C>T (p.Asp794=)
NM_006612.6(KIF1C):c.2425G>C (p.Glu809Gln)
NM_006612.6(KIF1C):c.2434G>C (p.Gly812Arg)
NM_006612.6(KIF1C):c.2439T>C (p.Gly813=)
NM_006612.6(KIF1C):c.2468A>T (p.Glu823Val)
NM_006612.6(KIF1C):c.2476C>G (p.Arg826Gly)
NM_006612.6(KIF1C):c.2484G>A (p.Ala828=)
NM_006612.6(KIF1C):c.2508C>T (p.His836=)
NM_006612.6(KIF1C):c.2511C>T (p.Ile837=)
NM_006612.6(KIF1C):c.2512G>T (p.Asp838Tyr)
NM_006612.6(KIF1C):c.2516A>G (p.Lys839Arg)
NM_006612.6(KIF1C):c.2523G>C (p.Thr841=) rs747321053
NM_006612.6(KIF1C):c.252C>T (p.His84=)
NM_006612.6(KIF1C):c.2535G>A (p.Gln845=)
NM_006612.6(KIF1C):c.2545C>T (p.Leu849=) rs202226954
NM_006612.6(KIF1C):c.255C>G (p.Ala85=)
NM_006612.6(KIF1C):c.2566C>T (p.Arg856Trp)
NM_006612.6(KIF1C):c.2584C>T (p.Arg862Trp)
NM_006612.6(KIF1C):c.2597T>A (p.Leu866His) rs2143389526
NM_006612.6(KIF1C):c.2599C>T (p.Arg867Cys)
NM_006612.6(KIF1C):c.2600G>C (p.Arg867Pro)
NM_006612.6(KIF1C):c.2601C>T (p.Arg867=)
NM_006612.6(KIF1C):c.2628+17G>T
NM_006612.6(KIF1C):c.2646_2647delinsCC (p.Glu883Gln)
NM_006612.6(KIF1C):c.2650G>A (p.Glu884Lys) rs1297313354
NM_006612.6(KIF1C):c.2666C>T (p.Pro889Leu)
NM_006612.6(KIF1C):c.270C>T (p.Asn90=) rs535190367
NM_006612.6(KIF1C):c.271G>A (p.Val91Met)
NM_006612.6(KIF1C):c.2726C>A (p.Pro909Gln) rs78970955
NM_006612.6(KIF1C):c.2737C>T (p.Pro913Ser)
NM_006612.6(KIF1C):c.2740C>T (p.Pro914Ser) rs2143392621
NM_006612.6(KIF1C):c.2745G>A (p.Ser915=)
NM_006612.6(KIF1C):c.2748_2749delinsGA (p.Pro917Thr) rs1555571945
NM_006612.6(KIF1C):c.2781C>T (p.Leu927=)
NM_006612.6(KIF1C):c.2833G>A (p.Glu945Lys)
NM_006612.6(KIF1C):c.2847G>T (p.Leu949=)
NM_006612.6(KIF1C):c.2853_2861del (p.949LQG[1])
NM_006612.6(KIF1C):c.2872C>T (p.Arg958Trp)
NM_006612.6(KIF1C):c.2878G>C (p.Gly960Arg)
NM_006612.6(KIF1C):c.2880G>A (p.Gly960=)
NM_006612.6(KIF1C):c.2883G>C (p.Gly961=)
NM_006612.6(KIF1C):c.2902C>A (p.Arg968Ser)
NM_006612.6(KIF1C):c.2908G>A (p.Val970Met)
NM_006612.6(KIF1C):c.2911C>A (p.Pro971Thr)
NM_006612.6(KIF1C):c.2913C>T (p.Pro971=) rs1975145101
NM_006612.6(KIF1C):c.2919C>T (p.His973=)
NM_006612.6(KIF1C):c.2934C>G (p.Arg978=)
NM_006612.6(KIF1C):c.2951A>C (p.Asn984Thr) rs372031774
NM_006612.6(KIF1C):c.2961C>G (p.His987Gln) rs1975146105
NM_006612.6(KIF1C):c.2963G>A (p.Arg988Gln)
NM_006612.6(KIF1C):c.297C>T (p.Thr99=)
NM_006612.6(KIF1C):c.2988C>T (p.Ser996=)
NM_006612.6(KIF1C):c.3024G>A (p.Glu1008=)
NM_006612.6(KIF1C):c.3027C>G (p.Val1009=)
NM_006612.6(KIF1C):c.3049G>T (p.Ala1017Ser)
NM_006612.6(KIF1C):c.3050C>T (p.Ala1017Val) rs2143394246
NM_006612.6(KIF1C):c.3052C>T (p.Arg1018Cys)
NM_006612.6(KIF1C):c.3071G>C (p.Arg1024Pro)
NM_006612.6(KIF1C):c.3082C>T (p.His1028Tyr)
NM_006612.6(KIF1C):c.3084T>C (p.His1028=)
NM_006612.6(KIF1C):c.3086C>T (p.Pro1029Leu)
NM_006612.6(KIF1C):c.3089G>A (p.Arg1030His)
NM_006612.6(KIF1C):c.3090C>T (p.Arg1030=)
NM_006612.6(KIF1C):c.3116G>A (p.Arg1039Gln)
NM_006612.6(KIF1C):c.311C>T (p.Ser104Phe) rs572156268
NM_006612.6(KIF1C):c.3120C>T (p.Ser1040=)
NM_006612.6(KIF1C):c.3127G>A (p.Ala1043Thr) rs1199087791
NM_006612.6(KIF1C):c.3129G>A (p.Ala1043=)
NM_006612.6(KIF1C):c.3129G>C (p.Ala1043=)
NM_006612.6(KIF1C):c.3140A>G (p.Gln1047Arg) rs1240123302
NM_006612.6(KIF1C):c.318C>A (p.Thr106=)
NM_006612.6(KIF1C):c.3219C>T (p.Pro1073=)
NM_006612.6(KIF1C):c.3229C>T (p.Arg1077Cys)
NM_006612.6(KIF1C):c.3237C>T (p.Pro1079=)
NM_006612.6(KIF1C):c.3239C>G (p.Pro1080Arg)
NM_006612.6(KIF1C):c.3239del (p.Pro1080fs) rs753993722
NM_006612.6(KIF1C):c.3252C>T (p.Pro1084=)
NM_006612.6(KIF1C):c.3253C>T (p.Pro1085Ser)
NM_006612.6(KIF1C):c.3265C>T (p.Arg1089Trp)
NM_006612.6(KIF1C):c.328C>T (p.Arg110Ter)
NM_006612.6(KIF1C):c.3292G>A (p.Glu1098Lys) rs1975158981
NM_006612.6(KIF1C):c.334G>A (p.Glu112Lys)
NM_006612.6(KIF1C):c.355G>A (p.Val119Met)
NM_006612.6(KIF1C):c.363+18T>C
NM_006612.6(KIF1C):c.364-17C>T
NM_006612.6(KIF1C):c.364-18C>T
NM_006612.6(KIF1C):c.366C>T (p.Leu122=)
NM_006612.6(KIF1C):c.385C>T (p.Arg129Cys) rs745851014
NM_006612.6(KIF1C):c.386G>A (p.Arg129His)
NM_006612.6(KIF1C):c.399C>T (p.Asn133=)
NM_006612.6(KIF1C):c.416C>G (p.Ser139Cys)
NM_006612.6(KIF1C):c.429+15T>C
NM_006612.6(KIF1C):c.430-6A>G
NM_006612.6(KIF1C):c.450C>T (p.Tyr150=)
NM_006612.6(KIF1C):c.456G>A (p.Glu152=)
NM_006612.6(KIF1C):c.463C>G (p.Arg155Gly) rs1291871672
NM_006612.6(KIF1C):c.468C>T (p.Asp156=)
NM_006612.6(KIF1C):c.486T>C (p.Ser162=)
NM_006612.6(KIF1C):c.487C>T (p.Arg163Trp)
NM_006612.6(KIF1C):c.48C>T (p.Asn16=)
NM_006612.6(KIF1C):c.51C>T (p.Ala17=) rs958316030
NM_006612.6(KIF1C):c.534G>T (p.Val178=)
NM_006612.6(KIF1C):c.53G>A (p.Arg18His)
NM_006612.6(KIF1C):c.548A>C (p.Lys183Thr) rs1974623326
NM_006612.6(KIF1C):c.561C>T (p.Thr187=)
NM_006612.6(KIF1C):c.564C>T (p.Ser188=)
NM_006612.6(KIF1C):c.567C>T (p.Tyr189=)
NM_006612.6(KIF1C):c.588G>T (p.Met196Ile)
NM_006612.6(KIF1C):c.601_604del (p.Lys201fs) rs2143313439
NM_006612.6(KIF1C):c.608+2_608+3dup rs1597841997
NM_006612.6(KIF1C):c.608+6G>A rs2143313510
NM_006612.6(KIF1C):c.608+9G>C
NM_006612.6(KIF1C):c.608G>A (p.Arg203Gln)
NM_006612.6(KIF1C):c.609-9T>C
NM_006612.6(KIF1C):c.651C>T (p.Ser217=)
NM_006612.6(KIF1C):c.657C>A (p.Ala219=) rs372650678
NM_006612.6(KIF1C):c.657C>T (p.Ala219=)
NM_006612.6(KIF1C):c.683G>A (p.Arg228His)
NM_006612.6(KIF1C):c.702G>A (p.Thr234=)
NM_006612.6(KIF1C):c.702G>C (p.Thr234=) rs150944204
NM_006612.6(KIF1C):c.713C>T (p.Ser238Leu)
NM_006612.6(KIF1C):c.720+11C>T rs770907929
NM_006612.6(KIF1C):c.720+12C>G
NM_006612.6(KIF1C):c.720+14C>A
NM_006612.6(KIF1C):c.720+14C>G
NM_006612.6(KIF1C):c.720+15C>T
NM_006612.6(KIF1C):c.720+16C>A
NM_006612.6(KIF1C):c.720+16C>G
NM_006612.6(KIF1C):c.720+16C>T
NM_006612.6(KIF1C):c.720+18C>A rs201947256
NM_006612.6(KIF1C):c.720+18C>G
NM_006612.6(KIF1C):c.720+18_720+20del rs10533622
NM_006612.6(KIF1C):c.720+19C>G rs757513826
NM_006612.6(KIF1C):c.720+19_720+20del rs10533622
NM_006612.6(KIF1C):c.720+20C>A
NM_006612.6(KIF1C):c.720+20C>G rs201019441
NM_006612.6(KIF1C):c.720+20C>T
NM_006612.6(KIF1C):c.720+20del rs10533622
NM_006612.6(KIF1C):c.720+20dup rs10533622
NM_006612.6(KIF1C):c.721-14dup
NM_006612.6(KIF1C):c.721-18T>C
NM_006612.6(KIF1C):c.721-4C>T
NM_006612.6(KIF1C):c.726_727insCC (p.Lys243fs) rs2143317762
NM_006612.6(KIF1C):c.743A>G (p.Asp248Gly)
NM_006612.6(KIF1C):c.764C>A (p.Ala255Asp)
NM_006612.6(KIF1C):c.768C>T (p.Asp256=)
NM_006612.6(KIF1C):c.76T>C (p.Cys26Arg)
NM_006612.6(KIF1C):c.798+13C>T
NM_006612.6(KIF1C):c.798+5G>A rs1974659801
NM_006612.6(KIF1C):c.799-19A>G rs370317680
NM_006612.6(KIF1C):c.799-19A>T rs370317680
NM_006612.6(KIF1C):c.803G>C (p.Gly268Ala)
NM_006612.6(KIF1C):c.822C>G (p.Ser274=) rs1241963621
NM_006612.6(KIF1C):c.840A>G (p.Lys280=)
NM_006612.6(KIF1C):c.843G>T (p.Val281=)
NM_006612.6(KIF1C):c.850G>A (p.Ala284Thr)
NM_006612.6(KIF1C):c.852C>T (p.Ala284=)
NM_006612.6(KIF1C):c.864+17G>A
NM_006612.6(KIF1C):c.912G>A (p.Val304=)
NM_006612.6(KIF1C):c.940+7G>A
NM_006612.6(KIF1C):c.941-8A>G
NM_006612.6(KIF1C):c.953G>A (p.Arg318His)
NM_006612.6(KIF1C):c.990C>T (p.Ile330=)
NM_006612.6(KIF1C):c.992A>G (p.Asn331Ser)

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