ClinVar Miner

List of variants reported as likely benign 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: 218
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006612.6(KIF1C):c.1111G>A (p.Ala371Thr) rs142056835 0.00379
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.1572-3C>T rs141461209 0.00103
NM_006612.6(KIF1C):c.1937+19C>T rs181358276 0.00082
NM_006612.6(KIF1C):c.2470G>A (p.Gly824Arg) rs533724781 0.00064
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.3198A>G (p.Gln1066=) rs143972053 0.00029
NM_006612.6(KIF1C):c.1571+6G>A rs200438845 0.00027
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.1065C>T (p.Asn355=) rs576640333 0.00016
NM_006612.6(KIF1C):c.1563C>T (p.Gly521=) rs376123205 0.00016
NM_006612.6(KIF1C):c.106+14C>T rs747550794 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.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.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.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.682C>T (p.Arg228Cys) rs141189136 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.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.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.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.1959G>A (p.Gln653=) rs759048539 0.00002
NM_006612.6(KIF1C):c.2694A>G (p.Ala898=) rs773159298 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.1152C>G (p.Ala384=) rs757618593 0.00001
NM_006612.6(KIF1C):c.1198G>A (p.Ala400Thr) rs755935386 0.00001
NM_006612.6(KIF1C):c.1488G>A (p.Lys496=) rs1269015879 0.00001
NM_006612.6(KIF1C):c.2187C>T (p.Pro729=) rs1200655580 0.00001
NM_006612.6(KIF1C):c.2727G>A (p.Pro909=) rs756493983 0.00001
NM_006612.6(KIF1C):c.3006G>A (p.Pro1002=) rs765019500 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.720+17C>G rs753249003 0.00001
NM_006612.6(KIF1C):c.849G>A (p.Ser283=) rs774623292 0.00001
NM_006612.6(KIF1C):c.1005T>G (p.Thr335=) rs763806162
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.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.1104G>A (p.Glu368=) rs1373839678
NM_006612.6(KIF1C):c.1131G>C (p.Leu377=)
NM_006612.6(KIF1C):c.114C>T (p.Ile38=) rs377337240
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.1200C>T (p.Ala400=)
NM_006612.6(KIF1C):c.1239C>G (p.Pro413=) rs2143331394
NM_006612.6(KIF1C):c.1274C>T (p.Pro425Leu)
NM_006612.6(KIF1C):c.1335+11G>A
NM_006612.6(KIF1C):c.1356T>C (p.Ala452=) rs781761447
NM_006612.6(KIF1C):c.1415+12G>A
NM_006612.6(KIF1C):c.1415+18T>G
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.1491+14C>T
NM_006612.6(KIF1C):c.1491+18C>T
NM_006612.6(KIF1C):c.1491+19G>A
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.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.1623G>A (p.Glu541=)
NM_006612.6(KIF1C):c.162C>T (p.Tyr54=)
NM_006612.6(KIF1C):c.1640G>T (p.Arg547Leu)
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.1741C>T (p.Leu581=)
NM_006612.6(KIF1C):c.1750+6_1750+8del rs551276433
NM_006612.6(KIF1C):c.1751-12_1751-10del rs756711554
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.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.1866C>T (p.Val622=)
NM_006612.6(KIF1C):c.1937+20G>A
NM_006612.6(KIF1C):c.1938-13del
NM_006612.6(KIF1C):c.1938-14C>T
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.2184C>A (p.Ile728=)
NM_006612.6(KIF1C):c.2202G>T (p.Leu734=)
NM_006612.6(KIF1C):c.2220C>A (p.Arg740=) rs534107875
NM_006612.6(KIF1C):c.2229C>T (p.Thr743=)
NM_006612.6(KIF1C):c.2250G>A (p.Gln750=)
NM_006612.6(KIF1C):c.2322G>C (p.Leu774=) rs747862350
NM_006612.6(KIF1C):c.2370C>T (p.Asp790=)
NM_006612.6(KIF1C):c.2382C>T (p.Asp794=)
NM_006612.6(KIF1C):c.2439T>C (p.Gly813=)
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.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.2601C>T (p.Arg867=)
NM_006612.6(KIF1C):c.2628+17G>T
NM_006612.6(KIF1C):c.2745G>A (p.Ser915=)
NM_006612.6(KIF1C):c.2781C>T (p.Leu927=)
NM_006612.6(KIF1C):c.2847G>T (p.Leu949=)
NM_006612.6(KIF1C):c.2880G>A (p.Gly960=)
NM_006612.6(KIF1C):c.2883G>C (p.Gly961=)
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.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.3084T>C (p.His1028=)
NM_006612.6(KIF1C):c.3090C>T (p.Arg1030=)
NM_006612.6(KIF1C):c.3120C>T (p.Ser1040=)
NM_006612.6(KIF1C):c.3129G>A (p.Ala1043=)
NM_006612.6(KIF1C):c.3129G>C (p.Ala1043=)
NM_006612.6(KIF1C):c.318C>A (p.Thr106=)
NM_006612.6(KIF1C):c.3219C>T (p.Pro1073=)
NM_006612.6(KIF1C):c.3237C>T (p.Pro1079=)
NM_006612.6(KIF1C):c.3252C>T (p.Pro1084=)
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.399C>T (p.Asn133=)
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.468C>T (p.Asp156=)
NM_006612.6(KIF1C):c.486T>C (p.Ser162=)
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.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.608+9G>C
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.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>G
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.721-14dup
NM_006612.6(KIF1C):c.721-18T>C
NM_006612.6(KIF1C):c.721-4C>T
NM_006612.6(KIF1C):c.76T>C (p.Cys26Arg)
NM_006612.6(KIF1C):c.798+13C>T
NM_006612.6(KIF1C):c.799-19A>G rs370317680
NM_006612.6(KIF1C):c.799-19A>T rs370317680
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.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

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