ClinVar Miner

List of variants in gene ARFGEF1, CSPP1 studied for cerebellar ataxia

Included ClinVar conditions (255):
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Gene type:
ClinVar version:
Total variants: 190
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HGVS dbSNP gnomAD frequency
NM_001382391.1(CSPP1):c.3313T>C (p.Trp1105Arg) rs1808140 0.02204
NM_001382391.1(CSPP1):c.3138A>G (p.Lys1046=) rs76567936 0.01632
NM_001382391.1(CSPP1):c.3110-11A>G rs148930801 0.00781
NM_001382391.1(CSPP1):c.3220+13A>G rs139491415 0.00625
NM_001382391.1(CSPP1):c.3109+18C>T rs139599638 0.00242
NM_001382391.1(CSPP1):c.3165T>C (p.Asp1055=) rs10112748 0.00231
NM_001382391.1(CSPP1):c.3285C>T (p.Pro1095=) rs201008264 0.00173
NM_001382391.1(CSPP1):c.3493C>T (p.Pro1165Ser) rs200161440 0.00131
NM_001382391.1(CSPP1):c.3470-20G>T rs148896413 0.00076
NM_001382391.1(CSPP1):c.3157-15A>G rs199558831 0.00052
NM_001382391.1(CSPP1):c.3106A>G (p.Lys1036Glu) rs369060106 0.00036
NM_001382391.1(CSPP1):c.3156+6C>T rs375100195 0.00021
NM_001382391.1(CSPP1):c.3529T>G (p.Ser1177Ala) rs374262758 0.00016
NM_001382391.1(CSPP1):c.3466dup (p.Thr1156fs) rs748602759 0.00013
NM_001382391.1(CSPP1):c.3578C>T (p.Thr1193Met) rs201142840 0.00013
NM_001382391.1(CSPP1):c.2987A>C (p.Asp996Ala) rs371720718 0.00011
NM_001382391.1(CSPP1):c.3430C>T (p.Arg1144Ter) rs200346372 0.00011
NM_001382391.1(CSPP1):c.3655C>G (p.Gln1219Glu) rs368550470 0.00011
NM_001382391.1(CSPP1):c.3157C>T (p.Pro1053Ser) rs371681100 0.00009
NM_001382391.1(CSPP1):c.3188A>G (p.Asn1063Ser) rs201884732 0.00009
NM_001382391.1(CSPP1):c.3330+18C>A rs372999075 0.00009
NM_001382391.1(CSPP1):c.3431G>A (p.Arg1144Gln) rs763390190 0.00009
NM_001382391.1(CSPP1):c.2981G>A (p.Arg994Gln) rs367949127 0.00008
NM_001382391.1(CSPP1):c.3109G>A (p.Val1037Ile) rs200546493 0.00007
NM_001382391.1(CSPP1):c.3457C>T (p.Pro1153Ser) rs181079660 0.00007
NM_001382391.1(CSPP1):c.3157-7C>T rs750714624 0.00005
NM_001382391.1(CSPP1):c.3029C>G (p.Thr1010Ser) rs750443075 0.00004
NM_001382391.1(CSPP1):c.3157-16A>G rs374129705 0.00004
NM_001382391.1(CSPP1):c.3275C>T (p.Ser1092Leu) rs768603321 0.00004
NM_001382391.1(CSPP1):c.3613G>C (p.Glu1205Gln) rs201972175 0.00004
NM_001382391.1(CSPP1):c.3221-14C>T rs202201525 0.00003
NM_001382391.1(CSPP1):c.3245C>T (p.Ala1082Val) rs199738369 0.00003
NM_001382391.1(CSPP1):c.3296A>G (p.Glu1099Gly) rs201629827 0.00003
NM_001382391.1(CSPP1):c.3364C>T (p.Leu1122Phe) rs1421998303 0.00003
NM_001382391.1(CSPP1):c.3405T>G (p.Leu1135=) rs376215036 0.00003
NM_001382391.1(CSPP1):c.3559C>T (p.Arg1187Cys) rs781579090 0.00003
NM_001382391.1(CSPP1):c.3139G>C (p.Val1047Leu) rs755275549 0.00002
NM_001382391.1(CSPP1):c.3221-19C>T rs750846829 0.00002
NM_001382391.1(CSPP1):c.3268C>T (p.Pro1090Ser) rs200930857 0.00002
NM_001382391.1(CSPP1):c.3292C>T (p.Arg1098Trp) rs759630451 0.00002
NM_001382391.1(CSPP1):c.3330+11G>A rs1339355378 0.00002
NM_001382391.1(CSPP1):c.3424C>T (p.Arg1142Ter) rs201261521 0.00002
NM_001382391.1(CSPP1):c.3579G>A (p.Thr1193=) rs552763349 0.00002
NM_001382391.1(CSPP1):c.3638C>G (p.Pro1213Arg) rs527426163 0.00002
NM_001382391.1(CSPP1):c.3645T>G (p.Thr1215=) rs749332092 0.00002
NM_001382391.1(CSPP1):c.2980C>T (p.Arg994Ter) rs760275528 0.00001
NM_001382391.1(CSPP1):c.2986G>A (p.Asp996Asn) rs1384362094 0.00001
NM_001382391.1(CSPP1):c.3109+20G>A rs373555747 0.00001
NM_001382391.1(CSPP1):c.3109+5G>C rs772586492 0.00001
NM_001382391.1(CSPP1):c.3124A>G (p.Ile1042Val) rs370238037 0.00001
NM_001382391.1(CSPP1):c.3156+16C>A rs773054384 0.00001
NM_001382391.1(CSPP1):c.3163G>C (p.Asp1055His) rs766496985 0.00001
NM_001382391.1(CSPP1):c.3229G>A (p.Gly1077Ser) rs1835967725 0.00001
NM_001382391.1(CSPP1):c.3236C>T (p.Thr1079Ile) rs1368965128 0.00001
NM_001382391.1(CSPP1):c.3258C>T (p.Asp1086=) rs769247285 0.00001
NM_001382391.1(CSPP1):c.3259G>A (p.Val1087Ile) rs778723931 0.00001
NM_001382391.1(CSPP1):c.3298C>T (p.Arg1100Cys) rs758825560 0.00001
NM_001382391.1(CSPP1):c.3340C>T (p.Arg1114Cys) rs537833447 0.00001
NM_001382391.1(CSPP1):c.3355C>A (p.Pro1119Thr) rs1017040124 0.00001
NM_001382391.1(CSPP1):c.3361G>A (p.Gly1121Ser) rs1158377033 0.00001
NM_001382391.1(CSPP1):c.3382T>C (p.Ser1128Pro) rs766061975 0.00001
NM_001382391.1(CSPP1):c.3479G>C (p.Ser1160Thr) rs1170601676 0.00001
NM_001382391.1(CSPP1):c.3520G>C (p.Asp1174His) rs752140903 0.00001
NM_001382391.1(CSPP1):c.3560G>A (p.Arg1187His) rs748165041 0.00001
NM_001382391.1(CSPP1):c.3587G>A (p.Arg1196His) rs1241589485 0.00001
NM_001382391.1(CSPP1):c.3619C>T (p.Gln1207Ter) rs936435444 0.00001
NM_001382391.1(CSPP1):c.3653G>C (p.Trp1218Ser) rs377160929 0.00001
NM_001382391.1(CSPP1):c.3672A>C (p.Ala1224=) rs1040715506 0.00001
NC_000008.10:g.(?_68024187)_(68107848_?)dup
NC_000008.11:g.(?_67111972)_(67218138_?)dup
NC_000008.11:g.67195383TGA[3] rs772729206
NM_001382391.1(CSPP1):c.*3_*6dup (p.Ter1227=) rs764952763
NM_001382391.1(CSPP1):c.2969-19A>G
NM_001382391.1(CSPP1):c.2969-8T>A
NM_001382391.1(CSPP1):c.3011C>T (p.Pro1004Leu) rs993509179
NM_001382391.1(CSPP1):c.3015A>C (p.Pro1005=) rs1831352053
NM_001382391.1(CSPP1):c.3029C>T (p.Thr1010Ile) rs750443075
NM_001382391.1(CSPP1):c.3040C>A (p.Gln1014Lys) rs374717800
NM_001382391.1(CSPP1):c.3040C>G (p.Gln1014Glu) rs374717800
NM_001382391.1(CSPP1):c.3050C>T (p.Ala1017Val) rs1831355993
NM_001382391.1(CSPP1):c.3072G>C (p.Lys1024Asn)
NM_001382391.1(CSPP1):c.3105C>T (p.Ala1035=)
NM_001382391.1(CSPP1):c.3109+4dup rs2129568589
NM_001382391.1(CSPP1):c.3110-1G>A rs1064795687
NM_001382391.1(CSPP1):c.3110-7A>G rs1832018947
NM_001382391.1(CSPP1):c.3126C>T (p.Ile1042=)
NM_001382391.1(CSPP1):c.3135T>C (p.Ala1045=)
NM_001382391.1(CSPP1):c.3141A>G (p.Val1047=)
NM_001382391.1(CSPP1):c.3142C>T (p.Arg1048Ter) rs200881715
NM_001382391.1(CSPP1):c.3143G>A (p.Arg1048Gln)
NM_001382391.1(CSPP1):c.3155T>C (p.Met1052Thr)
NM_001382391.1(CSPP1):c.3157-19del rs1446937196
NM_001382391.1(CSPP1):c.3166G>A (p.Asp1056Asn)
NM_001382391.1(CSPP1):c.3168C>T (p.Asp1056=)
NM_001382391.1(CSPP1):c.3170C>A (p.Thr1057Asn)
NM_001382391.1(CSPP1):c.3213T>C (p.Ala1071=)
NM_001382391.1(CSPP1):c.3220+13_3220+16del
NM_001382391.1(CSPP1):c.3220+1G>A rs773954226
NM_001382391.1(CSPP1):c.3220+7A>G
NM_001382391.1(CSPP1):c.3220+8T>C
NM_001382391.1(CSPP1):c.3221-10G>A
NM_001382391.1(CSPP1):c.3221-1G>A
NM_001382391.1(CSPP1):c.3221-5C>T
NM_001382391.1(CSPP1):c.3221-9T>A rs753184305
NM_001382391.1(CSPP1):c.3222G>T (p.Gly1074=)
NM_001382391.1(CSPP1):c.3227dup (p.Tyr1076Ter) rs587777141
NM_001382391.1(CSPP1):c.3228C>T (p.Tyr1076=) rs1442543547
NM_001382391.1(CSPP1):c.3232G>C (p.Glu1078Gln)
NM_001382391.1(CSPP1):c.3253G>A (p.Asp1085Asn)
NM_001382391.1(CSPP1):c.3254A>G (p.Asp1085Gly)
NM_001382391.1(CSPP1):c.3266del (p.Pro1089fs)
NM_001382391.1(CSPP1):c.3273A>G (p.Pro1091=)
NM_001382391.1(CSPP1):c.3283C>A (p.Pro1095Thr)
NM_001382391.1(CSPP1):c.3288T>C (p.Ser1096=) rs2129575182
NM_001382391.1(CSPP1):c.3289G>A (p.Ala1097Thr)
NM_001382391.1(CSPP1):c.3289G>T (p.Ala1097Ser) rs774501418
NM_001382391.1(CSPP1):c.3293G>A (p.Arg1098Gln)
NM_001382391.1(CSPP1):c.3328A>T (p.Ile1110Phe) rs754193806
NM_001382391.1(CSPP1):c.3330+13C>A
NM_001382391.1(CSPP1):c.3330+13C>T
NM_001382391.1(CSPP1):c.3330+17del
NM_001382391.1(CSPP1):c.3330+19T>A
NM_001382391.1(CSPP1):c.3330+1G>C rs1045070965
NM_001382391.1(CSPP1):c.3330+20C>T
NM_001382391.1(CSPP1):c.3330+2T>C
NM_001382391.1(CSPP1):c.3331-10C>T rs774609234
NM_001382391.1(CSPP1):c.3331-2A>G rs1836992042
NM_001382391.1(CSPP1):c.3331-7A>C rs2129575934
NM_001382391.1(CSPP1):c.3331-8A>G
NM_001382391.1(CSPP1):c.3341G>A (p.Arg1114His) rs775362535
NM_001382391.1(CSPP1):c.3354A>G (p.Ala1118=)
NM_001382391.1(CSPP1):c.3366C>T (p.Leu1122=)
NM_001382391.1(CSPP1):c.3368_3371del (p.Leu1122_Ser1123insTer) rs1206214608
NM_001382391.1(CSPP1):c.3387T>C (p.Ser1129=) rs2129575946
NM_001382391.1(CSPP1):c.3395T>C (p.Val1132Ala)
NM_001382391.1(CSPP1):c.3395_3397del (p.Val1132del) rs749558548
NM_001382391.1(CSPP1):c.3398A>C (p.Asp1133Ala)
NM_001382391.1(CSPP1):c.3399T>A (p.Asp1133Glu)
NM_001382391.1(CSPP1):c.3400G>A (p.Glu1134Lys)
NM_001382391.1(CSPP1):c.3404T>G (p.Leu1135Arg) rs546683385
NM_001382391.1(CSPP1):c.3405_3406del (p.Arg1136fs) rs2129575958
NM_001382391.1(CSPP1):c.3406_3407insTATA (p.Arg1136delinsIleTer) rs1175214174
NM_001382391.1(CSPP1):c.3415A>G (p.Asn1139Asp) rs1837019445
NM_001382391.1(CSPP1):c.3420G>A (p.Glu1140=) rs747965774
NM_001382391.1(CSPP1):c.3428T>C (p.Met1143Thr) rs2129575962
NM_001382391.1(CSPP1):c.3435A>G (p.Arg1145=) rs2129575969
NM_001382391.1(CSPP1):c.3437T>C (p.Leu1146Pro)
NM_001382391.1(CSPP1):c.3438G>C (p.Leu1146=)
NM_001382391.1(CSPP1):c.3439A>C (p.Asn1147His)
NM_001382391.1(CSPP1):c.3452A>G (p.Asn1151Ser) rs569956227
NM_001382391.1(CSPP1):c.3454A>G (p.Lys1152Glu)
NM_001382391.1(CSPP1):c.3455A>G (p.Lys1152Arg) rs2129575980
NM_001382391.1(CSPP1):c.3469+10C>T
NM_001382391.1(CSPP1):c.3470-12T>C
NM_001382391.1(CSPP1):c.3470-16C>T
NM_001382391.1(CSPP1):c.3470-20G>A
NM_001382391.1(CSPP1):c.3470-4G>A
NM_001382391.1(CSPP1):c.3472dup (p.Asp1158fs) rs760082779
NM_001382391.1(CSPP1):c.3477_3479dup (p.Glu1159_Ser1160insArg)
NM_001382391.1(CSPP1):c.3478A>C (p.Ser1160Arg)
NM_001382391.1(CSPP1):c.3478_3479del (p.Ser1160fs) rs2129576630
NM_001382391.1(CSPP1):c.3487G>A (p.Val1163Ile) rs1414800888
NM_001382391.1(CSPP1):c.3496G>C (p.Asp1166His) rs1837730212
NM_001382391.1(CSPP1):c.3509_3512dup (p.His1171fs) rs776145236
NM_001382391.1(CSPP1):c.3510A>G (p.Lys1170=)
NM_001382391.1(CSPP1):c.3518G>C (p.Gly1173Ala) rs1837735009
NM_001382391.1(CSPP1):c.3525C>A (p.Asp1175Glu)
NM_001382391.1(CSPP1):c.3525C>T (p.Asp1175=)
NM_001382391.1(CSPP1):c.3528A>C (p.Gly1176=) rs2129576649
NM_001382391.1(CSPP1):c.3533_3536dup (p.Val1180fs) rs1563816165
NM_001382391.1(CSPP1):c.3563C>T (p.Pro1188Leu)
NM_001382391.1(CSPP1):c.3569C>T (p.Thr1190Ile)
NM_001382391.1(CSPP1):c.3576A>G (p.Glu1192=) rs760969187
NM_001382391.1(CSPP1):c.3580C>T (p.Leu1194=)
NM_001382391.1(CSPP1):c.3585dup (p.Arg1196fs)
NM_001382391.1(CSPP1):c.3588T>C (p.Arg1196=) rs2129576668
NM_001382391.1(CSPP1):c.3598G>A (p.Glu1200Lys)
NM_001382391.1(CSPP1):c.3603G>C (p.Gln1201His) rs1837760146
NM_001382391.1(CSPP1):c.3606G>C (p.Leu1202=)
NM_001382391.1(CSPP1):c.3620A>G (p.Gln1207Arg) rs1026132903
NM_001382391.1(CSPP1):c.3622C>T (p.Gln1208Ter)
NM_001382391.1(CSPP1):c.3639A>G (p.Pro1213=)
NM_001382391.1(CSPP1):c.3640G>T (p.Gly1214Cys)
NM_001382391.1(CSPP1):c.3641G>A (p.Gly1214Asp)
NM_001382391.1(CSPP1):c.3652T>C (p.Trp1218Arg)
NM_001382391.1(CSPP1):c.3652_3662del (p.Trp1218fs)
NM_001382391.1(CSPP1):c.3660C>A (p.Gly1220=)
NM_001382391.1(CSPP1):c.3660C>T (p.Gly1220=)
NM_001382391.1(CSPP1):c.3661C>T (p.Leu1221=) rs2129576686
NM_001382391.1(CSPP1):c.3662T>C (p.Leu1221Pro)

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