ClinVar Miner

List of variants in gene PDK3 studied for Charcot-Marie-Tooth disease type X

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 163
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HGVS dbSNP gnomAD frequency
NM_005391.5(PDK3):c.107-7948A>C rs7060702 0.46363
NM_001142386.3(PDK3):c.1228A>C (p.Lys410Gln) rs141326782 0.01437
NM_005391.5(PDK3):c.376A>G (p.Met126Val) rs138321172 0.00115
NM_005391.5(PDK3):c.750+5G>A rs187646579 0.00034
NM_005391.5(PDK3):c.304C>T (p.Pro102Ser) rs375475050 0.00015
NM_005391.5(PDK3):c.36G>A (p.Val12=) rs747337773 0.00013
NM_005391.5(PDK3):c.282T>C (p.Tyr94=) rs201198782 0.00010
NM_005391.5(PDK3):c.674-11T>C rs756028485 0.00010
NM_005391.5(PDK3):c.336G>C (p.Leu112=) rs372442017 0.00009
NM_005391.5(PDK3):c.341A>C (p.Lys114Thr) rs146331370 0.00009
NM_005391.5(PDK3):c.562G>A (p.Asp188Asn) rs1165981822 0.00009
NM_005391.5(PDK3):c.751-10A>G rs372774822 0.00009
NM_005391.5(PDK3):c.422C>T (p.Pro141Leu) rs898354567 0.00006
NM_005391.5(PDK3):c.486C>T (p.Arg162=) rs1479754596 0.00005
NM_005391.5(PDK3):c.506-6G>A rs376450754 0.00005
NM_005391.5(PDK3):c.231G>T (p.Val77=) rs769270588 0.00004
NM_005391.5(PDK3):c.820G>A (p.Val274Ile) rs773597771 0.00004
NM_005391.5(PDK3):c.1137T>C (p.His379=) rs201109489 0.00003
NM_005391.5(PDK3):c.204G>A (p.Pro68=) rs201536570 0.00003
NM_005391.5(PDK3):c.595+12G>A rs372395777 0.00003
NM_005391.5(PDK3):c.596-7C>T rs761112580 0.00003
NM_005391.5(PDK3):c.1077+8G>A rs370736936 0.00002
NM_005391.5(PDK3):c.1126G>A (p.Ala376Thr) rs781166988 0.00002
NM_005391.5(PDK3):c.1149G>A (p.Thr383=) rs768286680 0.00002
NM_005391.5(PDK3):c.1211C>T (p.Ala404Val) rs375862167 0.00002
NM_005391.5(PDK3):c.132T>C (p.Thr44=) rs200045909 0.00002
NM_005391.5(PDK3):c.576C>T (p.Asn192=) rs756934374 0.00002
NM_005391.5(PDK3):c.582G>A (p.Ala194=) rs144345856 0.00002
NM_005391.5(PDK3):c.673+10A>G rs750141483 0.00002
NM_005391.5(PDK3):c.674-3C>T rs777647536 0.00002
NM_005391.5(PDK3):c.687C>T (p.Asp229=) rs747154414 0.00002
NM_005391.5(PDK3):c.765G>A (p.Ala255=) rs1277836754 0.00002
NM_005391.5(PDK3):c.995G>A (p.Arg332His) rs368054026 0.00002
NM_005391.5(PDK3):c.106+18G>A rs1044602433 0.00001
NM_005391.5(PDK3):c.1083T>C (p.Leu361=) rs746261967 0.00001
NM_005391.5(PDK3):c.1125C>T (p.Ser375=) rs772546760 0.00001
NM_005391.5(PDK3):c.1148C>T (p.Thr383Met) rs1442646183 0.00001
NM_005391.5(PDK3):c.1205A>G (p.Tyr402Cys) rs762702094 0.00001
NM_005391.5(PDK3):c.149G>A (p.Arg50Gln) rs757407648 0.00001
NM_005391.5(PDK3):c.160C>T (p.Pro54Ser) rs1569221445 0.00001
NM_005391.5(PDK3):c.198T>C (p.Leu66=) rs780465553 0.00001
NM_005391.5(PDK3):c.203C>T (p.Pro68Leu) rs373610926 0.00001
NM_005391.5(PDK3):c.320+6T>C rs748960946 0.00001
NM_005391.5(PDK3):c.321-8T>A rs773363870 0.00001
NM_005391.5(PDK3):c.338T>C (p.Ile113Thr) rs1569223291 0.00001
NM_005391.5(PDK3):c.427A>G (p.Ile143Val) rs1057438680 0.00001
NM_005391.5(PDK3):c.474C>T (p.Arg158=) rs756879455 0.00001
NM_005391.5(PDK3):c.506-7C>T rs1195638386 0.00001
NM_005391.5(PDK3):c.51G>C (p.Glu17Asp) rs371137355 0.00001
NM_005391.5(PDK3):c.523G>A (p.Asp175Asn) rs149603823 0.00001
NM_005391.5(PDK3):c.577G>A (p.Val193Met) rs764909872 0.00001
NM_005391.5(PDK3):c.595+3A>G rs1227104182 0.00001
NM_005391.5(PDK3):c.596-4G>A rs1376497125 0.00001
NM_005391.5(PDK3):c.609A>T (p.Thr203=) rs1328563499 0.00001
NM_005391.5(PDK3):c.671A>G (p.Asn224Ser) rs200598034 0.00001
NM_005391.5(PDK3):c.692C>G (p.Pro231Arg) rs1051776582 0.00001
NM_005391.5(PDK3):c.798C>A (p.Gly266=) rs1250656724 0.00001
NM_005391.5(PDK3):c.811A>G (p.Lys271Glu) rs1569227273 0.00001
NM_005391.5(PDK3):c.883C>A (p.Arg295=) rs868382375 0.00001
NC_000023.10:g.(?_24483563)_(24557291_?)dup
NC_000023.10:g.(?_24483573)_(24483698_?)del
NC_000023.10:g.(?_24483573)_(24557281_?)del
NC_000023.10:g.(?_24512839)_(24557281_?)dup
NC_000023.10:g.(?_24512849)_(24537137_?)dup
NC_000023.10:g.(?_24537030)_(24537147_?)del
NC_000023.10:g.(?_24544295)_(24557281_?)dup
NC_000023.10:g.(?_24549754)_(24549907_?)del
NC_000023.11:g.(?_24465436)_(24465581_?)del
NM_001142386.3(PDK3):c.1218A>G (p.Gln406=)
NM_001142386.3(PDK3):c.1226T>C (p.Ile409Thr)
NM_005391.5(PDK3):c.*5C>T
NM_005391.5(PDK3):c.*7A>G
NM_005391.5(PDK3):c.1028A>C (p.Lys343Thr) rs2148203320
NM_005391.5(PDK3):c.1032G>A (p.Leu344=)
NM_005391.5(PDK3):c.1032_1033del (p.Tyr345fs)
NM_005391.5(PDK3):c.1045G>A (p.Gly349Arg)
NM_005391.5(PDK3):c.106+11G>A
NM_005391.5(PDK3):c.106+14_106+15dup rs1940055207
NM_005391.5(PDK3):c.106+18G>C
NM_005391.5(PDK3):c.1065C>G (p.Val355=)
NM_005391.5(PDK3):c.1065C>T (p.Val355=) rs771588514
NM_005391.5(PDK3):c.1077+12del rs1922655377
NM_005391.5(PDK3):c.1077+13A>T
NM_005391.5(PDK3):c.1077+13_1077+16del rs1046476039
NM_005391.5(PDK3):c.1077+2T>G
NM_005391.5(PDK3):c.1077+7C>A rs1254633549
NM_005391.5(PDK3):c.1078-3_1078-2dup rs2148204260
NM_005391.5(PDK3):c.1079C>T (p.Ala360Val) rs1569228203
NM_005391.5(PDK3):c.1087dup (p.Ser363fs) rs1569228214
NM_005391.5(PDK3):c.1097T>G (p.Phe366Cys) rs1922715042
NM_005391.5(PDK3):c.1106T>C (p.Leu369Pro) rs1922715462
NM_005391.5(PDK3):c.1159G>A (p.Asp387Asn)
NM_005391.5(PDK3):c.1161T>C (p.Asp387=) rs2148204324
NM_005391.5(PDK3):c.1187C>T (p.Pro396Leu) rs761831322
NM_005391.5(PDK3):c.1193A>G (p.Asp398Gly)
NM_005391.5(PDK3):c.1202A>G (p.Lys401Arg) rs371788046
NM_005391.5(PDK3):c.1213A>G (p.Lys405Glu)
NM_005391.5(PDK3):c.1217del (p.Gln406fs)
NM_005391.5(PDK3):c.1218dup (p.Ter407ValextTer?) rs2148204361
NM_005391.5(PDK3):c.132_134del (p.Ser45del)
NM_005391.5(PDK3):c.137A>G (p.Tyr46Cys) rs2148188298
NM_005391.5(PDK3):c.138T>C (p.Tyr46=)
NM_005391.5(PDK3):c.13C>T (p.Arg5Trp) rs1940054079
NM_005391.5(PDK3):c.149_158dup (p.Pro54fs)
NM_005391.5(PDK3):c.180A>G (p.Thr60=)
NM_005391.5(PDK3):c.18G>C (p.Trp6Cys) rs2148176546
NM_005391.5(PDK3):c.217_226del (p.Asn73fs)
NM_005391.5(PDK3):c.220C>T (p.Arg74Cys)
NM_005391.5(PDK3):c.221G>A (p.Arg74His)
NM_005391.5(PDK3):c.223C>A (p.Pro75Thr) rs2148188335
NM_005391.5(PDK3):c.23T>C (p.Leu8Pro)
NM_005391.5(PDK3):c.248+3A>G
NM_005391.5(PDK3):c.249-15T>C
NM_005391.5(PDK3):c.249-8C>T rs1231289510
NM_005391.5(PDK3):c.249-9del rs374771377
NM_005391.5(PDK3):c.249-9dup rs374771377
NM_005391.5(PDK3):c.293G>A (p.Ser98Asn)
NM_005391.5(PDK3):c.302A>G (p.Asp101Gly)
NM_005391.5(PDK3):c.308A>G (p.Gln103Arg) rs2148190126
NM_005391.5(PDK3):c.316G>A (p.Asp106Asn)
NM_005391.5(PDK3):c.321-11C>T
NM_005391.5(PDK3):c.321-3C>T
NM_005391.5(PDK3):c.327A>G (p.Leu109=) rs187938221
NM_005391.5(PDK3):c.335T>C (p.Leu112Pro) rs2148191720
NM_005391.5(PDK3):c.340A>G (p.Lys114Glu)
NM_005391.5(PDK3):c.355C>T (p.His119Tyr)
NM_005391.5(PDK3):c.382C>A (p.Gln128Lys)
NM_005391.5(PDK3):c.382C>G (p.Gln128Glu)
NM_005391.5(PDK3):c.392T>C (p.Ile131Thr)
NM_005391.5(PDK3):c.402G>A (p.Lys134=)
NM_005391.5(PDK3):c.42G>C (p.Lys14Asn)
NM_005391.5(PDK3):c.434C>G (p.Thr145Ser)
NM_005391.5(PDK3):c.472C>G (p.Arg158Gly)
NM_005391.5(PDK3):c.473G>A (p.Arg158His) rs397515323
NM_005391.5(PDK3):c.485G>A (p.Arg162His) rs867468579
NM_005391.5(PDK3):c.49G>C (p.Glu17Gln) rs2148176569
NM_005391.5(PDK3):c.505+3A>T rs1921912997
NM_005391.5(PDK3):c.521del (p.Gly174fs)
NM_005391.5(PDK3):c.567C>T (p.Pro189=)
NM_005391.5(PDK3):c.577G>C (p.Val193Leu) rs764909872
NM_005391.5(PDK3):c.595+20G>A rs2148192422
NM_005391.5(PDK3):c.596A>G (p.Asp199Gly)
NM_005391.5(PDK3):c.597del (p.Asp199fs) rs1569225940
NM_005391.5(PDK3):c.608C>G (p.Thr203Arg) rs1555949588
NM_005391.5(PDK3):c.674-18T>C
NM_005391.5(PDK3):c.674-5T>G rs2148201118
NM_005391.5(PDK3):c.681G>A (p.Ala227=)
NM_005391.5(PDK3):c.695T>C (p.Ile232Thr)
NM_005391.5(PDK3):c.707A>G (p.Tyr236Cys) rs2148201163
NM_005391.5(PDK3):c.750+18A>G
NM_005391.5(PDK3):c.750+20C>T
NM_005391.5(PDK3):c.751-13C>A
NM_005391.5(PDK3):c.780T>C (p.Tyr260=)
NM_005391.5(PDK3):c.816C>A (p.Thr272=) rs1393564034
NM_005391.5(PDK3):c.836A>G (p.Glu279Gly) rs2148201759
NM_005391.5(PDK3):c.852+18A>G
NM_005391.5(PDK3):c.853-4G>A
NM_005391.5(PDK3):c.86T>A (p.Ile29Asn)
NM_005391.5(PDK3):c.895C>T (p.Arg299Cys)
NM_005391.5(PDK3):c.896G>A (p.Arg299His)
NM_005391.5(PDK3):c.940G>T (p.Glu314Ter) rs1922567942
NM_005391.5(PDK3):c.963+14A>C rs2148201960
NM_005391.5(PDK3):c.974G>T (p.Gly325Val)

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