ClinVar Miner

List of variants in gene PDK3 reported as likely benign 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: 54
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HGVS dbSNP gnomAD frequency
NM_001142386.3(PDK3):c.1228A>C (p.Lys410Gln) rs141326782 0.01437
NM_005391.5(PDK3):c.304C>T (p.Pro102Ser) rs375475050 0.00015
NM_005391.5(PDK3):c.336G>C (p.Leu112=) rs372442017 0.00009
NM_005391.5(PDK3):c.751-10A>G rs372774822 0.00009
NM_005391.5(PDK3):c.486C>T (p.Arg162=) rs1479754596 0.00005
NM_005391.5(PDK3):c.231G>T (p.Val77=) rs769270588 0.00004
NM_005391.5(PDK3):c.1137T>C (p.His379=) rs201109489 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.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.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.198T>C (p.Leu66=) rs780465553 0.00001
NM_005391.5(PDK3):c.321-8T>A rs773363870 0.00001
NM_005391.5(PDK3):c.506-7C>T rs1195638386 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.798C>A (p.Gly266=) rs1250656724 0.00001
NM_005391.5(PDK3):c.*5C>T
NM_005391.5(PDK3):c.*7A>G
NM_005391.5(PDK3):c.1032G>A (p.Leu344=)
NM_005391.5(PDK3):c.1032_1033del (p.Tyr345fs)
NM_005391.5(PDK3):c.106+11G>A
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+13_1077+16del rs1046476039
NM_005391.5(PDK3):c.1077+7C>A rs1254633549
NM_005391.5(PDK3):c.1078-3_1078-2dup rs2148204260
NM_005391.5(PDK3):c.1161T>C (p.Asp387=) rs2148204324
NM_005391.5(PDK3):c.138T>C (p.Tyr46=)
NM_005391.5(PDK3):c.180A>G (p.Thr60=)
NM_005391.5(PDK3):c.249-15T>C
NM_005391.5(PDK3):c.249-8C>T rs1231289510
NM_005391.5(PDK3):c.321-11C>T
NM_005391.5(PDK3):c.327A>G (p.Leu109=) rs187938221
NM_005391.5(PDK3):c.402G>A (p.Lys134=)
NM_005391.5(PDK3):c.595+20G>A rs2148192422
NM_005391.5(PDK3):c.674-18T>C
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.852+18A>G
NM_005391.5(PDK3):c.853-4G>A
NM_005391.5(PDK3):c.963+14A>C rs2148201960

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