ClinVar Miner

List of variants in gene PDK3 reported as likely benign for auditory system disease

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP
NM_001142386.3(PDK3):c.1077+7C>A rs1254633549
NM_001142386.3(PDK3):c.1083T>C (p.Leu361=) rs746261967
NM_001142386.3(PDK3):c.1228A>C (p.Lys410Gln) rs141326782
NM_001142386.3(PDK3):c.198T>C (p.Leu66=) rs780465553
NM_001142386.3(PDK3):c.249-8C>T rs1231289510
NM_001142386.3(PDK3):c.596-7C>T rs761112580
NM_005391.4(PDK3):c.336G>C (p.Leu112=) rs372442017
NM_005391.4(PDK3):c.751-10A>G rs372774822
NM_005391.5(PDK3):c.1077+13_1077+16del
NM_005391.5(PDK3):c.1078-3_1078-2dup
NM_005391.5(PDK3):c.1125C>T (p.Ser375=)
NM_005391.5(PDK3):c.1161T>C (p.Asp387=)
NM_005391.5(PDK3):c.231G>T (p.Val77=)
NM_005391.5(PDK3):c.321-8T>A
NM_005391.5(PDK3):c.327A>G (p.Leu109=)
NM_005391.5(PDK3):c.506-7C>T
NM_005391.5(PDK3):c.673+10A>G
NM_005391.5(PDK3):c.687C>T (p.Asp229=)
NM_005391.5(PDK3):c.816C>A (p.Thr272=)
NM_005391.5(PDK3):c.995G>A (p.Arg332His)

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