ClinVar Miner

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

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP
NM_001142386.3(PDK3):c.1149G>A (p.Thr383=) rs768286680
NM_001142386.3(PDK3):c.376A>G (p.Met126Val) rs138321172
NM_001142386.3(PDK3):c.51G>C (p.Glu17Asp) rs371137355
NM_001142386.3(PDK3):c.750+5G>A rs187646579
NM_005391.4(PDK3):c.1077+8G>A rs370736936
NM_005391.4(PDK3):c.282T>C (p.Tyr94=) rs201198782
NM_005391.4(PDK3):c.341A>C (p.Lys114Thr) rs146331370
NM_005391.5(PDK3):c.204G>A (p.Pro68=)
NM_005391.5(PDK3):c.36G>A (p.Val12=)
NM_005391.5(PDK3):c.523G>A (p.Asp175Asn)
NM_005391.5(PDK3):c.674-3C>T

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