ClinVar Miner

List of variants in gene PDK3 reported as benign for Charcot-Marie-Tooth disease X-linked dominant 6

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Total variants: 24
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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.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.341A>C (p.Lys114Thr) rs146331370 0.00009
NM_005391.5(PDK3):c.506-6G>A rs376450754 0.00005
NM_005391.5(PDK3):c.204G>A (p.Pro68=) rs201536570 0.00003
NM_005391.5(PDK3):c.1077+8G>A rs370736936 0.00002
NM_005391.5(PDK3):c.1149G>A (p.Thr383=) rs768286680 0.00002
NM_005391.5(PDK3):c.674-3C>T rs777647536 0.00002
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.671A>G (p.Asn224Ser) rs200598034 0.00001
NM_005391.5(PDK3):c.1045G>A (p.Gly349Arg)
NM_005391.5(PDK3):c.1077+12del rs1922655377
NM_005391.5(PDK3):c.1077+13A>T
NM_005391.5(PDK3):c.249-9del rs374771377
NM_005391.5(PDK3):c.249-9dup rs374771377
NM_005391.5(PDK3):c.42G>C (p.Lys14Asn)
NM_005391.5(PDK3):c.567C>T (p.Pro189=)
NM_005391.5(PDK3):c.681G>A (p.Ala227=)

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