ClinVar Miner

List of variants in gene PDK3 studied for Charcot-Marie-Tooth disease, X-linked dominant, 6

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Total variants: 33
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HGVS dbSNP
NC_000023.10:g.(?_24483553)_(24557301_?)dup
NC_000023.11:g.(?_24465436)_(24465581_?)del
NC_000023.11:g.(?_24494722)_(24539184_?)del
NM_001142386.3(PDK3):c.1077+8G>A rs370736936
NM_001142386.3(PDK3):c.1083T>C (p.Leu361=) rs746261967
NM_001142386.3(PDK3):c.1126G>A (p.Ala376Thr) rs781166988
NM_001142386.3(PDK3):c.1228A>C (p.Lys410Gln) rs141326782
NM_001142386.3(PDK3):c.160C>T (p.Pro54Ser) rs1569221445
NM_001142386.3(PDK3):c.249-8C>T rs1231289510
NM_001142386.3(PDK3):c.282T>C (p.Tyr94=) rs201198782
NM_001142386.3(PDK3):c.320+6T>C rs748960946
NM_001142386.3(PDK3):c.336G>C (p.Leu112=) rs372442017
NM_001142386.3(PDK3):c.341A>C (p.Lys114Thr) rs146331370
NM_001142386.3(PDK3):c.376A>G (p.Met126Val) rs138321172
NM_001142386.3(PDK3):c.473G>A (p.Arg158His) rs397515323
NM_001142386.3(PDK3):c.474C>T (p.Arg158=) rs756879455
NM_001142386.3(PDK3):c.485G>A (p.Arg162His) rs867468579
NM_001142386.3(PDK3):c.486C>T (p.Arg162=) rs1479754596
NM_001142386.3(PDK3):c.51G>C (p.Glu17Asp) rs371137355
NM_001142386.3(PDK3):c.562G>A (p.Asp188Asn) rs1165981822
NM_001142386.3(PDK3):c.582G>A (p.Ala194=) rs144345856
NM_001142386.3(PDK3):c.608C>G (p.Thr203Arg) rs1555949588
NM_001142386.3(PDK3):c.751-10A>G rs372774822
NM_001142386.3(PDK3):c.811A>G (p.Lys271Glu) rs1569227273
NM_005391.4(PDK3):c.1087dup (p.Ser363fs) rs1569228214
NM_005391.4(PDK3):c.597del (p.Asp199fs) rs1569225940
NM_005391.5(PDK3):c.1097T>G (p.Phe366Cys)
NM_005391.5(PDK3):c.1106T>C (p.Leu369Pro)
NM_005391.5(PDK3):c.13C>T (p.Arg5Trp)
NM_005391.5(PDK3):c.149G>A (p.Arg50Gln)
NM_005391.5(PDK3):c.422C>T (p.Pro141Leu)
NM_005391.5(PDK3):c.692C>G (p.Pro231Arg)
NM_005391.5(PDK3):c.940G>T (p.Glu314Ter)

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