ClinVar Miner

List of variants in gene KIF5C reported as uncertain significance for complex cortical dysplasia with other brain malformations 2

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_004522.3(KIF5C):c.1700C>T (p.Thr567Ile) rs1297108227 0.00001
NM_004522.3(KIF5C):c.1187C>A (p.Thr396Asn)
NM_004522.3(KIF5C):c.1190C>G (p.Pro397Arg) rs1574802637
NM_004522.3(KIF5C):c.1358A>G (p.Asp453Gly)
NM_004522.3(KIF5C):c.1454A>C (p.Lys485Thr) rs2105159248
NM_004522.3(KIF5C):c.1716+9G>A rs1681300053
NM_004522.3(KIF5C):c.1864A>G (p.Ser622Gly) rs1574818948
NM_004522.3(KIF5C):c.2230C>G (p.Leu744Val)
NM_004522.3(KIF5C):c.2618C>T (p.Ala873Val)
NM_004522.3(KIF5C):c.2640G>C (p.Glu880Asp)
NM_004522.3(KIF5C):c.2672T>C (p.Met891Thr)
NM_004522.3(KIF5C):c.571C>T (p.Arg191Ter)
NM_004522.3(KIF5C):c.610A>G (p.Arg204Gly)
NM_004522.3(KIF5C):c.952C>A (p.Leu318Met) rs2105113901

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