ClinVar Miner

List of variants in gene CDC14A reported as pathogenic for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_003672.4(CDC14A):c.376del (p.Tyr126fs) rs759201338 0.00003
NM_003672.4(CDC14A):c.1015C>T (p.Arg339Ter) rs777112652 0.00001
NM_003672.4(CDC14A):c.417C>G (p.Tyr139Ter) rs771622183 0.00001
NM_003672.4(CDC14A):c.1033C>T (p.Arg345Ter) rs549556142
NM_003672.4(CDC14A):c.1126C>T (p.Arg376Ter) rs876661408
NM_003672.4(CDC14A):c.839-3C>G rs1553191001
NM_003672.4(CDC14A):c.934C>G (p.Arg312Gly) rs148737918
NM_003672.4(CDC14A):c.935G>A (p.Arg312Gln) rs369245990

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