ClinVar Miner

List of variants in gene PCLO reported as benign for central nervous system malformation

Included ClinVar conditions (164):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_033026.6(PCLO):c.2441G>C (p.Ser814Thr) rs2877 0.70660
NM_033026.6(PCLO):c.1893+47C>A rs6951239 0.63627
NM_033026.6(PCLO):c.14415+10T>C rs2715150 0.44882
NM_033026.6(PCLO):c.1501T>C (p.Ser501Pro) rs6972461 0.37994
NM_033026.6(PCLO):c.14440T>G (p.Ser4814Ala) rs2522833 0.33644
NM_033026.6(PCLO):c.860A>G (p.Asp287Gly) rs61741659 0.18909
NM_033026.6(PCLO):c.8778_8780dup (p.Asp2926dup) rs10630259

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