RS111294855 CPLANE1

Health Risk Chr 5:37157381 snv missense variant

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What This Variant Does

"CLNSIG=255

Associated Conditions

Joubert syndrome 17

ClinVar Assertions (1)

NM_001384732.1(CPLANE1):c.8050G>A (p.Ala2684Thr)

· 4 submitters

Population Frequencies

gnomAD ALL

99.7%

1kG AFR

100%

1kG ALL

99.9%

1kG AMR

100%

1kG EAS

100%

1kG EUR

0.3%

1kG SAS

100%

Other Variants in CPLANE1