ClinVar Miner

List of variants in gene AHI1, LOC128669075 studied for Joubert syndrome

Included ClinVar conditions (97):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001134831.2(AHI1):c.3166-14T>G rs367887235 0.00003
NM_001134831.2(AHI1):c.3166-5C>G rs1270534925 0.00001
NM_001134831.2(AHI1):c.3166-12T>A rs1222788314
NM_001134831.2(AHI1):c.3166-13A>C rs2483268383
NM_001134831.2(AHI1):c.3166-16C>G rs2483268440
NM_001134831.2(AHI1):c.3166-17T>A rs2483268465
NM_001134831.2(AHI1):c.3166-7C>G
NM_001134831.2(AHI1):c.3166-7C>T rs1267849099
NM_001134831.2(AHI1):c.3166-9C>T rs1787165491

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