ClinVar Miner

List of variants in gene GANAB reported as pathogenic for cystic kidney disease

Included ClinVar conditions (50):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_198334.3(GANAB):c.11_16del (p.Val4_Ala5del) rs750723025
NM_198334.3(GANAB):c.152_153del (p.Arg51fs) rs752158933
NM_198334.3(GANAB):c.1848_1849del (p.Asp618fs) rs879255641
NM_198334.3(GANAB):c.1936+1del
NM_198334.3(GANAB):c.224C>T (p.Thr75Met)
NM_198334.3(GANAB):c.2516C>T (p.Thr839Ile)

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