ClinVar Miner

List of variants in gene GANAB reported as pathogenic for abdominal and pelvic region disorder

Included ClinVar conditions (956):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_198334.3(GANAB):c.11_16del (p.Val4_Ala5del) rs750723025
NM_198334.3(GANAB):c.1769G>C (p.Arg590Pro) rs1465649718
NM_198334.3(GANAB):c.1848_1849del (p.Asp618fs) rs879255641
NM_198334.3(GANAB):c.1936+1G>C rs1565092899
NM_198334.3(GANAB):c.2443C>T (p.Arg815Ter) rs1565088616
NM_198334.3(GANAB):c.2590C>T (p.Arg864Ter) rs1210158408
NM_198334.3(GANAB):c.621del (p.Asp207fs) rs1565099895

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