ClinVar Miner

List of variants in gene KIFBP reported as pathogenic for digestive system disorder

Included ClinVar conditions (605):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_015634.4(KIFBP):c.599C>A (p.Ser200Ter) rs730882150 0.00006
NM_015634.4(KIFBP):c.1535C>G (p.Ser512Ter) rs757081898 0.00001
NC_000010.11:g.(68989259_69000424)_(69005125_69005731)del
NM_015634.4(KIFBP):c.1176_1177del (p.Glu394fs) rs2132119741
NM_015634.4(KIFBP):c.250G>T (p.Glu84Ter) rs121434515
NM_015634.4(KIFBP):c.268C>T (p.Arg90Ter) rs121434514
NM_015634.4(KIFBP):c.605_606del (p.Arg202fs) rs730882151
NM_015634.4(KIFBP):c.976C>T (p.Gln326Ter) rs1293340864

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