ClinVar Miner

List of variants in gene MKKS reported as pathogenic for Bardet-Biedl syndrome

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Total variants: 7
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NM_018848.3(MKKS):c.1239_1242dup (p.Thr415Ter) rs1306231185
NM_018848.3(MKKS):c.1478del (p.Leu493fs) rs1568662687
NM_018848.3(MKKS):c.295T>C (p.Cys99Arg) rs1297985227
NM_018848.3(MKKS):c.431_441del (p.Phe144fs) rs113994195
NM_018848.3(MKKS):c.492T>A (p.Cys164Ter) rs1568666460
NM_018848.3(MKKS):c.792T>G (p.Tyr264Ter) rs74315397
NM_018848.3(MKKS):c.873_876dup (p.Cys293fs) rs113994196

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