ClinVar Miner

List of variants in gene MKKS studied for Bardet-Biedl syndrome

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Total variants: 17
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NM_018848.3(MKKS):c.-417-20dup rs528193828
NM_018848.3(MKKS):c.-74G>A rs113994194
NM_018848.3(MKKS):c.-781del rs566962031
NM_018848.3(MKKS):c.-871_-869dup rs143825746
NM_018848.3(MKKS):c.117C>T (p.Pro39=) rs16991547
NM_018848.3(MKKS):c.1235G>T (p.Cys412Phe) rs1396840386
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.534C>T (p.Ile178=) rs17852625
NM_018848.3(MKKS):c.792T>G (p.Tyr264Ter) rs74315397
NM_018848.3(MKKS):c.837del (p.Gly280fs) rs776004321
NM_018848.3(MKKS):c.873_876dup (p.Cys293fs) rs113994196
NM_018848.3(MKKS):c.890T>C (p.Ile297Thr) rs147704542
NM_170784.2(MKKS):c.-683_-674dup rs16996729

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