ClinVar Miner

List of variants in gene MKKS reported as pathogenic for Bardet-Biedl syndrome 6

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_170784.3(MKKS):c.110A>G (p.Tyr37Cys) rs74315396 0.00011
NM_170784.3(MKKS):c.830T>C (p.Leu277Pro) rs74315398 0.00006
NM_170784.3(MKKS):c.1436C>G (p.Ser479Ter) rs753180214 0.00001
NM_170784.3(MKKS):c.155G>A (p.Gly52Asp) rs28937875 0.00001
NM_170784.3(MKKS):c.169A>G (p.Thr57Ala) rs74315399 0.00001
NM_170784.3(MKKS):c.380del (p.Cys127fs) rs867346158 0.00001
NM_170784.3(MKKS):c.837del (p.Gly280fs) rs776004321 0.00001
NM_170784.3(MKKS):c.890T>C (p.Ile297Thr) rs147704542 0.00001
NM_170784.3(MKKS):c.-41_985+60del
NM_170784.3(MKKS):c.116C>T (p.Pro39Leu) rs1270369106
NM_170784.3(MKKS):c.281del (p.Phe94fs) rs587777827
NM_170784.3(MKKS):c.429_434delinsTT (p.Phe144fs) rs2122235362
NM_170784.3(MKKS):c.613A>T (p.Lys205Ter) rs1555802009
NM_170784.3(MKKS):c.775del (p.Thr259fs) rs759131391
NM_170784.3(MKKS):c.792T>A (p.Tyr264Ter) rs74315397
NM_170784.3(MKKS):c.792T>G (p.Tyr264Ter) rs74315397

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