ClinVar Miner

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

Included ClinVar conditions (37):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
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NM_018848.3(MKKS):c.-349A>G rs140884406
NM_018848.3(MKKS):c.-649+6T>G rs377246386
NM_018848.3(MKKS):c.-871_-869dup rs143825746
NM_018848.3(MKKS):c.1462G>A (p.Ala488Thr) rs61734546
NM_018848.3(MKKS):c.1553G>A (p.Arg518His) rs149051148
NM_018848.3(MKKS):c.15A>G (p.Glu5=) rs145396188
NM_018848.3(MKKS):c.16G>A (p.Ala6Thr) rs150920905
NM_018848.3(MKKS):c.231G>A (p.Leu77=) rs373913834
NM_018848.3(MKKS):c.67A>G (p.Arg23Gly) rs147545395

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