ClinVar Miner

List of variants in gene MKS1 reported as pathogenic for Bardet-Biedl syndrome

Included ClinVar conditions (37):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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NM_001165927.1(MKS1):c.1082_1084del (p.Phe361del) rs587777804
NM_001165927.1(MKS1):c.1352A>G (p.Tyr451Cys) rs730882120
NM_001165927.1(MKS1):c.1446T>G (p.Cys482Trp) rs137853105
NM_001165927.1(MKS1):c.1571G>A (p.Arg524Gln) rs199910690

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