ClinVar Miner

List of variants in gene MKS1 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: 8
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NM_001165927.1(MKS1):c.1558+12C>G rs762501967
NM_001165927.1(MKS1):c.1570C>A (p.Arg524=) rs772719574
NM_001165927.1(MKS1):c.183C>G (p.Asp61Glu) rs142813109
NM_001165927.1(MKS1):c.50+168T>C rs372127517
NM_001165927.1(MKS1):c.50+325C>G rs761061379
NM_001165927.1(MKS1):c.741G>A (p.Lys247=) rs886038632
NM_001165927.1(MKS1):c.984G>A (p.Leu328=) rs201998680

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