ClinVar Miner

List of variants in gene MKS1 reported as 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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HGVS dbSNP
NM_001165927.1(MKS1):c.*414C>T rs2302313
NM_001165927.1(MKS1):c.*75C>T rs35184412
NM_001165927.1(MKS1):c.1243+11G>A rs16942826
NM_001165927.1(MKS1):c.1406G>A (p.Arg469His) rs111315726
NM_001165927.1(MKS1):c.1641G>C (p.Leu547=) rs11548967
NM_001165927.1(MKS1):c.50+214C>G rs116514023
NM_001165927.1(MKS1):c.828+9A>G rs3826300
NM_017777.4(MKS1):c.*472C>G

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