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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_017777.4(MKS1):c.813C>T (p.His271=)	rs201961765	0.00003
NM_017777.4(MKS1):c.214G>A (p.Glu72Lys)	rs753620277	0.00001
NM_017777.4(MKS1):c.1505C>G (p.Ser502Trp)	rs758838271
NM_017777.4(MKS1):c.466G>A (p.Val156Ile)

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