List of variants in gene MKS1 reported as uncertain significance for Joubert syndrome 28

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_017777.4(MKS1):c.1349T>C (p.Ile450Thr)	rs200865108	0.00157
NM_017777.4(MKS1):c.1208C>T (p.Ser403Leu)	rs773684291	0.00001
NM_017777.4(MKS1):c.1465C>T (p.Arg489Cys)	rs1003579700	0.00001
NM_017777.4(MKS1):c.728C>T (p.Thr243Met)	rs749668169	0.00001
NM_017777.4(MKS1):c.763G>C (p.Gly255Arg)	rs201237547
NM_017777.4(MKS1):c.858+1G>A	rs756102768
NM_017777.4(MKS1):c.959-5C>A	rs765242131

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