List of variants in gene MKS1 reported as pathogenic for Bardet-Biedl syndrome 13; Meckel syndrome, type 1; 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: 5

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HGVS	dbSNP	gnomAD frequency
NM_017777.4(MKS1):c.417G>A (p.Glu139=)	rs386834048	0.00014
NM_017777.4(MKS1):c.367C>T (p.Arg123Ter)	rs762482919	0.00002
NM_017777.4(MKS1):c.1115_1117del (p.Ser372del)	rs754279998
NM_017777.4(MKS1):c.1408-34_1408-6del	rs386834043
NM_017777.4(MKS1):c.1450_1453dup (p.Thr485fs)	rs386834044

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