List of variants in gene MKS1 reported as benign for Joubert syndrome; Meckel-Gruber syndrome

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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: 16

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HGVS	dbSNP	gnomAD frequency
NM_017777.4(MKS1):c.858+9A>G	rs3826300	0.53797
NM_017777.4(MKS1):c.1671G>C (p.Leu557=)	rs11548967	0.06374
NM_017777.4(MKS1):c.1273+11G>A	rs16942826	0.01224
NM_017777.4(MKS1):c.1436G>A (p.Arg479His)	rs111315726	0.00476
NM_017777.4(MKS1):c.213C>G (p.Asp71Glu)	rs142813109	0.00303
NM_017777.4(MKS1):c.1388G>A (p.Arg463Gln)	rs201619500	0.00174
NM_017777.4(MKS1):c.261+7C>T	rs200156751	0.00117
NM_017777.4(MKS1):c.749+13A>G	rs199550514	0.00068
NM_017777.4(MKS1):c.1024+13C>G	rs374632643	0.00061
NM_017777.4(MKS1):c.1014G>A (p.Leu338=)	rs201998680	0.00060
NM_017777.4(MKS1):c.1498A>G (p.Met500Val)	rs144635826	0.00054
NM_017777.4(MKS1):c.515+12C>T	rs372527189	0.00036
NM_017777.4(MKS1):c.1096-5del	rs2143753890
NM_017777.4(MKS1):c.1588+10del	rs758677316
NM_017777.4(MKS1):c.645-13del	rs2509442868
NM_017777.4(MKS1):c.915+19_915+21del	rs3217067

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