List of variants in gene MKS1 reported by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_017777.4(MKS1):c.*322G>T	rs185405908	0.00571
NM_017777.4(MKS1):c.1436G>A (p.Arg479His)	rs111315726	0.00476
NM_017777.4(MKS1):c.*38del	rs34304018	0.00322
NM_017777.4(MKS1):c.213C>G (p.Asp71Glu)	rs142813109	0.00303
NM_017777.4(MKS1):c.1388G>A (p.Arg463Gln)	rs201619500	0.00235
NM_017777.4(MKS1):c.1498A>G (p.Met500Val)	rs144635826	0.00054
NM_017777.4(MKS1):c.*134C>T	rs34224064	0.00041
NM_017777.4(MKS1):c.644+8G>T	rs370117125	0.00022
NM_017777.4(MKS1):c.351G>A (p.Ser117=)	rs370781583	0.00016
NM_017777.4(MKS1):c.1134A>G (p.Glu378=)	rs77365082	0.00007
NM_017777.4(MKS1):c.1014G>A (p.Leu338=)	rs201998680	0.00004
NM_017777.4(MKS1):c.322C>T (p.Arg108Cys)	rs201476674	0.00003
NM_017777.4(MKS1):c.371G>A (p.Arg124Gln)	rs765026950	0.00001
NM_017777.4(MKS1):c.1408-34_1408-6del	rs386834043
NM_017777.4(MKS1):c.1671G>A (p.Leu557=)	rs11548967
NM_017777.4(MKS1):c.567G>A (p.Glu189=)
NM_017777.4(MKS1):c.915+4A>T

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