List of variants in gene combination CEP290, LOC129390514 reported as uncertain significance for Meckel 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: 12

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HGVS	dbSNP	gnomAD frequency
NM_025114.4(CEP290):c.6320A>G (p.Lys2107Arg)	rs755933899	0.00008
NM_025114.4(CEP290):c.6335G>A (p.Arg2112Gln)	rs773459272	0.00002
NM_025114.4(CEP290):c.6346C>T (p.His2116Tyr)	rs2034573032	0.00001
NM_025114.4(CEP290):c.6353G>C (p.Arg2118Thr)	rs1208196086	0.00001
NM_025114.4(CEP290):c.6357+3A>G	rs777062671	0.00001
NM_025114.4(CEP290):c.6277G>A (p.Val2093Ile)	rs2034578914
NM_025114.4(CEP290):c.6297G>T (p.Met2099Ile)	rs753507165
NM_025114.4(CEP290):c.6299G>A (p.Cys2100Tyr)	rs1274778299
NM_025114.4(CEP290):c.6311A>C (p.Lys2104Thr)
NM_025114.4(CEP290):c.6312_6314del (p.Lys2105del)	rs749826807
NM_025114.4(CEP290):c.6347A>G (p.His2116Arg)
NM_025114.4(CEP290):c.6354A>T (p.Arg2118Ser)	rs762397066

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