List of variants in gene COG6 reported as benign for autosomal recessive disease

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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: 20

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HGVS	dbSNP	gnomAD frequency
NM_020751.3(COG6):c.297+47C>T	rs7330016	0.65748
NM_020751.3(COG6):c.94T>A (p.Cys32Ser)	rs3812883	0.43470
NM_020751.3(COG6):c.1009+9A>G	rs4129745	0.28442
NM_020751.3(COG6):c.1074+18T>C	rs9548882	0.20795
NM_020751.3(COG6):c.1340T>C (p.Met447Thr)	rs41286961	0.05379
NM_020751.3(COG6):c.898C>T (p.His300Tyr)	rs34555836	0.01351
NM_020751.3(COG6):c.1963C>A (p.Leu655Ile)	rs114044193	0.00750
NM_020751.3(COG6):c.153+19G>A	rs45508796	0.00460
NM_020751.3(COG6):c.1180A>G (p.Asn394Asp)	rs34623774	0.00327
NM_020751.3(COG6):c.1693-7_1693-6del	rs1491507046	0.00273
NM_020751.3(COG6):c.729C>T (p.Asp243=)	rs117688574	0.00218
NM_020751.3(COG6):c.1308T>G (p.Leu436=)	rs61754105	0.00118
NM_020751.3(COG6):c.1827-4A>G	rs375878630	0.00021
NM_020751.3(COG6):c.1693-8_1693-6del	rs375280565	0.00012
NM_020751.3(COG6):c.939T>C (p.Ala313=)	rs550755756	0.00004
NM_020751.3(COG6):c.69G>A (p.Gly23=)	rs372786424	0.00003
NM_020751.3(COG6):c.1693-4del	rs66629036
NM_020751.3(COG6):c.28G>A (p.Ala10Thr)	rs3812882
NM_020751.3(COG6):c.624-3dup	rs397756552
NM_020751.3(COG6):c.855C>T (p.Leu285=)	rs544831978

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