List of variants in gene ACD reported as benign for Dyskeratosis congenita, autosomal dominant 6

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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: 17

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HGVS	dbSNP	gnomAD frequency
NM_001082486.2(ACD):c.1295T>C (p.Val432Ala)	rs6979	0.59619
NM_001082486.2(ACD):c.1298+20C>A	rs67114979	0.13128
NM_001082486.2(ACD):c.413+3A>G	rs8058187	0.12302
NM_001082486.2(ACD):c.1371G>T (p.Pro457=)	rs14920	0.03535
NC_000016.10:g.67660703A>G	rs72547496	0.02931
NM_001082486.2(ACD):c.923G>A (p.Gly308Glu)	rs147189192	0.00679
NM_001082486.2(ACD):c.801C>T (p.Ala267=)	rs72549181	0.00530
NM_001082486.1(ACD):c.162C>T (p.Pro54=)	rs73597595	0.00508
NM_001082486.2(ACD):c.1207-10C>T	rs67185288	0.00501
NM_001082486.2(ACD):c.494-20C>T	rs59443695	0.00465
NM_001082486.2(ACD):c.819C>T (p.Pro273=)	rs138740815	0.00237
NM_001082486.2(ACD):c.1336C>T (p.Leu446=)	rs1050346	0.00169
NM_001082486.2(ACD):c.80G>A (p.Arg27Gln)	rs142507451	0.00135
NM_001082486.2(ACD):c.132C>T (p.Gly44=)	rs138527794	0.00102
NM_001082486.2(ACD):c.444C>T (p.Leu148=)	rs151132164	0.00096
NM_001082486.2(ACD):c.99+18G>A	rs369046068	0.00036
NM_001082486.2(ACD):c.743-3dup	rs1369632476

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