List of variants in gene CHD7 reported as benign by Ambry Genetics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 33

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HGVS	dbSNP	gnomAD frequency
NM_017780.4(CHD7):c.6276G>A (p.Glu2092=)	rs2068096	0.12528
NM_017780.4(CHD7):c.7356A>G (p.Thr2452=)	rs2272727	0.04082
NM_017780.4(CHD7):c.6135G>A (p.Pro2045=)	rs6999971	0.03071
NM_017780.4(CHD7):c.2124T>C (p.Ser708=)	rs79302359	0.01911
NM_017780.4(CHD7):c.5307C>T (p.Ala1769=)	rs16926499	0.01905
NM_017780.4(CHD7):c.6738G>A (p.Glu2246=)	rs61729627	0.01533
NM_017780.4(CHD7):c.307T>A (p.Ser103Thr)	rs41272435	0.01358
NM_017780.4(CHD7):c.657C>T (p.Gly219=)	rs113483301	0.00881
NM_017780.4(CHD7):c.6111C>T (p.Pro2037=)	rs41312170	0.00625
NM_017780.4(CHD7):c.309G>A (p.Ser103=)	rs115293759	0.00586
NM_017780.4(CHD7):c.5051-4C>T	rs71640288	0.00577
NM_017780.4(CHD7):c.6478G>A (p.Ala2160Thr)	rs61753399	0.00482
NM_017780.4(CHD7):c.7590A>G (p.Lys2530=)	rs61742801	0.00476
NM_017780.4(CHD7):c.2230G>A (p.Gly744Ser)	rs141947938	0.00470
NM_017780.4(CHD7):c.8950C>T (p.Leu2984Phe)	rs184814820	0.00358
NM_017780.4(CHD7):c.856A>G (p.Arg286Gly)	rs61995713	0.00290
NM_017780.4(CHD7):c.3697G>A (p.Gly1233Ser)	rs190548814	0.00239
NM_017780.4(CHD7):c.1536A>G (p.Pro512=)	rs148577619	0.00218
NM_017780.4(CHD7):c.216T>C (p.Tyr72=)	rs16926453	0.00217
NM_017780.4(CHD7):c.8439C>T (p.Gly2813=)	rs201132710	0.00187
NM_017780.4(CHD7):c.8416C>G (p.Leu2806Val)	rs45521933	0.00176
NM_017780.4(CHD7):c.5754T>C (p.Thr1918=)	rs61746542	0.00167
NM_017780.4(CHD7):c.1565G>T (p.Gly522Val)	rs142962579	0.00101
NM_017780.4(CHD7):c.7165-5A>G	rs376076407	0.00078
NM_017780.4(CHD7):c.3202-5T>C	rs147994149	0.00076
NM_017780.4(CHD7):c.7313A>C (p.Gln2438Pro)	rs754894988	0.00075
NM_017780.4(CHD7):c.8047C>T (p.Pro2683Ser)	rs201319489	0.00035
NM_017780.4(CHD7):c.2680A>G (p.Thr894Ala)	rs377662366	0.00006
NM_017780.4(CHD7):c.8568C>T (p.Asp2856=)	rs539868738	0.00005
NM_017780.4(CHD7):c.409T>G (p.Ser137Ala)	rs183761594	0.00004
NM_017780.4(CHD7):c.5697C>G (p.Gly1899=)	rs528130317	0.00004
NM_017780.4(CHD7):c.694C>A (p.Pro232Thr)	rs554647169	0.00002
NM_017780.4(CHD7):c.7485G>T (p.Arg2495Ser)	rs547209998	0.00001

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