ClinVar Miner

List of variants in gene CHD7 reported as benign by Genetic Services Laboratory, University of Chicago

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Gene type:
ClinVar version:
Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_017780.4(CHD7):c.6103+8C>T rs3763592 0.14641
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.1018A>G (p.Met340Val) rs41305525 0.00505
NM_017780.4(CHD7):c.6478G>A (p.Ala2160Thr) rs61753399 0.00482
NM_017780.4(CHD7):c.2230G>A (p.Gly744Ser) rs141947938 0.00470
NM_017780.4(CHD7):c.6282A>G (p.Gly2094=) rs41312172 0.00354
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.216T>C (p.Tyr72=) rs16926453 0.00217
NM_017780.4(CHD7):c.5754T>C (p.Thr1918=) rs61746542 0.00167
NM_017780.4(CHD7):c.712G>A (p.Val238Met) rs200898742 0.00153
NM_017780.4(CHD7):c.2831G>A (p.Arg944His) rs117506164 0.00030
NM_017780.4(CHD7):c.6353A>G (p.Asn2118Ser) rs199614124 0.00026
NM_017780.4(CHD7):c.8661G>A (p.Pro2887=) rs148517660 0.00009
NM_017780.4(CHD7):c.3126C>T (p.Asn1042=) rs568551629 0.00006
NM_017780.4(CHD7):c.7848G>A (p.Leu2616=) rs188188906 0.00004
NM_017780.4(CHD7):c.350G>A (p.Gly117Asp) rs372110761 0.00001
NM_017780.4(CHD7):c.2377-3dup rs752271550
NM_017780.4(CHD7):c.5051-4C>A rs71640288
NM_017780.4(CHD7):c.6843T>G (p.Asp2281Glu) rs587783453

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