ClinVar Miner

List of variants in gene CHD7 reported as benign for CHARGE association

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Gene type:
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Total variants: 70
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HGVS dbSNP
NM_017780.4(CHD7):c.*127del rs11322994
NM_017780.4(CHD7):c.1018A>G (p.Met340Val) rs41305525
NM_017780.4(CHD7):c.1029C>T (p.Ser343=) rs570815501
NM_017780.4(CHD7):c.1179A>G (p.Pro393=) rs111238892
NM_017780.4(CHD7):c.1188G>T (p.Met396Ile) rs201653177
NM_017780.4(CHD7):c.1203A>G (p.Ala401=) rs147960212
NM_017780.4(CHD7):c.1419G>C (p.Gly473=) rs186394299
NM_017780.4(CHD7):c.1536A>G (p.Pro512=) rs148577619
NM_017780.4(CHD7):c.1565G>T (p.Gly522Val) rs142962579
NM_017780.4(CHD7):c.2012C>T (p.Pro671Leu) rs370588681
NM_017780.4(CHD7):c.2053_2058dup (p.Ala685_Lys686dup) rs377139749
NM_017780.4(CHD7):c.2067G>A (p.Thr689=) rs34979623
NM_017780.4(CHD7):c.2124T>C (p.Ser708=) rs79302359
NM_017780.4(CHD7):c.216T>C (p.Tyr72=) rs16926453
NM_017780.4(CHD7):c.2230G>A (p.Gly744Ser) rs141947938
NM_017780.4(CHD7):c.2436A>T (p.Lys812Asn) rs61978638
NM_017780.4(CHD7):c.2680A>G (p.Thr894Ala) rs377662366
NM_017780.4(CHD7):c.2829G>A (p.Glu943=) rs374877439
NM_017780.4(CHD7):c.2831G>A (p.Arg944His) rs117506164
NM_017780.4(CHD7):c.3054T>G (p.Pro1018=) rs201320784
NM_017780.4(CHD7):c.307T>A (p.Ser103Thr) rs41272435
NM_017780.4(CHD7):c.309G>A (p.Ser103=) rs115293759
NM_017780.4(CHD7):c.3202-5T>C rs147994149
NM_017780.4(CHD7):c.3222C>T (p.Ser1074=) rs199675568
NM_017780.4(CHD7):c.360C>T (p.Gly120=) rs375438732
NM_017780.4(CHD7):c.3697G>A (p.Gly1233Ser) rs190548814
NM_017780.4(CHD7):c.4437G>A (p.Gly1479=) rs41265246
NM_017780.4(CHD7):c.444G>A (p.Arg148=) rs376455384
NM_017780.4(CHD7):c.4851T>C (p.Gly1617=) rs181927766
NM_017780.4(CHD7):c.5051-4C>T rs71640288
NM_017780.4(CHD7):c.5300+8C>T rs151322460
NM_017780.4(CHD7):c.5307C>T (p.Ala1769=) rs16926499
NM_017780.4(CHD7):c.5689G>A (p.Glu1897Lys) rs766110936
NM_017780.4(CHD7):c.5697C>G (p.Gly1899=) rs528130317
NM_017780.4(CHD7):c.5745G>A (p.Arg1915=) rs376993840
NM_017780.4(CHD7):c.5754T>C (p.Thr1918=) rs61746542
NM_017780.4(CHD7):c.5757C>G (p.Ala1919=) rs79203206
NM_017780.4(CHD7):c.6103+6T>C rs371509438
NM_017780.4(CHD7):c.6103+8C>T rs3763592
NM_017780.4(CHD7):c.6111C>T (p.Pro2037=) rs41312170
NM_017780.4(CHD7):c.6135G>A (p.Pro2045=) rs6999971
NM_017780.4(CHD7):c.6216C>G (p.Pro2072=) rs199828744
NM_017780.4(CHD7):c.6276G>A (p.Glu2092=) rs2068096
NM_017780.4(CHD7):c.6282A>G (p.Gly2094=) rs41312172
NM_017780.4(CHD7):c.6468C>T (p.Val2156=) rs777858802
NM_017780.4(CHD7):c.6478G>A (p.Ala2160Thr) rs61753399
NM_017780.4(CHD7):c.657C>T (p.Gly219=) rs113483301
NM_017780.4(CHD7):c.6660T>G (p.Gly2220=) rs34527521
NM_017780.4(CHD7):c.6738G>A (p.Glu2246=) rs61729627
NM_017780.4(CHD7):c.6822T>C (p.Ala2274=) rs61743849
NM_017780.4(CHD7):c.6924G>A (p.Ser2308=) rs61733338
NM_017780.4(CHD7):c.694C>A (p.Pro232Thr) rs554647169
NM_017780.4(CHD7):c.712G>A (p.Val238Met) rs200898742
NM_017780.4(CHD7):c.7165-5A>G rs376076407
NM_017780.4(CHD7):c.7209G>A (p.Arg2403=) rs61746518
NM_017780.4(CHD7):c.7278G>A (p.Gln2426=) rs187311127
NM_017780.4(CHD7):c.7313A>C (p.Gln2438Pro) rs754894988
NM_017780.4(CHD7):c.7356A>G (p.Thr2452=) rs2272727
NM_017780.4(CHD7):c.7551A>G (p.Lys2517=) rs202020722
NM_017780.4(CHD7):c.7579A>C (p.Met2527Leu) rs192129249
NM_017780.4(CHD7):c.7590A>G (p.Lys2530=) rs61742801
NM_017780.4(CHD7):c.7848G>A (p.Leu2616=) rs188188906
NM_017780.4(CHD7):c.8047C>T (p.Pro2683Ser) rs201319489
NM_017780.4(CHD7):c.8250T>G (p.Phe2750Leu) rs3750308
NM_017780.4(CHD7):c.8439C>T (p.Gly2813=) rs201132710
NM_017780.4(CHD7):c.8477A>G (p.Asn2826Ser) rs370129047
NM_017780.4(CHD7):c.856A>G (p.Arg286Gly) rs61995713
NM_017780.4(CHD7):c.8790C>T (p.Ala2930=) rs61736186
NM_017780.4(CHD7):c.8950C>T (p.Leu2984Phe) rs184814820
NM_017780.4(CHD7):c.90G>A (p.Pro30=) rs374464240

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