ClinVar Miner

Variants in gene CHD7 with conflicting interpretations "likely benign" and "benign"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 33
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HGVS dbSNP
NM_017780.4(CHD7):c.1018A>G (p.Met340Val) rs41305525
NM_017780.4(CHD7):c.1179A>G (p.Pro393=) rs111238892
NM_017780.4(CHD7):c.1419G>C (p.Gly473=) rs186394299
NM_017780.4(CHD7):c.1665+34G>A rs7836586
NM_017780.4(CHD7):c.2053_2058dup (p.Ala685_Lys686dup) rs377139749
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.2238+39G>A rs4540437
NM_017780.4(CHD7):c.2377-3dup rs752271550
NM_017780.4(CHD7):c.2614-14del rs748282026
NM_017780.4(CHD7):c.2614-45A>G rs6471902
NM_017780.4(CHD7):c.2831G>A (p.Arg944His) rs117506164
NM_017780.4(CHD7):c.2835+8T>C rs202141372
NM_017780.4(CHD7):c.309G>A (p.Ser103=) rs115293759
NM_017780.4(CHD7):c.3697G>A (p.Gly1233Ser) rs190548814
NM_017780.4(CHD7):c.4533+46A>G rs7844902
NM_017780.4(CHD7):c.4534-13T>G rs114996731
NM_017780.4(CHD7):c.5757C>G (p.Ala1919=) rs79203206
NM_017780.4(CHD7):c.6282A>G (p.Gly2094=) rs41312172
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.6822T>C (p.Ala2274=) rs61743849
NM_017780.4(CHD7):c.694C>A (p.Pro232Thr) rs554647169
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.7579A>C (p.Met2527Leu) rs192129249
NM_017780.4(CHD7):c.7590A>G (p.Lys2530=) rs61742801
NM_017780.4(CHD7):c.8047C>T (p.Pro2683Ser) rs201319489
NM_017780.4(CHD7):c.8416C>G (p.Leu2806Val) rs45521933
NM_017780.4(CHD7):c.856A>G (p.Arg286Gly) rs61995713
NM_017780.4(CHD7):c.8790C>T (p.Ala2930=) rs61736186

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