ClinVar Miner

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

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 27
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HGVS dbSNP
NM_017780.4(CHD7):c.1397C>T (p.Ser466Leu) rs71640285
NM_017780.4(CHD7):c.1644G>A (p.Pro548=) rs748842029
NM_017780.4(CHD7):c.2067G>A (p.Thr689=) rs34979623
NM_017780.4(CHD7):c.2185A>G (p.Lys729Glu) rs41272437
NM_017780.4(CHD7):c.2436A>T (p.Lys812Asn) rs61978638
NM_017780.4(CHD7):c.277A>G (p.Thr93Ala) rs398124317
NM_017780.4(CHD7):c.2835+8T>C rs202141372
NM_017780.4(CHD7):c.360C>T (p.Gly120=) rs375438732
NM_017780.4(CHD7):c.4851T>C (p.Gly1617=) rs181927766
NM_017780.4(CHD7):c.5115G>A (p.Pro1705=) rs191081055
NM_017780.4(CHD7):c.5496G>A (p.Glu1832=) rs766542090
NM_017780.4(CHD7):c.5848G>A (p.Ala1950Thr) rs201423234
NM_017780.4(CHD7):c.5973A>G (p.Gln1991=) rs768313777
NM_017780.4(CHD7):c.6216C>G (p.Pro2072=) rs199828744
NM_017780.4(CHD7):c.6250A>G (p.Ser2084Gly) rs201083157
NM_017780.4(CHD7):c.6513C>T (p.Ala2171=) rs376020564
NM_017780.4(CHD7):c.6711C>T (p.Ser2237=) rs370385319
NM_017780.4(CHD7):c.6822T>C (p.Ala2274=) rs61743849
NM_017780.4(CHD7):c.7503C>G (p.Ser2501=)
NM_017780.4(CHD7):c.7595C>T (p.Thr2532Met) rs201032343
NM_017780.4(CHD7):c.7848G>A (p.Leu2616=) rs188188906
NM_017780.4(CHD7):c.8366C>T (p.Ala2789Val) rs376934539
NM_017780.4(CHD7):c.8446T>C (p.Leu2816=) rs375204972
NM_017780.4(CHD7):c.8580C>T (p.Ser2860=) rs767368987
NM_017780.4(CHD7):c.8594C>T (p.Ser2865Leu) rs147534616
NM_017780.4(CHD7):c.8672A>G (p.Asn2891Ser) rs202039728
NM_017780.4(CHD7):c.911T>C (p.Ile304Thr) rs537091457

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