ClinVar Miner

List of variants in gene CHD7 reported as benign for abdominal and pelvic region disorder

Included ClinVar conditions (956):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
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NM_017780.4(CHD7):c.*1189A>C rs4738834
NM_017780.4(CHD7):c.*127del rs11322994
NM_017780.4(CHD7):c.*1444T>G rs4237040
NM_017780.4(CHD7):c.*1728T>C rs2280917
NM_017780.4(CHD7):c.*1797C>T rs6985168
NM_017780.4(CHD7):c.1018A>G (p.Met340Val) rs41305525
NM_017780.4(CHD7):c.1565G>T (p.Gly522Val) rs142962579
NM_017780.4(CHD7):c.2053_2058dup (p.Ala685_Lys686dup) rs377139749
NM_017780.4(CHD7):c.2230G>A (p.Gly744Ser) rs141947938
NM_017780.4(CHD7):c.307T>A (p.Ser103Thr) rs41272435
NM_017780.4(CHD7):c.3202-5T>C rs147994149
NM_017780.4(CHD7):c.6103+8C>T rs3763592
NM_017780.4(CHD7):c.6276G>A (p.Glu2092=) rs2068096
NM_017780.4(CHD7):c.694C>A (p.Pro232Thr) rs554647169
NM_017780.4(CHD7):c.8950C>T (p.Leu2984Phe) rs184814820

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