ClinVar Miner

List of variants in gene COQ8B reported as pathogenic for abdominal and pelvic region disorder

Included ClinVar conditions (913):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP
NM_001142555.3(COQ8B):c.831_833dup (p.Thr278dup) rs1057519346
NM_024876.4(COQ8B):c.101G>A (p.Trp34Ter) rs1057519345
NM_024876.4(COQ8B):c.1027C>T (p.Arg343Trp) rs398122981
NM_024876.4(COQ8B):c.1199dup (p.His400fs) rs398122982
NM_024876.4(COQ8B):c.1356_1362del (p.Gln452fs) rs398122983
NM_024876.4(COQ8B):c.1430G>A (p.Arg477Gln) rs1057519347
NM_024876.4(COQ8B):c.1447G>T (p.Glu483Ter) rs398122980
NM_024876.4(COQ8B):c.532C>T (p.Arg178Trp) rs398122978
NM_024876.4(COQ8B):c.645del (p.Phe215fs) rs764587648
NM_024876.4(COQ8B):c.857A>G (p.Asp286Gly) rs398122979
NM_024876.4(COQ8B):c.958C>T (p.Arg320Trp) rs369573693

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