ClinVar Miner

List of variants in gene DOCK6 reported as pathogenic for Adams-Oliver syndrome

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP
DOCK6, 1-BP DUP, 1245T
NM_020812.3(DOCK6):c.1362_1365delAACT (p.Thr455Serfs) rs730882238
NM_020812.3(DOCK6):c.2520dupT (p.Arg841Serfs) rs397509398
NM_020812.3(DOCK6):c.3154G>A (p.Glu1052Lys) rs774877657
NM_020812.3(DOCK6):c.5939+2T>C rs201387914
NM_020812.3(DOCK6):c.788T>A (p.Val263Asp) rs879255610

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