ClinVar Miner

List of variants reported as pathogenic for Adams-Oliver syndrome 2 by OMIM

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_020812.4(DOCK6):c.5939+2T>C rs201387914 0.00019
NM_020812.4(DOCK6):c.1245dup (p.Asp416Ter) rs1226716539 0.00001
NM_020812.4(DOCK6):c.1362_1365del (p.Thr455fs) rs730882238
NM_020812.4(DOCK6):c.2520dup (p.Arg841fs) rs397509398
NM_020812.4(DOCK6):c.3154G>A (p.Glu1052Lys) rs774877657
NM_020812.4(DOCK6):c.4107-1G>C rs397509399
NM_020812.4(DOCK6):c.788T>A (p.Val263Asp) rs879255610

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