ClinVar Miner

List of variants in gene DOCK6 reported as likely pathogenic for congenital limb malformation

Included ClinVar conditions (335):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_020812.4(DOCK6):c.4469G>A (p.Arg1490Gln) rs200472954 0.00016
NM_020812.4(DOCK6):c.1987C>T (p.Gln663Ter) rs936266747 0.00004
NM_020812.4(DOCK6):c.387C>G (p.Tyr129Ter) rs752015120 0.00003
NM_020812.4(DOCK6):c.4012C>T (p.Arg1338Ter) rs775397068 0.00002
NM_020812.4(DOCK6):c.4576C>T (p.Arg1526Ter) rs374530179 0.00002
NM_020812.4(DOCK6):c.3562C>T (p.Gln1188Ter) rs372751467 0.00001
NM_020812.4(DOCK6):c.4203+2T>C rs1169546944 0.00001
NC_000019.9:g.(11315008_11319361)_(11326604_11327589)del
NM_020812.4(DOCK6):c.1362_1365del (p.Thr455fs) rs730882238
NM_020812.4(DOCK6):c.3180del (p.Cys1061fs)

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