ClinVar Miner

List of variants in gene DOCK6 reported as pathogenic for not provided

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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_020812.4(DOCK6):c.5939+2T>C rs201387914 0.00019
NM_020812.4(DOCK6):c.3190_3191del (p.Leu1064fs) rs747575528 0.00010
NM_020812.4(DOCK6):c.4491+1G>A rs772543889 0.00004
NM_020812.4(DOCK6):c.387C>G (p.Tyr129Ter) rs752015120 0.00003
NM_020812.4(DOCK6):c.5100C>G (p.Tyr1700Ter) rs768245540 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.1462C>T (p.Arg488Ter) rs369389970 0.00001
NM_020812.4(DOCK6):c.3562C>T (p.Gln1188Ter) rs372751467 0.00001
NC_000019.9:g.(?_11319342)_(11328087_?)del
NC_000019.9:g.(?_11373053)_(11373116_?)del
NM_020812.4(DOCK6):c.1054dup (p.Ser352fs)
NM_020812.4(DOCK6):c.1282_1285dup (p.Arg429fs)
NM_020812.4(DOCK6):c.2219del (p.Pro740fs) rs760412099
NM_020812.4(DOCK6):c.2372dup (p.Ile792fs)
NM_020812.4(DOCK6):c.2437_2440del (p.Ser813fs)
NM_020812.4(DOCK6):c.2883dup (p.Gly962fs)
NM_020812.4(DOCK6):c.3392del (p.Leu1131fs)
NM_020812.4(DOCK6):c.3745_3752del (p.Ser1249fs) rs772381647
NM_020812.4(DOCK6):c.3939dup (p.Ser1314fs)
NM_020812.4(DOCK6):c.3975del (p.Leu1326fs)
NM_020812.4(DOCK6):c.3997C>T (p.Gln1333Ter)
NM_020812.4(DOCK6):c.4058G>A (p.Trp1353Ter)
NM_020812.4(DOCK6):c.4194_4197dup (p.Val1400fs) rs1555688690
NM_020812.4(DOCK6):c.4196del (p.Ile1399fs)
NM_020812.4(DOCK6):c.4480G>T (p.Glu1494Ter) rs568049240
NM_020812.4(DOCK6):c.4751+1G>A rs867039578
NM_020812.4(DOCK6):c.4977del (p.Ile1660fs)
NM_020812.4(DOCK6):c.49del (p.Val17fs)
NM_020812.4(DOCK6):c.5231G>A (p.Trp1744Ter)
NM_020812.4(DOCK6):c.5494dup (p.Tyr1832fs)
NM_020812.4(DOCK6):c.550C>T (p.Arg184Ter)
NM_020812.4(DOCK6):c.5663_5673dup (p.Cys1892fs)
NM_020812.4(DOCK6):c.5783_5790del (p.Lys1928fs) rs1232184969
NM_020812.4(DOCK6):c.5997C>A (p.Tyr1999Ter)
NM_020812.4(DOCK6):c.616_617del (p.Leu206fs)
NM_020812.4(DOCK6):c.616_617dup (p.Leu207fs)
NM_020812.4(DOCK6):c.667C>T (p.Arg223Ter) rs376648777
NM_020812.4(DOCK6):c.869dup (p.Lys291fs)

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