ClinVar Miner

List of variants in gene DOCK6 studied for Adams-Oliver syndrome 2

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Total variants: 65
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HGVS dbSNP gnomAD frequency
NM_020812.4(DOCK6):c.3876A>G (p.Leu1292=) rs4804151 0.65403
NM_020812.4(DOCK6):c.3858T>C (p.Asp1286=) rs4804152 0.63966
NM_020812.4(DOCK6):c.377+12T>A rs8113582 0.59788
NM_020812.4(DOCK6):c.4050T>C (p.Asn1350=) rs2304155 0.55134
NM_020812.4(DOCK6):c.749C>T (p.Pro250Leu) rs12978266 0.53878
NM_020812.4(DOCK6):c.4044G>A (p.Pro1348=) rs2304154 0.50722
NM_020812.4(DOCK6):c.4959C>T (p.Asn1653=) rs8409 0.49265
NM_020812.4(DOCK6):c.5361+4C>T rs3745682 0.36094
NM_020812.4(DOCK6):c.3894+19G>A rs4804150 0.35804
NM_020812.4(DOCK6):c.3507A>T (p.Leu1169=) rs3810307 0.29532
NM_020812.4(DOCK6):c.4895C>T (p.Ala1632Val) rs117328686 0.02223
NM_020812.4(DOCK6):c.2956-5C>T rs3810309 0.01873
NM_020812.4(DOCK6):c.3913C>T (p.Arg1305Cys) rs112911897 0.00801
NM_020812.4(DOCK6):c.885C>T (p.Asn295=) rs146599144 0.00449
NM_020812.4(DOCK6):c.1833-19C>G rs188183013 0.00332
NM_020812.4(DOCK6):c.4344G>A (p.Pro1448=) rs200307398 0.00331
NM_020812.4(DOCK6):c.1289G>A (p.Arg430His) rs143655255 0.00330
NM_020812.4(DOCK6):c.2104G>A (p.Gly702Ser) rs199838752 0.00102
NM_020812.4(DOCK6):c.5216A>T (p.His1739Leu) rs200792145 0.00042
NM_020812.4(DOCK6):c.3052C>T (p.Arg1018Trp) rs200261463 0.00029
NM_020812.4(DOCK6):c.2629C>T (p.Arg877Cys) rs199553475 0.00019
NM_020812.4(DOCK6):c.5939+2T>C rs201387914 0.00019
NM_020812.4(DOCK6):c.4469G>A (p.Arg1490Gln) rs200472954 0.00016
NM_020812.4(DOCK6):c.6128G>A (p.Arg2043Gln) rs746117967 0.00016
NM_020812.4(DOCK6):c.4216T>G (p.Ser1406Ala) rs34479977 0.00014
NM_020812.4(DOCK6):c.2506G>A (p.Val836Ile) rs200935357 0.00011
NM_020812.4(DOCK6):c.2767G>A (p.Val923Ile) rs143194982 0.00011
NM_020812.4(DOCK6):c.3190_3191del (p.Leu1064fs) rs747575528 0.00010
NM_020812.4(DOCK6):c.4198G>A (p.Val1400Met) rs201255040 0.00006
NM_020812.4(DOCK6):c.6097C>T (p.Leu2033Phe) rs556988328 0.00006
NM_020812.4(DOCK6):c.4368G>A (p.Thr1456=) rs376704333 0.00005
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.6014G>A (p.Arg2005His) rs768594454 0.00003
NM_020812.4(DOCK6):c.4012C>T (p.Arg1338Ter) rs775397068 0.00002
NM_020812.4(DOCK6):c.449C>T (p.Pro150Leu) rs781180338 0.00002
NM_020812.4(DOCK6):c.1245dup (p.Asp416Ter) rs1226716539 0.00001
NM_020812.4(DOCK6):c.281C>T (p.Thr94Ile) rs747666106 0.00001
NM_020812.4(DOCK6):c.4106+1G>A rs1192375765 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.100C>G (p.His34Asp) rs201065561
NM_020812.4(DOCK6):c.1300del (p.Gln434fs) rs2147852182
NM_020812.4(DOCK6):c.1362_1365del (p.Thr455fs) rs730882238
NM_020812.4(DOCK6):c.1396C>T (p.Arg466Ter) rs1198436520
NM_020812.4(DOCK6):c.2505C>T (p.Tyr835=) rs200378092
NM_020812.4(DOCK6):c.2520dup (p.Arg841fs) rs397509398
NM_020812.4(DOCK6):c.292G>A (p.Gly98Arg)
NM_020812.4(DOCK6):c.3125T>A (p.Met1042Lys)
NM_020812.4(DOCK6):c.3154G>A (p.Glu1052Lys) rs774877657
NM_020812.4(DOCK6):c.3180del (p.Cys1061fs)
NM_020812.4(DOCK6):c.3616A>G (p.Ile1206Val)
NM_020812.4(DOCK6):c.4107-1G>C rs397509399
NM_020812.4(DOCK6):c.4339-8G>A
NM_020812.4(DOCK6):c.4824_4828del (p.Glu1609fs) rs1555826472
NM_020812.4(DOCK6):c.521G>A (p.Arg174His)
NM_020812.4(DOCK6):c.5272G>A (p.Gly1758Ser)
NM_020812.4(DOCK6):c.5345T>C (p.Ile1782Thr) rs866624292
NM_020812.4(DOCK6):c.550C>T (p.Arg184Ter)
NM_020812.4(DOCK6):c.5615G>C (p.Arg1872Pro)
NM_020812.4(DOCK6):c.5616dup (p.Lys1873Ter)
NM_020812.4(DOCK6):c.5783_5790del (p.Lys1928fs) rs1232184969
NM_020812.4(DOCK6):c.705C>G (p.Tyr235Ter) rs1555697020
NM_020812.4(DOCK6):c.788T>A (p.Val263Asp) rs879255610
NM_020812.4(DOCK6):c.804C>T (p.Leu268=)

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