ClinVar Miner

List of variants studied for DOCK2 deficiency by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 78
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HGVS dbSNP
NM_004946.2(DOCK2):c.1215C>T (p.Thr405=) rs141406325
NM_004946.2(DOCK2):c.1288C>G (p.Leu430Val) rs370264550
NM_004946.2(DOCK2):c.1349T>C (p.Met450Thr) rs759775916
NM_004946.2(DOCK2):c.1360G>A (p.Ala454Thr) rs114888195
NM_004946.2(DOCK2):c.1417A>G (p.Met473Val) rs201626676
NM_004946.2(DOCK2):c.1426T>C (p.Tyr476His) rs769211157
NM_004946.2(DOCK2):c.148A>C (p.Ile50Leu) rs200852440
NM_004946.2(DOCK2):c.1555+10A>G rs373086704
NM_004946.2(DOCK2):c.1594G>A (p.Val532Met) rs149411090
NM_004946.2(DOCK2):c.1767T>G (p.Val589=) rs34864600
NM_004946.2(DOCK2):c.1843+6C>T rs374362264
NM_004946.2(DOCK2):c.1843+9delG rs756542427
NM_004946.2(DOCK2):c.2199C>T (p.Ile733=) rs35530753
NM_004946.2(DOCK2):c.2241T>C (p.Ile747=) rs35887608
NM_004946.2(DOCK2):c.2352A>G (p.Gln784=) rs13155521
NM_004946.2(DOCK2):c.2587A>G (p.Lys863Glu) rs141501849
NM_004946.2(DOCK2):c.2638C>A (p.Leu880Met) rs112062072
NM_004946.2(DOCK2):c.2742G>C (p.Gln914His) rs761742890
NM_004946.2(DOCK2):c.279G>T (p.Thr93=) rs144632263
NM_004946.2(DOCK2):c.338G>A (p.Arg113His) rs750421267
NM_004946.2(DOCK2):c.3417G>A (p.Glu1139=) rs149853735
NM_004946.2(DOCK2):c.366C>T (p.Tyr122=) rs35393134
NM_004946.2(DOCK2):c.44-9G>A rs778542070
NM_004946.2(DOCK2):c.566A>G (p.Glu189Gly) rs1234078639
NM_004946.2(DOCK2):c.631A>G (p.Met211Val) rs151191554
NM_004946.2(DOCK2):c.752C>T (p.Thr251Met) rs78243868
NM_004946.2(DOCK2):c.753G>A (p.Thr251=) rs146746458
NM_004946.2(DOCK2):c.843+7G>A rs72841138
NM_004946.2(DOCK2):c.90G>C (p.Gln30His) rs141894939
NM_004946.3(DOCK2):c.1742C>T (p.Thr581Met)
NM_004946.3(DOCK2):c.2051T>A (p.Ile684Asn)
NM_004946.3(DOCK2):c.2175C>G (p.Ser725Arg)
NM_004946.3(DOCK2):c.2656G>A (p.Val886Ile)
NM_004946.3(DOCK2):c.2858C>T (p.Ser953Phe) rs35395501
NM_004946.3(DOCK2):c.286T>C (p.Trp96Arg)
NM_004946.3(DOCK2):c.2946G>A (p.Lys982=) rs36028557
NM_004946.3(DOCK2):c.3099A>G (p.Ala1033=) rs758385723
NM_004946.3(DOCK2):c.3140T>G (p.Phe1047Cys)
NM_004946.3(DOCK2):c.3192G>T (p.Arg1064=) rs58980222
NM_004946.3(DOCK2):c.321+1G>A
NM_004946.3(DOCK2):c.3233G>A (p.Gly1078Asp)
NM_004946.3(DOCK2):c.3337G>A (p.Asp1113Asn)
NM_004946.3(DOCK2):c.3366T>A (p.Ser1122Arg) rs200973349
NM_004946.3(DOCK2):c.3468-5C>T rs371584556
NM_004946.3(DOCK2):c.3528C>T (p.Asn1176=) rs1554127501
NM_004946.3(DOCK2):c.3683G>A (p.Arg1228His)
NM_004946.3(DOCK2):c.3738C>A (p.Leu1246=) rs771448474
NM_004946.3(DOCK2):c.3741C>T (p.His1247=) rs144649763
NM_004946.3(DOCK2):c.3828G>C (p.Leu1276=) rs6555882
NM_004946.3(DOCK2):c.3836C>T (p.Thr1279Met) rs145873210
NM_004946.3(DOCK2):c.3854T>C (p.Ile1285Thr)
NM_004946.3(DOCK2):c.3945T>C (p.Tyr1315=) rs34133853
NM_004946.3(DOCK2):c.3986A>G (p.Tyr1329Cys) rs766635884
NM_004946.3(DOCK2):c.4151A>G (p.Asn1384Ser)
NM_004946.3(DOCK2):c.4182G>A (p.Pro1394=)
NM_004946.3(DOCK2):c.4213+1G>A
NM_004946.3(DOCK2):c.4295+9C>T rs115134653
NM_004946.3(DOCK2):c.4314C>T (p.Tyr1438=) rs17647491
NM_004946.3(DOCK2):c.4361A>C (p.Asp1454Ala)
NM_004946.3(DOCK2):c.4378G>A (p.Ala1460Thr) rs1554128971
NM_004946.3(DOCK2):c.4533G>T (p.Met1511Ile) rs148502872
NM_004946.3(DOCK2):c.4729-4C>T rs115841644
NM_004946.3(DOCK2):c.4955A>G (p.Asn1652Ser) rs113216049
NM_004946.3(DOCK2):c.4976G>C (p.Ser1659Thr) rs139644615
NM_004946.3(DOCK2):c.5039A>G (p.Gln1680Arg) rs373168304
NM_004946.3(DOCK2):c.5083C>G (p.Leu1695Val)
NM_004946.3(DOCK2):c.5129C>T (p.Ala1710Val)
NM_004946.3(DOCK2):c.5154G>A (p.Ser1718=) rs147230385
NM_004946.3(DOCK2):c.5165G>A (p.Arg1722Gln)
NM_004946.3(DOCK2):c.5221_5226del (p.Ile1741_Pro1742del)
NM_004946.3(DOCK2):c.5259T>C (p.Phe1753=) rs138826774
NM_004946.3(DOCK2):c.5295G>A (p.Ala1765=) rs370911923
NM_004946.3(DOCK2):c.5335A>G (p.Thr1779Ala)
NM_004946.3(DOCK2):c.5344C>T (p.Arg1782Cys) rs149343589
NM_004946.3(DOCK2):c.5425A>G (p.Thr1809Ala) rs146886839
NM_004946.3(DOCK2):c.5445G>A (p.Ser1815=) rs200128185
NM_004946.3(DOCK2):c.5446G>T (p.Ala1816Ser) rs144315682
NM_004946.3(DOCK2):c.5475G>A (p.Ser1825=) rs114098294

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