ClinVar Miner

List of variants in gene DOCK8 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 86
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HGVS dbSNP gnomAD frequency
NM_203447.4(DOCK8):c.3573C>T (p.Ser1191=) rs13285348 0.00471
NM_203447.4(DOCK8):c.1017G>A (p.Pro339=) rs35746964 0.00395
NM_203447.4(DOCK8):c.1587C>G (p.Pro529=) rs146289269 0.00296
NM_203447.4(DOCK8):c.4019A>G (p.Tyr1340Cys) rs116920018 0.00276
NM_203447.4(DOCK8):c.6201A>G (p.Glu2067=) rs145573166 0.00221
NM_203447.4(DOCK8):c.2310G>A (p.Glu770=) rs116175117 0.00217
NM_203447.4(DOCK8):c.380G>A (p.Arg127His) rs150742426 0.00196
NM_203447.4(DOCK8):c.4158C>T (p.Asn1386=) rs77803650 0.00195
NM_203447.4(DOCK8):c.3606T>C (p.Cys1202=) rs143919622 0.00175
NM_203447.4(DOCK8):c.663C>A (p.Asp221Glu) rs139391329 0.00173
NM_203447.4(DOCK8):c.3460C>T (p.Arg1154Cys) rs34390308 0.00170
NM_203447.4(DOCK8):c.452G>A (p.Arg151Gln) rs149918318 0.00136
NM_203447.4(DOCK8):c.5010G>A (p.Ala1670=) rs142208336 0.00128
NM_203447.4(DOCK8):c.5962-16_5962-8del rs767478064 0.00078
NM_203447.4(DOCK8):c.541C>G (p.His181Asp) rs200684000 0.00070
NM_203447.4(DOCK8):c.494C>T (p.Ser165Leu) rs146490788 0.00061
NM_203447.4(DOCK8):c.5962-8C>T rs749575443 0.00061
NM_203447.4(DOCK8):c.3058A>G (p.Ile1020Val) rs151094543 0.00046
NM_203447.4(DOCK8):c.2749G>A (p.Glu917Lys) rs200899164 0.00030
NM_203447.4(DOCK8):c.828-7A>G rs200243583 0.00030
NM_203447.4(DOCK8):c.3519C>T (p.Ala1173=) rs144299704 0.00027
NM_203447.4(DOCK8):c.5828C>T (p.Thr1943Ile) rs148368084 0.00025
NM_203447.4(DOCK8):c.2275G>A (p.Val759Met) rs148693111 0.00021
NM_203447.4(DOCK8):c.3220C>A (p.His1074Asn) rs150298985 0.00019
NM_203447.4(DOCK8):c.1623C>G (p.His541Gln) rs200201944 0.00015
NM_203447.4(DOCK8):c.4998G>C (p.Val1666=) rs370901183 0.00013
NM_203447.4(DOCK8):c.4704G>A (p.Glu1568=) rs201433235 0.00011
NM_203447.4(DOCK8):c.1097C>T (p.Thr366Met) rs367543787 0.00009
NM_203447.4(DOCK8):c.1824T>A (p.Pro608=) rs749361649 0.00009
NM_203447.4(DOCK8):c.6064A>G (p.Met2022Val) rs143458628 0.00008
NM_203447.4(DOCK8):c.2296G>A (p.Glu766Lys) rs267602235 0.00006
NM_203447.4(DOCK8):c.2779A>G (p.Ile927Val) rs759239515 0.00006
NM_203447.4(DOCK8):c.5901G>T (p.Pro1967=) rs763449692 0.00006
NM_203447.4(DOCK8):c.3323A>G (p.Asn1108Ser) rs151210108 0.00005
NM_203447.4(DOCK8):c.3734C>T (p.Ser1245Leu) rs373318465 0.00004
NM_203447.4(DOCK8):c.1656A>G (p.Val552=) rs150595667 0.00003
NM_203447.4(DOCK8):c.538C>T (p.Arg180Cys) rs141961156 0.00003
NM_203447.4(DOCK8):c.5962-18_5962-8del rs751313136 0.00003
NM_203447.4(DOCK8):c.2971-6C>T rs773500215 0.00002
NM_203447.4(DOCK8):c.3757G>A (p.Gly1253Ser) rs1395205685 0.00002
NM_203447.4(DOCK8):c.1433G>A (p.Arg478His) rs757667271 0.00001
NM_203447.4(DOCK8):c.148C>T (p.Leu50Phe) rs1045835531 0.00001
NM_203447.4(DOCK8):c.3044G>A (p.Arg1015His) rs200494857 0.00001
NM_203447.4(DOCK8):c.3633C>T (p.Ile1211=) rs372601035 0.00001
NM_203447.4(DOCK8):c.3735G>A (p.Ser1245=) rs753731620 0.00001
NM_203447.4(DOCK8):c.3787A>G (p.Ile1263Val) rs370490613 0.00001
NM_203447.4(DOCK8):c.470C>T (p.Thr157Met) rs575314722 0.00001
NM_203447.4(DOCK8):c.4791G>A (p.Glu1597=) rs762934294 0.00001
NM_203447.4(DOCK8):c.4895A>G (p.Lys1632Arg) rs760713559 0.00001
NM_203447.4(DOCK8):c.5127C>T (p.Thr1709=) rs372590839 0.00001
NM_203447.4(DOCK8):c.5491-4C>T rs780798376 0.00001
NM_203447.4(DOCK8):c.5985G>A (p.Val1995=) rs1356573433 0.00001
NM_203447.4(DOCK8):c.870C>G (p.Leu290=) rs201244929 0.00001
NM_203447.4(DOCK8):c.919C>G (p.Leu307Val) rs560133135 0.00001
GRCh37/hg19 9p24.3(chr9:266045-434797)x1
GRCh37/hg19 9p24.3(chr9:328022-464219)x3
NM_203447.4(DOCK8):c.1090C>T (p.Pro364Ser) rs146777948
NM_203447.4(DOCK8):c.1126-790G>A
NM_203447.4(DOCK8):c.1422G>A (p.Gln474=) rs1563936093
NM_203447.4(DOCK8):c.1461T>C (p.Phe487=)
NM_203447.4(DOCK8):c.1516G>A (p.Gly506Ser)
NM_203447.4(DOCK8):c.157-5579C>G
NM_203447.4(DOCK8):c.1637A>G (p.Glu546Gly) rs2051518779
NM_203447.4(DOCK8):c.1798-4A>G rs774596616
NM_203447.4(DOCK8):c.2017A>T (p.Ile673Phe) rs372858877
NM_203447.4(DOCK8):c.2265C>T (p.Phe755=)
NM_203447.4(DOCK8):c.2727G>A (p.Ala909=)
NM_203447.4(DOCK8):c.2784C>T (p.Ala928=) rs375198959
NM_203447.4(DOCK8):c.2916C>A (p.Thr972=) rs2297075
NM_203447.4(DOCK8):c.2992G>T (p.Val998Leu) rs751201571
NM_203447.4(DOCK8):c.3306C>T (p.Ser1102=)
NM_203447.4(DOCK8):c.3339del (p.Phe1113fs) rs748134881
NM_203447.4(DOCK8):c.3747A>G (p.Gln1249=)
NM_203447.4(DOCK8):c.4201G>T (p.Glu1401Ter)
NM_203447.4(DOCK8):c.4339-3C>G rs954072908
NM_203447.4(DOCK8):c.4387_4395del (p.Arg1463_Leu1465del) rs1554704402
NM_203447.4(DOCK8):c.4409A>G (p.Asn1470Ser)
NM_203447.4(DOCK8):c.4504G>C (p.Glu1502Gln)
NM_203447.4(DOCK8):c.4661C>T (p.Ser1554Phe)
NM_203447.4(DOCK8):c.5199G>A (p.Glu1733=) rs1587052532
NM_203447.4(DOCK8):c.53+20G>A rs755676032
NM_203447.4(DOCK8):c.5505A>G (p.Gln1835=)
NM_203447.4(DOCK8):c.5653G>A (p.Glu1885Lys) rs1564078658
NM_203447.4(DOCK8):c.5858AGA[2] (p.Lys1955del) rs1587092842
NM_203447.4(DOCK8):c.5864A>C (p.Lys1955Thr) rs2131866624
NM_203447.4(DOCK8):c.6187C>T (p.Arg2063Trp) rs754936136

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