ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 39
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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.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.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.5962-8C>T rs749575443 0.00061
NM_203447.4(DOCK8):c.3058A>G (p.Ile1020Val) rs151094543 0.00046
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.4704G>A (p.Glu1568=) rs201433235 0.00011
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.2779A>G (p.Ile927Val) rs759239515 0.00006
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.3757G>A (p.Gly1253Ser) rs1395205685 0.00002
NM_203447.4(DOCK8):c.3735G>A (p.Ser1245=) rs753731620 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.5127C>T (p.Thr1709=) rs372590839 0.00001
NM_203447.4(DOCK8):c.5985G>A (p.Val1995=) rs1356573433 0.00001
NM_203447.4(DOCK8):c.1461T>C (p.Phe487=)
NM_203447.4(DOCK8):c.2017A>T (p.Ile673Phe) rs372858877
NM_203447.4(DOCK8):c.2727G>A (p.Ala909=)
NM_203447.4(DOCK8):c.2916C>A (p.Thr972=) rs2297075
NM_203447.4(DOCK8):c.3306C>T (p.Ser1102=)
NM_203447.4(DOCK8):c.3747A>G (p.Gln1249=)
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=)

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