ClinVar Miner

List of variants in gene DOCK8, LOC130001437 studied for immune system disorder

Included ClinVar conditions (908):
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Gene type:
ClinVar version:
Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_203447.4(DOCK8):c.15G>A (p.Pro5=) rs148276394 0.00188
NM_203447.4(DOCK8):c.52A>G (p.Arg18Gly) rs200689054 0.00103
NM_203447.4(DOCK8):c.8C>G (p.Thr3Ser) rs199739266 0.00060
NM_203447.4(DOCK8):c.40C>T (p.Leu14Phe) rs1273096402 0.00004
NM_203447.4(DOCK8):c.6C>T (p.Ala2=) rs759932577 0.00003
NM_203447.4(DOCK8):c.4G>A (p.Ala2Thr) rs995474571 0.00002
NM_203447.4(DOCK8):c.12G>T (p.Leu4=) rs753215803 0.00001
NM_203447.4(DOCK8):c.24G>C (p.Glu8Asp) rs780984101 0.00001
NM_203447.4(DOCK8):c.34T>G (p.Phe12Val) rs886063779 0.00001
NM_203447.4(DOCK8):c.37G>C (p.Ala13Pro) rs749272308 0.00001
NM_203447.4(DOCK8):c.53G>A (p.Arg18Lys) rs1197388365 0.00001
NC_000009.11:g.(?_214957)_(215049_?)dup
NC_000009.12:g.(?_214957)_(215049_?)del
NM_203447.4(DOCK8):c.10C>T (p.Leu4=) rs1237906578
NM_203447.4(DOCK8):c.14C>G (p.Pro5Arg)
NM_203447.4(DOCK8):c.17G>T (p.Ser6Ile) rs756971694
NM_203447.4(DOCK8):c.18C>T (p.Ser6=)
NM_203447.4(DOCK8):c.22G>A (p.Glu8Lys) rs1188948475
NM_203447.4(DOCK8):c.27C>G (p.Arg9=) rs1465766530
NM_203447.4(DOCK8):c.27_28del (p.Ala11fs) rs1312725371
NM_203447.4(DOCK8):c.33G>A (p.Ala11=)
NM_203447.4(DOCK8):c.36C>A (p.Phe12Leu) rs566738926
NM_203447.4(DOCK8):c.36C>G (p.Phe12Leu) rs566738926
NM_203447.4(DOCK8):c.39G>A (p.Ala13=)
NM_203447.4(DOCK8):c.43A>C (p.Lys15Gln)
NM_203447.4(DOCK8):c.48C>T (p.Ile16=)
NM_203447.4(DOCK8):c.49A>G (p.Asn17Asp)
NM_203447.4(DOCK8):c.49A>T (p.Asn17Tyr) rs776889811
NM_203447.4(DOCK8):c.50A>G (p.Asn17Ser)

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