ClinVar Miner

List of variants in gene AKAP9 reported as uncertain significance by Biesecker Lab/Clinical Genomics Section, National Institutes of Health

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Gene type:
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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_005751.5(AKAP9):c.11714T>C (p.Met3905Thr) rs77447750 0.00014
NM_005751.5(AKAP9):c.5543C>G (p.Ser1848Cys) rs189083857 0.00004
NM_005751.5(AKAP9):c.1685A>G (p.His562Arg) rs145033147 0.00003
NM_005751.5(AKAP9):c.9577A>G (p.Arg3193Gly) rs199762211 0.00003
NM_005751.5(AKAP9):c.9830T>C (p.Ile3277Thr) rs144021475 0.00003
NM_005751.5(AKAP9):c.10523G>A (p.Cys3508Tyr) rs750007670 0.00001
NM_005751.5(AKAP9):c.389C>G (p.Pro130Arg) rs200518712 0.00001
NM_005751.5(AKAP9):c.3950T>C (p.Ile1317Thr) rs199773513 0.00001
NM_005751.5(AKAP9):c.4156G>T (p.Val1386Phe) rs762293635 0.00001
NM_005751.5(AKAP9):c.5636T>C (p.Met1879Thr) rs776979647 0.00001
NM_005751.5(AKAP9):c.1742C>A (p.Ser581Tyr) rs786205260
NM_005751.5(AKAP9):c.5234T>C (p.Val1745Ala) rs201632145
NM_005751.5(AKAP9):c.5534A>G (p.Asn1845Ser) rs786205261
NM_005751.5(AKAP9):c.5827G>T (p.Asp1943Tyr) rs201144675
NM_005751.5(AKAP9):c.7773A>C (p.Gln2591His) rs553800160
NM_005751.5(AKAP9):c.7921AAG[1] (p.Lys2642del) rs786205262
NM_005751.5(AKAP9):c.8894A>G (p.Tyr2965Cys) rs201958512

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