ClinVar Miner

List of variants in gene RPP38 reported by Ambry Genetics

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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_183005.5(RPP38):c.115G>A (p.Glu39Lys) rs138478042 0.00005
NM_183005.5(RPP38):c.46A>G (p.Thr16Ala) rs375521258 0.00005
NM_183005.5(RPP38):c.29G>A (p.Arg10Gln) rs372894666 0.00003
NM_183005.5(RPP38):c.230G>A (p.Arg77Lys) rs141142473 0.00002
NM_183005.5(RPP38):c.302T>C (p.Val101Ala) rs1473316194 0.00002
NM_183005.5(RPP38):c.487C>T (p.Arg163Trp) rs920011567 0.00002
NM_183005.5(RPP38):c.290C>G (p.Ala97Gly) rs2491129000 0.00001
NM_183005.5(RPP38):c.447G>T (p.Gln149His) rs750613703 0.00001
NM_183005.5(RPP38):c.450A>T (p.Leu150Phe) rs756322806 0.00001
NM_183005.5(RPP38):c.102C>A (p.Ser34Arg) rs760729358
NM_183005.5(RPP38):c.127T>G (p.Phe43Val) rs1220338812
NM_183005.5(RPP38):c.130A>G (p.Ile44Val)
NM_183005.5(RPP38):c.182A>C (p.Glu61Ala)
NM_183005.5(RPP38):c.284C>T (p.Thr95Ile)
NM_183005.5(RPP38):c.292A>C (p.Lys98Gln) rs771171027
NM_183005.5(RPP38):c.347G>C (p.Gly116Ala)
NM_183005.5(RPP38):c.349G>A (p.Val117Ile)
NM_183005.5(RPP38):c.382G>A (p.Glu128Lys) rs1845198304
NM_183005.5(RPP38):c.400G>T (p.Val134Leu) rs941342197
NM_183005.5(RPP38):c.40C>T (p.Arg14Cys)
NM_183005.5(RPP38):c.421G>A (p.Ala141Thr) rs2491130135
NM_183005.5(RPP38):c.490C>T (p.Leu164Phe)
NM_183005.5(RPP38):c.497A>G (p.Glu166Gly) rs2491130827
NM_183005.5(RPP38):c.511G>A (p.Val171Ile) rs145237477
NM_183005.5(RPP38):c.511G>T (p.Val171Phe)
NM_183005.5(RPP38):c.584C>T (p.Ala195Val)
NM_183005.5(RPP38):c.685A>G (p.Arg229Gly)
NM_183005.5(RPP38):c.68C>T (p.Thr23Met)
NM_183005.5(RPP38):c.746G>C (p.Gly249Ala) rs974038287
NM_183005.5(RPP38):c.75G>C (p.Leu25Phe) rs768845700
NM_183005.5(RPP38):c.837A>T (p.Lys279Asn) rs777326656

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