ClinVar Miner

List of variants reported as likely benign for Histiocytic medullary reticulosis by Illumina Laboratory Services, Illumina

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_000448.2(RAG1):c.*3331A>G rs2673017 0.02522
NM_000448.3(RAG1):c.189A>G (p.Pro63=) rs34357808 0.01436
NM_001033855.3(DCLRE1C):c.1893C>T (p.Pro631=) rs41300676 0.00441
NM_000448.3(RAG1):c.2659G>A (p.Asp887Asn) rs4151034 0.00364
NM_000448.3(RAG1):c.2751G>A (p.Gln917=) rs150721661 0.00334
NM_000536.4(RAG2):c.*227T>C rs113343318 0.00331
NM_000448.3(RAG1):c.*3156A>G rs183729240 0.00313
NM_000536.4(RAG2):c.22G>A (p.Val8Ile) rs150762709 0.00313
NM_001033855.3(DCLRE1C):c.2001A>G (p.Leu667=) rs61749163 0.00231
NM_000536.4(RAG2):c.1095T>C (p.Ser365=) rs140519815 0.00139
NM_000536.4(RAG2):c.*52T>A rs546979744 0.00076
NM_000448.3(RAG1):c.-15+12A>G rs190968516 0.00061
NM_000448.3(RAG1):c.*1307C>T rs572674156 0.00042
NM_001033855.3(DCLRE1C):c.*12G>A rs369509998 0.00019
NM_001033855.3(DCLRE1C):c.1545A>G (p.Gly515=) rs41300672 0.00017
NM_000448.3(RAG1):c.2955T>C (p.Tyr985=) rs139084848 0.00014
NM_001033855.3(DCLRE1C):c.537+14G>A rs546891508 0.00001
NM_000448.3(RAG1):c.*2705dup rs4151048
NM_000448.3(RAG1):c.*2936TAAG[1] rs199555129
NM_001033855.3(DCLRE1C):c.*719dup rs41300680
NM_001033855.3(DCLRE1C):c.*878C>T rs575242970

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