ClinVar Miner

List of variants in gene RAG1 reported by GeneDx

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Gene type:
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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_000448.3(RAG1):c.746= (p.His249=) rs3740955 0.51789
NM_000448.3(RAG1):c.2459A>G (p.Lys820Arg) rs2227973 0.12928
NM_000448.3(RAG1):c.2880A>G (p.Ala960=) rs1980131 0.07643
NM_000448.3(RAG1):c.906C>A (p.Asp302Glu) rs4151030 0.02153
NM_000448.3(RAG1):c.303G>A (p.Ala101=) rs4151025 0.01561
NM_000448.3(RAG1):c.189A>G (p.Pro63=) rs34357808 0.01436
NM_000448.3(RAG1):c.2638G>A (p.Glu880Lys) rs4151033 0.01395
NM_000448.3(RAG1):c.1346G>A (p.Arg449Lys) rs4151031 0.01070
NM_000448.3(RAG1):c.251A>G (p.His84Arg) rs150199231 0.00550
NM_000448.3(RAG1):c.2751G>A (p.Gln917=) rs150721661 0.00334
NM_000448.3(RAG1):c.2571C>T (p.Ala857=) rs141560248 0.00227
NM_000448.3(RAG1):c.2451A>G (p.Glu817=) rs61758791 0.00167
NM_000448.3(RAG1):c.725A>G (p.Gln242Arg) rs76897604 0.00164
NM_000448.3(RAG1):c.3016A>G (p.Met1006Val) rs139113046 0.00148
NM_000448.3(RAG1):c.1566G>T (p.Trp522Cys) rs193922461 0.00009
NM_000448.3(RAG1):c.2974A>G (p.Lys992Glu) rs539590514 0.00009
NM_000448.3(RAG1):c.1A>G (p.Met1Val) rs200575481 0.00007
NM_000448.3(RAG1):c.2924G>A (p.Arg975Gln) rs150739647 0.00004
NM_000448.3(RAG1):c.1303A>G (p.Met435Val) rs141524540 0.00003
NM_000448.3(RAG1):c.335G>A (p.Arg112His) rs749223640 0.00003
NM_000448.3(RAG1):c.527G>T (p.Cys176Phe) rs149229197 0.00002
NM_000448.3(RAG1):c.737C>T (p.Ala246Val) rs1329911475 0.00002
NM_000448.3(RAG1):c.1178G>T (p.Gly393Val) rs1554944856 0.00001
NM_000448.3(RAG1):c.2291G>A (p.Arg764His) rs768809293 0.00001
NM_000448.3(RAG1):c.2333G>A (p.Arg778Gln) rs121918569 0.00001
NM_000448.3(RAG1):c.2442G>T (p.Glu814Asp) rs768860215 0.00001
NM_000448.3(RAG1):c.2689C>T (p.Arg897Ter) rs757797994 0.00001
NM_000448.3(RAG1):c.2981A>G (p.His994Arg) rs775412266 0.00001
NM_000448.3(RAG1):c.999T>A (p.Tyr333Ter) rs902350422 0.00001
NM_000448.3(RAG1):c.1048_1075delinsAAAAGAGTG (p.Val350fs) rs1590702729
NM_000448.3(RAG1):c.1180C>T (p.Arg394Trp) rs1590702874
NM_000448.3(RAG1):c.1361T>A (p.Leu454Gln) rs199474677
NM_000448.3(RAG1):c.1875T>G (p.Phe625Leu) rs749669514
NM_000448.3(RAG1):c.1988C>A (p.Ala663Glu) rs2133296713
NM_000448.3(RAG1):c.2147G>A (p.Arg716Gln) rs1064793248
NM_000448.3(RAG1):c.2564A>G (p.Asn855Ser) rs199474690
NM_000448.3(RAG1):c.2690G>A (p.Arg897Gln) rs1064793249
NM_000448.3(RAG1):c.506C>G (p.Ser169Trp) rs4151027
NM_000448.3(RAG1):c.746dup (p.His249fs) rs886041745
NM_000448.3(RAG1):c.775del (p.Ser259fs) rs878853031
NM_000448.3(RAG1):c.967del (p.Val323fs) rs1590702629

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