ClinVar Miner

List of variants reported as uncertain significance for Severe combined immunodeficiency disease

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_000733.4(CD3E):c.*98_*101dup rs193922618 0.00450
NM_000448.3(RAG1):c.*834dup rs745747958 0.00063
NM_000536.4(RAG2):c.14T>A (p.Met5Lys) rs143415103 0.00019
NM_000732.6(CD3D):c.450+6C>T rs193922617 0.00013
NM_000448.3(RAG1):c.1A>G (p.Met1Val) rs200575481 0.00007
NM_000215.4(JAK3):c.190C>T (p.Leu64=) rs886054280 0.00001
NM_000733.4(CD3E):c.70+4del rs193922619 0.00001
GRCh37/hg19 5q22.1(chr5:110567597-110693274)
NM_000215.4(JAK3):c.*1353dup rs886054269
NM_000215.4(JAK3):c.*1931del rs147498283
NM_000215.4(JAK3):c.*340dup rs886054276
NM_000215.4(JAK3):c.*841_*842dup rs34803277
NM_000448.3(RAG1):c.*3122del rs141384582
NM_000448.3(RAG1):c.*386del rs886048258
NM_000448.3(RAG1):c.*856C>A rs886048261
NM_000536.4(RAG2):c.*72T>C rs886048269
NM_000732.6(CD3D):c.-37G>T rs886047738
NM_000733.4(CD3E):c.567+65_567+66del rs386134229
NM_001017915.3(INPP5D):c.1437+2T>C
NM_001079.4(ZAP70):c.-81T>G rs200416837
NM_001391963.1(VDAC2):c.587A>G (p.Asn196Ser)
NM_002185.5(IL7R):c.*266dup rs202167692
NM_002185.5(IL7R):c.83-18A>G rs193922646
NM_032590.5(KDM2B):c.3305G>C (p.Trp1102Ser)

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