ClinVar Miner

List of variants reported as benign for Severe combined immunodeficiency disease

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_001033855.3(DCLRE1C):c.643C>T (p.Leu215=) rs7076862 0.42876
NM_000215.4(JAK3):c.3096+18A>G rs2302603 0.36048
NM_001033855.3(DCLRE1C):c.512C>G (p.Pro171Arg) rs35441642 0.09351
NM_000022.4(ADA):c.390G>A (p.Val130=) rs61737144 0.04145
NM_000215.4(JAK3):c.1787-11dup rs397839895 0.02943
NM_000448.3(RAG1):c.906C>A (p.Asp302Glu) rs4151030 0.02153
NM_000215.4(JAK3):c.2259C>T (p.Ala753=) rs35458530 0.01034
NM_000215.4(JAK3):c.2625C>T (p.Leu875=) rs2230589 0.00942
NC_000019.10:g.17824778_17824779del rs10580414
NC_000019.10:g.17824778_17824779insCA rs10672762
NM_000073.3(CD3G):c.-62GCTG[4] rs60810919
NM_000215.4(JAK3):c.*222CT[1] rs3212801
NM_000215.4(JAK3):c.308+16del rs3212717

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