List of variants reported as pathogenic for Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_000022.4(ADA):c.986C>T (p.Ala329Val)	rs121908715	0.00021
NM_000536.4(RAG2):c.475C>T (p.Arg159Cys)	rs764485070	0.00004
NM_000448.3(RAG1):c.2095C>T (p.Arg699Trp)	rs199474676	0.00002
NM_000448.3(RAG1):c.2210G>A (p.Arg737His)	rs104894286	0.00002
NM_000448.3(RAG1):c.1331C>T (p.Ala444Val)	rs199474685	0.00001
NM_000448.2(RAG1):c.[1229G>A;1863delG]
NM_000448.2(RAG1):c.[1681C>T;1815G>C]
NM_000448.3(RAG1):c.1460T>G (p.Met487Arg)	rs1850812562
NM_000448.3(RAG1):c.1528G>T (p.Glu510Ter)	rs759401797
NM_000448.3(RAG1):c.1677G>T (p.Arg559Ser)	rs199474681
NM_000448.3(RAG1):c.555del (p.Lys186fs)	rs786205615
NM_000448.3(RAG1):c.987del (p.Ser330fs)	rs1564988767
NM_000536.3(RAG2):c.[1403_1406delATCT;1A>G]
NM_000536.4(RAG2):c.104G>C (p.Gly35Ala)	rs148508754
NM_000536.4(RAG2):c.686G>C (p.Arg229Pro)	rs121917894
NM_000536.4(RAG2):c.829dup (p.Tyr277fs)	rs1851074524

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