List of variants reported as pathogenic for combined immunodeficiency due to ORAI1 deficiency

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NC_000012.12:g.121641318T>C	rs782753385	0.00004
NC_000012.11:g.(?_122064648)_(122064976_?)del
NC_000012.11:g.(?_122064648)_(122287716_?)del
NC_000012.12:g.121641056G>A	rs2136852410
NM_032790.4(ORAI1):c.141_142insCCGCCGCCGCAGCGGGGACGGGGAGCCCCCGGGGGCC (p.Ser48Profs)	rs1555322558
NM_032790.4(ORAI1):c.208_209del (p.Ser70fs)
NM_032790.4(ORAI1):c.261dup (p.Ala88Serfs)	rs878853261
NM_032790.4(ORAI1):c.271C>T (p.Arg91Trp)	rs118203993
NM_032790.4(ORAI1):c.308C>A (p.Ala103Glu)	rs786205890

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