List of variants reported as likely pathogenic for combined immunodeficiency due to CRAC channel dysfunction by Invitae

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_032790.4(ORAI1):c.581T>C (p.Leu194Pro)	rs782753385	0.00004
NC_000011.9:g.(?_4045083)_(4045237_?)dup
NM_001382567.1(STIM1):c.1568-1G>T
NM_001382567.1(STIM1):c.239A>C (p.Asn80Thr)	rs748277951
NM_001382567.1(STIM1):c.262A>G (p.Ser88Gly)	rs2135736648
NM_001382567.1(STIM1):c.270+2T>C
NM_001382567.1(STIM1):c.386-1G>A	rs2133083597
NM_001382567.1(STIM1):c.792-1G>A
NM_032790.4(ORAI1):c.391G>A (p.Val131Met)
NM_032790.4(ORAI1):c.505dup (p.His169fs)
NM_032790.4(ORAI1):c.546delC (p.Ile182Metfs)	rs1594212582
NM_032790.4(ORAI1):c.613C>T (p.Gln205Ter)	rs2136853046
NM_032790.4(ORAI1):c.750dup (p.Ile251Tyrfs)	rs1265366427
NM_032790.4(ORAI1):c.802C>T (p.Arg268Ter)

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