List of variants reported as likely pathogenic for immune system disorder by Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_001006658.3(CR2):c.2298G>A (p.Trp766Ter)	rs151093663	0.00065
NM_000204.5(CFI):c.310G>A (p.Gly104Arg)	rs200419722	0.00006
NM_000204.5(CFI):c.1165C>T (p.Arg389Cys)	rs1292929833	0.00001
NM_014140.4(SMARCAL1):c.1384_1389dup (p.Leu462_Gly463dup)	rs1553526162	0.00001
NM_000064.4(C3):c.2061dup (p.Lys688fs)	rs1599518940
NM_000064.4(C3):c.2531A>G (p.Gln844Arg)	rs1599510478
NM_000064.4(C3):c.3908G>A (p.Arg1303His)	rs775015499
NM_000186.4(CFH):c.3542T>C (p.Leu1181Ser)	rs1573087200
NM_000186.4(CFH):c.58G>A (p.Asp20Asn)	rs1553270437
NM_000204.5(CFI):c.1118G>C (p.Cys373Ser)	rs1579173999
NM_001164277.2(SLC37A4):c.838G>C (p.Ala280Pro)	rs1555190969
NM_014140.4(SMARCAL1):c.1930C>T (p.Arg644Trp)	rs1313658611
NM_139027.6(ADAMTS13):c.1585-1G>C	rs1554789680
NM_139027.6(ADAMTS13):c.3937_4053del (p.Thr1313_Thr1351del)	rs1554797078
NM_172351.3(CD46):c.685C>T (p.Arg229Ter)	rs1553251787

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