List of variants studied for immune system disorder by Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_199242.3(UNC13D):c.118-308C>T	rs959968589	0.00021
NM_001558.4(IL10RA):c.537G>A (p.Thr179=)	rs1419560997	0.00001
NM_199242.3(UNC13D):c.1055+1G>A	rs754205110	0.00001
NM_000061.3(BTK):c.1780G>A (p.Gly594Arg)	rs1555977339
NM_000061.3(BTK):c.763C>T (p.Arg255Ter)	rs128621193
NM_000061.3(BTK):c.842G>A (p.Trp281Ter)	rs2147431031
NM_000206.3(IL2RG):c.340G>A (p.Gly114Ser)
NM_000206.3(IL2RG):c.681del (p.Phe227fs)
NM_001083116.3(PRF1):c.65del (p.Pro22fs)
NM_001127208.3(TET2):c.2188del (p.Thr730fs)
NM_002351.5(SH2D1A):c.1A>G (p.Met1Val)
NM_002524.5(NRAS):c.38G>A (p.Gly13Asp)	rs121434596
NM_004985.5(KRAS):c.37G>T (p.Gly13Cys)	rs121913535
NM_032638.5(GATA2):c.1018_1036delinsAATTT (p.Ser340fs)
NM_032638.5(GATA2):c.750del (p.Ser251fs)
NM_139276.3(STAT3):c.1144C>T (p.Arg382Trp)	rs113994135
NM_139276.3(STAT3):c.2144C>T (p.Pro715Leu)	rs1064794957

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