List of variants studied for immune system disorder by Lifecell International Pvt. Ltd

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Total variants: 23

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HGVS	dbSNP	gnomAD frequency
NM_001033855.3(DCLRE1C):c.1990C>T (p.Arg664Ter)	rs200693133	0.00012
NM_000051.4(ATM):c.8494C>T (p.Arg2832Cys)	rs587779872	0.00001
NM_002524.5(NRAS):c.35G>A (p.Gly12Asp)	rs121913237	0.00001
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met)	rs121918457	0.00001
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp)	rs28933386	0.00001
NM_004629.2(FANCG):c.1761-2A>C	rs765150956	0.00001
NM_000074.3(CD40LG):c.373C>T (p.His125Tyr)	rs1603321148
NM_000074.3(CD40LG):c.770G>T (p.Gly257Val)
NM_000135.4(FANCA):c.3761_3762del (p.Glu1254fs)	rs868273545
NM_000206.3(IL2RG):c.294del (p.Val99fs)	rs2092261618
NM_000215.4(JAK3):c.3096+1G>T
NM_000234.3(LIG1):c.2444del (p.Leu815fs)
NM_000377.3(WAS):c.832G>T (p.Glu278Ter)
NM_000377.3(WAS):c.881T>C (p.Ile294Thr)	rs387906717
NM_000558.5(HBA1):c.300+1G>A	rs758093235
NM_001370466.1(NOD2):c.919C>T (p.Arg307Trp)	rs104895462
NM_001972.4(ELANE):c.212G>T (p.Cys71Phe)	rs878855315
NM_002834.5(PTPN11):c.124A>G (p.Thr42Ala)	rs397507501
NM_003839.4(TNFRSF11A):c.328dup (p.Arg110fs)
NM_022168.4(IFIH1):c.2304+1G>T	rs762865950
NM_032193.4(RNASEH2C):c.205C>T (p.Arg69Trp)	rs78635798
NM_033629.6(TREX1):c.58dup (p.Glu20fs)	rs78300695
NM_153460.4(IL17RC):c.763-2_764del	rs755012426

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