List of variants reported as pathogenic for immune system disorder by Lifecell International Pvt. Ltd

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
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_000135.4(FANCA):c.3761_3762del (p.Glu1254fs)	rs868273545
NM_000206.3(IL2RG):c.294del (p.Val99fs)	rs2092261618
NM_000377.3(WAS):c.881T>C (p.Ile294Thr)	rs387906717
NM_001370466.1(NOD2):c.919C>T (p.Arg307Trp)	rs104895462
NM_002834.5(PTPN11):c.124A>G (p.Thr42Ala)	rs397507501
NM_032193.4(RNASEH2C):c.205C>T (p.Arg69Trp)	rs78635798
NM_033629.6(TREX1):c.58dup (p.Glu20fs)	rs78300695

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