List of variants reported as pathogenic for immune system disorder by Intergen, Intergen Genetics and Rare Diseases Diagnosis Center

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_000431.4(MVK):c.1129G>A (p.Val377Ile)	rs28934897	0.00156
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala)	rs28940579	0.00147
NM_000243.3(MEFV):c.1958G>A (p.Arg653His)	rs104895085	0.00007
NM_000536.4(RAG2):c.217C>T (p.Arg73Cys)	rs193922574	0.00003
NM_001083116.3(PRF1):c.1122G>A (p.Trp374Ter)	rs104894176	0.00003
NM_002435.3(MPI):c.1193T>C (p.Ile398Thr)	rs369326210	0.00003
NM_000243.3(MEFV):c.2040G>C (p.Met680Ile)	rs28940580
NM_000587.4(C7):c.1561C>A (p.Arg521Ser)	rs121964920
NM_001972.4(ELANE):c.597+1G>A	rs1555710005

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