List of variants studied for immune system disorder by Breakthrough Genomics, Breakthrough Genomics

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr)	rs75184679	0.00141
NM_138387.4(G6PC3):c.765_766del (p.Ala257fs)	rs748931188	0.00003
NM_000051.4(ATM):c.2838G>T (p.Met946Ile)	rs1317505466
NM_000051.4(ATM):c.5276del (p.Pro1759fs)
NM_000186.4(CFH):c.3572C>T (p.Ser1191Leu)	rs460897
NM_000243.3(MEFV):c.2040G>A (p.Met680Ile)	rs28940580
NM_000543.5(SMPD1):c.1562T>G (p.Leu521Arg)	rs1057517826
NM_001972.4(ELANE):c.583del (p.Ala195fs)
NM_022168.4(IFIH1):c.2472A>C (p.Arg824Ser)
NM_152564.5(VPS13B):c.4819C>T (p.Gln1607Ter)	rs1588491546

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