List of variants reported as uncertain significance for immune system disorder by Department of Human Genetics, Hannover Medical School

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln)	rs3743930	0.02112
NM_001558.4(IL10RA):c.884C>T (p.Pro295Leu)	rs56143179	0.00083
NM_001364905.1(LRBA):c.1931C>T (p.Pro644Leu)	rs371718439	0.00007
NM_181523.3(PIK3R1):c.347C>T (p.Pro116Leu)	rs774531250	0.00004
NM_144687.4(NLRP12):c.1109G>A (p.Arg370Lys)	rs764966959	0.00003
NM_001375808.2(LPIN2):c.1347C>T (p.Ser449=)	rs773074044	0.00002
NM_000051.4(ATM):c.986G>A (p.Arg329Lys)	rs776938735
NM_000243.3(MEFV):c.1652A>G (p.Gln551Arg)
NM_001364905.1(LRBA):c.7085A>G (p.Asn2362Ser)
NM_001572.5(IRF7):c.1198T>C (p.Cys400Arg)
NM_001972.4(ELANE):c.287G>C (p.Arg96Pro)
NM_002872.5(RAC2):c.35+3A>G
NM_012452.3(TNFRSF13B):c.446-3C>A
NM_144687.4(NLRP12):c.1884G>T (p.Gln628His)
NM_144687.4(NLRP12):c.1893C>A (p.Ser631Arg)	rs2122657897

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