List of variants reported as uncertain significance for immune system disorder by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

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Total variants: 22

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HGVS	dbSNP	gnomAD frequency
NM_000543.5(SMPD1):c.1550A>T (p.Glu517Val)	rs142787001	0.00284
NM_000543.5(SMPD1):c.441G>A (p.Val147=)	rs148944108	0.00241
NM_000543.5(SMPD1):c.1589G>C (p.Gly530Ala)	rs35122256	0.00150
NM_000543.5(SMPD1):c.1474G>A (p.Gly492Ser)	rs144873307	0.00111
NM_000543.5(SMPD1):c.689G>A (p.Arg230His)	rs141387770	0.00071
NM_000543.5(SMPD1):c.340G>A (p.Val114Met)	rs142215226	0.00061
NM_000543.5(SMPD1):c.604C>T (p.Arg202Cys)	rs749595299	0.00001
NM_000543.5(SMPD1):c.742G>A (p.Glu248Lys)	rs200763423	0.00001
NM_014140.4(SMARCAL1):c.2290C>T (p.Arg764Trp)	rs1480919035	0.00001
NM_000051.4(ATM):c.9103C>T (p.Leu3035Phe)	rs866769874
NM_000081.4(LYST):c.2465C>T (p.Thr822Ile)
NM_000081.4(LYST):c.6454A>C (p.Ser2152Arg)
NM_000271.5(NPC1):c.1610T>C (p.Phe537Ser)	rs747310316
NM_000271.5(NPC1):c.3293C>T (p.Thr1098Ile)	rs746285672
NM_000543.5(SMPD1):c.592G>C (p.Ala198Pro)	rs797044798
NM_000543.5(SMPD1):c.872G>A (p.Arg291His)	rs1803161
NM_000543.5(SMPD1):c.995C>G (p.Pro332Arg)	rs202081954
NM_001012339.3(DNAJC21):c.463T>C (p.Trp155Arg)	rs1580526653
NM_002295.6(RPSA):c.491A>T (p.Asn164Ile)
NM_005045.4(RELN):c.5615-102A>G
NM_018389.5(SLC35C1):c.842G>A (p.Gly281Asp)	rs1265362913
NM_181552.4(CUX1):c.3820A>G (p.Ile1274Val)

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