List of variants reported as likely pathogenic for immune system disorder by Hadassah Hebrew University Medical Center

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_000051.4(ATM):c.7241_7244del (p.Gln2414fs)	rs1591151678
NM_000081.4(LYST):c.9333C>A (p.Tyr3111Ter)
NM_001098426.2(SMARCD2):c.568-1G>C	rs112986541
NM_001142864.4(PIEZO1):c.4373_4387delinsCGGCAGCAGG (p.Val1458fs)	rs1904297127
NM_001364905.1(LRBA):c.7836_7840del (p.Ser2613fs)	rs1580974401
NM_001364905.1(LRBA):c.8142_8145dup (p.Asn2716fs)	rs1264504989
NM_005251.3(FOXC2):c.347G>A (p.Trp116Ter)	rs1974216738
NM_005356.5(LCK):c.1129dup (p.Ser377fs)	rs1569967422
NM_014140.4(SMARCAL1):c.369_370del (p.Pro124fs)	rs1574443257
NM_014639.4(SKIC3):c.4070del (p.Pro1357fs)	rs1582849807
NM_020661.4(AICDA):c.274C>T (p.Arg92Ter)	rs1227905250
NM_020964.3(EPG5):c.4387_4388del (p.Val1463fs)	rs1599536432
NM_052905.4(FMNL2):c.407T>C (p.Leu136Pro)	rs1695370663
NM_152564.5(VPS13B):c.4819C>T (p.Gln1607Ter)	rs1588491546
NM_199242.3(UNC13D):c.498del (p.Glu167fs)	rs1599414759

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