List of variants reported as likely pathogenic for immune system disorder by SIB Swiss Institute of Bioinformatics

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Total variants: 26

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HGVS	dbSNP	gnomAD frequency
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr)	rs75184679	0.00141
NM_021067.5(GINS1):c.247C>T (p.Arg83Cys)	rs137901350	0.00066
NM_000243.3(MEFV):c.2080A>G (p.Met694Val)	rs61752717	0.00012
NM_005337.5(NCKAP1L):c.1111A>G (p.Met371Val)	rs750982844	0.00003
NM_005337.5(NCKAP1L):c.1076C>T (p.Pro359Leu)	rs770633648	0.00002
NM_020964.3(EPG5):c.1007A>G (p.Gln336Arg)	rs201757275	0.00002
NM_001013838.3(CARMIL2):c.1916T>A (p.Leu639His)	rs775061512	0.00001
NM_020964.3(EPG5):c.1249C>T (p.Arg417Ter)	rs961245497	0.00001
NM_020964.3(EPG5):c.136C>T (p.Gln46Ter)	rs866435487	0.00001
NM_020964.3(EPG5):c.7333C>T (p.Arg2445Ter)	rs780889226	0.00001
NM_020964.3(EPG5):c.7447C>T (p.Arg2483Ter)	rs863225064	0.00001
NM_021067.5(GINS1):c.455G>A (p.Cys152Tyr)	rs376610445	0.00001
NM_001013838.3(CARMIL2):c.1115T>G (p.Leu372Arg)	rs1567628757
NM_001013838.3(CARMIL2):c.149G>C (p.Arg50Thr)	rs1567626023
NM_003120.3(SPI1):c.632A>C (p.His211Pro)	rs2095906547
NM_003120.3(SPI1):c.722T>G (p.Val241Gly)	rs2095906404
NM_004333.6(BRAF):c.722C>T (p.Thr241Met)	rs387906660
NM_005337.5(NCKAP1L):c.1555G>C (p.Val519Leu)	rs1956961224
NM_005337.5(NCKAP1L):c.773G>T (p.Arg258Leu)	rs1956891911
NM_020964.3(EPG5):c.4751T>A (p.Leu1584Ter)	rs1568133760
NM_020964.3(EPG5):c.4783C>T (p.Gln1595Ter)	rs1568133724
NM_020964.3(EPG5):c.5479C>G (p.Pro1827Ala)	rs1568118775
NM_020964.3(EPG5):c.5966G>A (p.Trp1989Ter)	rs1568112543
NM_020964.3(EPG5):c.5993C>G (p.Ser1998Ter)	rs1568112516
NM_020964.3(EPG5):c.6084G>A (p.Trp2028Ter)	rs1568107449
NM_032193.4(RNASEH2C):c.205C>T (p.Arg69Trp)	rs78635798

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