List of variants studied for immune system disorder by Clinical Genetics Laboratory, University Hospital Schleswig-Holstein

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_144687.4(NLRP12):c.1854C>G (p.Tyr618Ter)	rs142487599	0.00013
NM_020435.4(GJC2):c.1199C>A (p.Ala400Glu)	rs761261049	0.00005
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln)	rs376607329	0.00003
NM_006432.5(NPC2):c.358C>T (p.Pro120Ser)	rs104894458	0.00001
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser)	rs61732874
NM_002834.5(PTPN11):c.1507G>A (p.Gly503Arg)	rs397507545
NM_002880.4(RAF1):c.1353G>C (p.Gln451His)
NM_005633.4(SOS1):c.844T>C (p.Cys282Arg)	rs1671004485
NM_006767.4(LZTR1):c.163C>T (p.Arg55Trp)
NM_022552.5(DNMT3A):c.2645G>A (p.Arg882His)	rs147001633

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