List of variants reported as pathogenic for immune system disorder by Zotz-Klimas Genetics Lab, MVZ Zotz Klimas

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala)	rs28940579	0.00147
NM_000243.3(MEFV):c.2080A>G (p.Met694Val)	rs61752717	0.00012
NM_000051.4(ATM):c.8549T>A (p.Leu2850Ter)	rs876658716	0.00001
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys)	rs121918459	0.00001
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp)	rs28933386	0.00001
NM_000243.3(MEFV):c.2040G>C (p.Met680Ile)	rs28940580
NM_001243133.2(NLRP3):c.778_780delinsTGG (p.Arg260Trp)	rs2103107063
NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg)	rs121918466

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