List of variants in gene MPEG1 reported as uncertain significance for Immunodeficiency 77

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_001039396.2(MPEG1):c.1213C>A (p.Pro405Thr)	rs200420254	0.00220
NM_001039396.2(MPEG1):c.1574C>T (p.Ala525Val)	rs199736754	0.00003
NM_001039396.2(MPEG1):c.1865T>C (p.Ile622Thr)	rs1279095839	0.00001
NM_001039396.2(MPEG1):c.445C>T (p.Arg149Ter)	rs199971720	0.00001
NM_001039396.2(MPEG1):c.746A>G (p.Asn249Ser)	rs1565225643	0.00001
NM_001039396.2(MPEG1):c.1078T>A (p.Phe360Ile)	rs2496452042
NM_001039396.2(MPEG1):c.1248C>G (p.Tyr416Ter)
NM_001039396.2(MPEG1):c.1295_1296del (p.His432fs)	rs2496451319
NM_001039396.2(MPEG1):c.623G>A (p.Ser208Asn)	rs2496453209

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