List of variants in gene MALT1 reported as pathogenic for Combined immunodeficiency due to MALT1 deficiency

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: 17

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HGVS	dbSNP	gnomAD frequency
NM_006785.4(MALT1):c.571C>T (p.Arg191Ter)	rs1266114717	0.00001
NM_006785.4(MALT1):c.596_599dup (p.Phe200fs)	rs1380219597	0.00001
NC_000018.10:g.(?_58671624)_(58747862_?)del
NC_000018.9:g.(?_56338876)_(56339104_?)del
NM_006785.4(MALT1):c.1318_1321del (p.Leu440fs)	rs1568151207
NM_006785.4(MALT1):c.1321del (p.Cys441fs)	rs2055182636
NM_006785.4(MALT1):c.1356del (p.Glu453fs)	rs2144461109
NM_006785.4(MALT1):c.1504C>T (p.Gln502Ter)
NM_006785.4(MALT1):c.1551_1554del (p.Arg518fs)
NM_006785.4(MALT1):c.1661_1662insTTTTTTTTTTTTTTTTTNNNNNNNNNNGGCAGGGAGGTTGCAGTGAGCCGAGATGGCAGCAGTACAGTCCAGCTTCGGCTCCGCATGAGAGGGAGACCGTGGGGAGAGGGAGACAGAGCTCGAAGTAGTTT (p.Leu554delinsPhePhePhePhePhePheXaaXaaXaaXaaAlaGlyArgLeuGlnTer)	rs2144484668
NM_006785.4(MALT1):c.1739G>C (p.Trp580Ser)	rs587777337
NM_006785.4(MALT1):c.266G>T (p.Ser89Ile)	rs398123058
NM_006785.4(MALT1):c.305_306del (p.Thr102fs)
NM_006785.4(MALT1):c.594del (p.Phe198fs)
NM_006785.4(MALT1):c.611dup (p.Gln205fs)	rs1602300615
NM_006785.4(MALT1):c.818del (p.Lys273fs)	rs2144387739
NM_006785.4(MALT1):c.926_929delGAAG

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