List of variants in gene CARMIL2 reported as pathogenic for immune system disorder

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_001013838.3(CARMIL2):c.1916T>A (p.Leu639His)	rs775061512	0.00001
NM_001013838.3(CARMIL2):c.520C>T (p.Arg174Ter)	rs758210528	0.00001
NM_001013838.3(CARMIL2):c.871+1G>T	rs886041044	0.00001
NM_001013838.3(CARMIL2):c.1115T>G (p.Leu372Arg)	rs1567628757
NM_001013838.3(CARMIL2):c.149G>C (p.Arg50Thr)	rs1567626023
NM_001013838.3(CARMIL2):c.1574T>A (p.Leu525Gln)	rs1567629943
NM_001013838.3(CARMIL2):c.1590C>A (p.Asn530Lys)	rs1567629968
NM_001013838.3(CARMIL2):c.1784del (p.Lys595fs)	rs774594582
NM_001013838.3(CARMIL2):c.2536_2548del (p.Leu846fs)	rs1567632829
NM_001013838.3(CARMIL2):c.2557C>T (p.Gln853Ter)	rs1567632864
NM_001013838.3(CARMIL2):c.490dup (p.Ala164fs)	rs886041043

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