List of variants reported as likely pathogenic for severe combined immunodeficiency due to CARMIL2 deficiency

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Total variants: 10

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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.1115T>G (p.Leu372Arg)	rs1567628757
NM_001013838.3(CARMIL2):c.1334+1G>T	rs780608299
NM_001013838.3(CARMIL2):c.149G>C (p.Arg50Thr)	rs1567626023
NM_001013838.3(CARMIL2):c.1528C>T (p.Gln510Ter)
NM_001013838.3(CARMIL2):c.1590C>A (p.Asn530Lys)	rs1567629968
NM_001013838.3(CARMIL2):c.1753_1754del (p.Gln585fs)
NM_001013838.3(CARMIL2):c.2313+1G>A	rs765817045
NM_001013838.3(CARMIL2):c.958+1G>C	rs1567628294

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