ClinVar Miner

List of variants reported as uncertain significance for severe combined immunodeficiency due to CARMIL2 deficiency by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (1):

Severe combined immunodeficiency due to CARMIL2 deficiency

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001013838.3(CARMIL2):c.1429G>A (p.Asp477Asn)	rs925043435	0.00003
NM_001013838.3(CARMIL2):c.226G>A (p.Ala76Thr)	rs2142908879
NM_001013838.3(CARMIL2):c.4226C>G (p.Pro1409Arg)	rs779617633

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