List of variants in gene combination LOC130000337, PRKDC reported as uncertain significance for Severe combined immunodeficiency due to DNA-PKcs 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: 3

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HGVS	dbSNP	gnomAD frequency
NM_006904.7(PRKDC):c.140G>T (p.Ser47Ile)	rs1328149805
NM_006904.7(PRKDC):c.152T>C (p.Leu51Pro)	rs1468283360
NM_006904.7(PRKDC):c.153G>A (p.Leu51=)	rs2551882708

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