ClinVar Miner

List of variants reported as uncertain significance for Severe combined immunodeficiency due to DNA-PKcs deficiency by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_006904.7(PRKDC):c.5120T>A (p.Leu1707Gln)	rs202110076	0.00235
NM_006904.7(PRKDC):c.4435G>C (p.Val1479Leu)	rs199731143	0.00104

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