List of variants in gene combination LOC129929030, PRKDC reported as likely benign for Severe combined immunodeficiency due to DNA-PKcs deficiency

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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: 17

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HGVS	dbSNP	gnomAD frequency
NM_006904.7(PRKDC):c.42G>A (p.Arg14=)	rs564283387	0.00033
NM_006904.7(PRKDC):c.100C>T (p.Leu34=)	rs768449225	0.00002
NM_006904.7(PRKDC):c.111C>T (p.Gly37=)	rs1326008128	0.00001
NM_006904.7(PRKDC):c.34C>T (p.Leu12=)	rs1215593528	0.00001
NM_006904.7(PRKDC):c.87G>A (p.Leu29=)	rs1185890705	0.00001
NM_006904.7(PRKDC):c.108C>T (p.Arg36=)	rs2154504869
NM_006904.7(PRKDC):c.12C>T (p.Ser4=)	rs2090788872
NM_006904.7(PRKDC):c.18C>A (p.Ala6=)	rs887173974
NM_006904.7(PRKDC):c.21T>G (p.Gly7=)	rs1365742632
NM_006904.7(PRKDC):c.24G>A (p.Val8=)	rs1157258902
NM_006904.7(PRKDC):c.33C>T (p.Ser11=)	rs1489986697
NM_006904.7(PRKDC):c.54C>T (p.Thr18=)
NM_006904.7(PRKDC):c.57G>A (p.Leu19=)	rs1224820621
NM_006904.7(PRKDC):c.60C>G (p.Ser20=)
NM_006904.7(PRKDC):c.63T>C (p.Ala21=)	rs2154504874
NM_006904.7(PRKDC):c.84C>T (p.Ala28=)	rs1589823650
NM_006904.7(PRKDC):c.90C>T (p.Ala30=)	rs2154504870

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