ClinVar Miner

List of variants in gene PRKDC reported as likely benign for T-B- severe combined immunodeficiency

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 28
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HGVS dbSNP
NM_006904.6(PRKDC):c.11754C>T (p.Leu3918=) rs774251901
NM_006904.6(PRKDC):c.11814C>T (p.Ile3938=) rs750761283
NM_006904.6(PRKDC):c.12216T>A (p.Pro4072=) rs570143368
NM_006904.6(PRKDC):c.129C>T (p.Val43=) rs373856605
NM_006904.6(PRKDC):c.1389G>A (p.Lys463=) rs772883495
NM_006904.6(PRKDC):c.1818A>G (p.Ser606=) rs368804788
NM_006904.6(PRKDC):c.1896G>A (p.Glu632=) rs774814292
NM_006904.6(PRKDC):c.2220C>T (p.Ile740=) rs191477681
NM_006904.6(PRKDC):c.422C>G (p.Ser141Cys) rs201231274
NM_006904.6(PRKDC):c.4435G>C (p.Val1479Leu) rs199731143
NM_006904.6(PRKDC):c.4594C>T (p.Leu1532Phe) rs56387546
NM_006904.6(PRKDC):c.4936C>T (p.Leu1646=) rs1554638426
NM_006904.6(PRKDC):c.4962+8A>G rs767290425
NM_006904.6(PRKDC):c.5120T>A (p.Leu1707Gln) rs202110076
NM_006904.6(PRKDC):c.5253A>G (p.Glu1751=) rs8178120
NM_006904.6(PRKDC):c.5466C>T (p.Arg1822=) rs1418857770
NM_006904.6(PRKDC):c.5750+7T>C rs1231868709
NM_006904.6(PRKDC):c.5760C>T (p.Tyr1920=) rs188014107
NM_006904.6(PRKDC):c.6342A>G (p.Glu2114=) rs201300612
NM_006904.6(PRKDC):c.6348T>C (p.Asp2116=) rs200510022
NM_006904.6(PRKDC):c.7405T>C (p.Cys2469Arg) rs147514951
NM_006904.6(PRKDC):c.7647G>A (p.Lys2549=) rs4425755
NM_006904.6(PRKDC):c.7761+10T>C rs1481895843
NM_006904.6(PRKDC):c.8004C>T (p.Val2668=) rs140123272
NM_006904.6(PRKDC):c.8229T>C (p.Tyr2743=) rs562024708
NM_006904.6(PRKDC):c.871G>A (p.Val291Met) rs372117480
NM_006904.6(PRKDC):c.9693C>A (p.Ile3231=) rs759916434
NM_006904.6(PRKDC):c.9810C>T (p.Asp3270=) rs1361121924

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