ClinVar Miner

List of variants in gene LOC129929030, PRKDC studied for immune system disorder

Included ClinVar conditions (908):
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Gene type:
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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_006904.7(PRKDC):c.42G>A (p.Arg14=) rs564283387 0.00031
NM_006904.7(PRKDC):c.20G>C (p.Gly7Ala) rs764675406 0.00003
NM_006904.7(PRKDC):c.100C>T (p.Leu34=) rs768449225 0.00002
NM_006904.7(PRKDC):c.57G>A (p.Leu19=) rs1224820621 0.00002
NM_006904.7(PRKDC):c.121G>C (p.Glu41Gln) rs2090786066 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=)
NM_006904.7(PRKDC):c.118C>G (p.Gln40Glu)
NM_006904.7(PRKDC):c.11C>T (p.Ser4Phe) rs1406641105
NM_006904.7(PRKDC):c.122A>G (p.Glu41Gly)
NM_006904.7(PRKDC):c.12C>T (p.Ser4=)
NM_006904.7(PRKDC):c.16G>A (p.Ala6Thr) rs8177999
NM_006904.7(PRKDC):c.16G>T (p.Ala6Ser) rs8177999
NM_006904.7(PRKDC):c.17C>T (p.Ala6Val) rs754453280
NM_006904.7(PRKDC):c.18C>A (p.Ala6=)
NM_006904.7(PRKDC):c.21T>G (p.Gly7=)
NM_006904.7(PRKDC):c.24G>A (p.Val8=)
NM_006904.7(PRKDC):c.33C>T (p.Ser11=)
NM_006904.7(PRKDC):c.37C>G (p.Leu13Val) rs761140462
NM_006904.7(PRKDC):c.62C>T (p.Ala21Val)
NM_006904.7(PRKDC):c.63T>C (p.Ala21=)
NM_006904.7(PRKDC):c.71G>A (p.Arg24His)
NM_006904.7(PRKDC):c.90C>T (p.Ala30=)

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